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http://mastcelldisorders.wallack.us/yabb/YaBB.pl Welcome! >> Introduce Yourself/Share Your Story >> My daughter's story http://mastcelldisorders.wallack.us/yabb/YaBB.pl?num=1295831139 Message started by DeborahW, Founder on 01/23/11 at 13:05:39

Title: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:05:39 (Archived post from original forum - author kgruba) I am new to this forum and can only hope that I am setting this up in the correct category.  I also posted it under the category of Parents of Mast Cell Disorder Children in hopes of getting more activity in that category as my personaI research has led me to believe there is not enough communication and information on the sites for children.  And this site has given me "boundless" information regarding MCAD and I can only hope that my post will somehow draw other parents to this site so they can better educate themselves  and get the support of others as this site has done for me.  I have been utilizing this Forum for about a week now and have learned more from this Forum than I have in my 4 months of researching MCAD on the Internet.  I am in search of answers for my 8 year old daughter and until I found this site I was feeling really hopeless as I kept hitting brick walls.  There are MANY strong, supportive, helpful and knowledgable people here!  Words can't express the gratitude I have for the couple of people who have helped me thus far.  They are dealing with their own disease process and symptoms and yet they have taken a lot of time to respond to my emails, give me encouragement, support, advice and even went above and beyond to help me connect with the right doctors that can maybe help us get answers for my daughters symptoms.  My daughter is 8 years old and although her doctors and myself wrote off the causes of her early symptoms as "unknown" , "viral", etc. I am now putting the pieces of the puzzle together.  She has had problems from some sort of disease process since birth.  These symptoms were pretty significant from birth to a few years of age. They then seemed to "simmer" for a couple of years... only to show their ugly head full force about 2 1/2 years ago.  It has progressed significantly since then.  She now has a total of 10 doctors treating all of the different body / system areas that are involved.  Talk about frustrating!  How do they piece anything together when out medical system is so fragmented?  Although Brieann's current diagnosis is Chronic Urticaria and a very rare diagnosis of Neutrophilic Eccrine Hydradenitis (which involves ONLY the fingers and palms of her hands on 7 different occassions). We do not yet have a Unifying diagnosis that will tie ALL of her symptoms together.  I have spent hundreds upon hundreds of hours researching her symptoms and it was not until June 2010 that I stumbled across MCAD.  I about fell out of my chair as this was the first time I found a disease process that fit everything she goes through.  I later found this forum and again was amazed at reading all of the different personal stories as each time I read them I felt that they were personally describing my daughters symptoms.  I know this entry is becoming very lengthy but I wanted to get Brie's story out there in hopes that there are some parents, family or loved ones of a child that  can relate to this story and either be helped by this information, share their experience or give some advise to how I can best help my daughter.  The following is a shortened outline (although still very long) as to what my daughter has experienced: *** Since birth Brie has had abdominal distention; abrupt stomach pains; nausea; vomiting; bloating; lack of or loss of appetite; diarrhea; and intestinal cramping and she is extremely gassy. This can even awaken her from sleep. Many of her stomach aches are so severe that I consider taking her to ER to be assessed for a ruptured appendix. This had gotten to the point that for 1 1/2 years they would occur DAILY and up to 15 times a day. This cycle was not broken until after adding a steroid to her medication regime. *** Since 6 weeks of age Brie has experienced "flare and wheal" type hives. These later developed into more severe hives. She also began to develop several other types of rashes and outbreaks (Petechia that would bleed and then change into large hives and then repeat the same process over and over for 2 months; also flushed face / cheeks; Neutrophilic Eccrine Hidradenitis nodules to only the fingers and palms of the hands; different types of rashes; skin and scalp itching with nothing visibly present, etc.). Once week after being hospitalized for Metabolic Acidosis (of unknown cause) Brie began to break out with different dermatological outbreaks EVERY DAYfor 6 straight months. We were unable to break this cycle until she was started on a steroid for her GI concerns. She has been diagnosed with Chronic Urticaria. I also find it interesting that many times Brie will often experience the "Darier Sign." *** Brie has experienced chronic headaches over the last 2 1/2 years. Some of these are so severe in that she flails around on the floor screaming and crying from the pain. (but most are much less severe). *** She has bouts of "dizziness" and light headedness *** She had problems with anemia as a small child and then again over the last year. *** Brie went through a period of time with night time sweats and night time fevers which would resolve spontaneously by morning (these have been within the last 2 1/2 years but are not current) *** Brie experiences episodes of a croupy / barky cough that resolves spontaneously and yet she does not have an URI or any other infection at the time. *** She has medically documented episodes of acute hypoxia, night time hypoxia, lethargy and confusion *** She has had problems with possible sleep apnea - although she has had a T&A and x-rays are negative for any physical blockage *** Beginning in 9/09 she began complaining several times of "her heart hurting and that it feels like it is jumping out of her chest" along with tachycardia. On 10/23/09 she was diagnosed with a heart murmur that the Dr's feel is benign (she has not had a cardiac work up for this). She has medical documentation of tachycardia and night time tachycardia. *** Brie has developed over the last 2 years episodes of urinary frequency, urgency and sporadic day and night time wetting. All UA's have been negative. She has had WBC's in her urine at times and yet there are not other signs of infection. *** Brie gets white sores on her gums and this is at times accompanied by a white exudate. *** Brie has always shown some concerns regarding academic achievement. But as of the later part of the last school year and now this school year these concerns have become of great concern. *** Although I could not find any correlation between NEH and MCAD none of Brie's doctors can not explain why she has had 7 episodes of NEH that has been strictly localized to her palms and fingers. The NEH was confirmed by 2 separate biopsies and the biopsies also show Granulomatous infiltrate with histiocytes, lymphocytes and neutrophils. *** She was hospitalized with acute hypoxia and respiratory distress with no definitive diagnosis (? pneumonia although she was not ill before this very sudden acute onset) *** She was hospitalized for acute Metabolic Acidosis and dehydration (in which no cause was found) and this occurred 3 days after she was "overhydrated" per results of a UA and no changes had been made to her fluid intake. *** Although I am told that her steroid (Entocort) is 60% absorbed in the colon and "has little to no affect systemically" it has proven to significantly reduce ALL of her systemic symptoms and once again none of her doctors are able to explain this to me. *** Since birth Brie has always been of a short stature. This has always been a concern of mine due to her GI problems and anemia I have always questioned absorption problems. She is 8 years old and most 5 and 6 year olds are bigger than she is. She can wear the same clothes for 3 years in a row! *** Brie complained of pain in her feet for 1 1/2 years but most recently she complains of her bones or joints hurting anywhere in her body. *** Brie has reoccurring episodes of extreme tiredness. During these periods she can nap for 2-4 hours a day and still be tired at bedtime. She will sleep (9 - 12 hours a night) throughout the night and then awaken tired in the morning. She often even reports that she was tired or fell asleep in class. *** Brie has had Anesthesia on 2 occasions and both times appears to have reacted to this. *** In the last few months when she receives a minor scratch to her skin she develops a thick type scar. *** Brie's symptoms decrease significantly when placed on a medication regime of Antihistamines, Stomach Medicine and Steroids. Throughout Brieann's last few years of medical care I find that the following findings may be significant: Lymphoid Hyperplagia of the colon; mild chronic inflammation of the colon and stomach; Active gastritis and mild chronic gastritis; Platelets, C-Reactive Protein, Esenophils, Leukocytes and Lymphocytes have all at times been elevated; WBC's in the urine and elevated serum WBC's and yet no other signs of infection; slightly reduced red cell volume and slightly elevated red cell distribution; markedly reduced Ferritin level; increased urine osmolarity and trace urine hemoglobin; positive biopsies for NEH The following is a list of things that she has been negative for or have so far been medically ruled out: Negative ANA; IGM and IGG; H-Pylori; Chronic Strep; UTI's; Diabetes; Negative urine and blood cultures; DFA's for the flu; Celiac Disease; Systemic and Cutaneous Vasculitis; Normal Pyrufic Acid; Chrohn's Disease; Negative abdominal and Pelvic Ultrasounds; Negative Upper GI with Barium; Negative for Immune response to milk protein, casein and whey; Negative for Autoimmune Disease (per skin biopsy); Hydronephrosis; Ulcerative Colitis; Irritable Bowel Disease; allergy to milk, soy and wheat; negative labs for Mastocytosis; No evidence (per labs) of pancreatic, liver or kidney disease; Whipples Disease; Giardia; Peripheral blood smear is essentially normal with "an occasional reactive appearing lymphocyte present"                                                                               Brieaann's concerned Mom / Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:12:46 Reply from starflower You guys have really been through the wringer!!!  I'm so sorry that you had to experience this.  I have two kids... I'm certainly grateful that I'm the one dealing with MCAD and not them. I do think the different types of MCAD are definitely worth exploring.  A normal tryptase does not rule any of them out.  Send me a private message and I'll send you a new article that's coming out about mast cell activation disorders... it should be very helpful to you and your daughter's doctors. Two other things that caught my attention... the petechiae and the minor scratches that turn into major scars.  Those symptoms can occur with Ehler's-Danlos syndrome, a genetic disorder of the connective tissue (skin and collagen).  Is anyone in your family very flexible?  People can carry the genes for E-D without having any major health problems themselves.   By the way... in a normal person, the only thing the intestines should be releasing into the rest of the body is fully-digested nutrients.  Not all of us are normal ;)  As an infant my son was horribly intolerant to cow's milk.  It would make him bleed from his intestines.  But here's the funny thing... he was 100% breastfed.  The casein was leaking out of my intestines and making its way into my own milk.  That's not "supposed" to happen (at the time, like your daughter, I was having a LOT of abdominal pain and bloating for no apparent reason).  Within two weeks after I took cow's milk out of my diet my son was totally back to normal.  So... the steroids that are supposed to stay in your daughter's intestines are leaking out into the rest of her body.  The good thing about that is that it gives you another clue... your daughter's immune system is hyperactive.  The reason steroids are given for such a wide variety of autoimmune disorders that they work by suppressing your immune system, regardless of what exactly is going wrong. I'm sure this whole thing has been exhausting for your family!  You've been such a good mom to keep fighting for answers, but I know what a RELIEF it will be when you finally get them. Heather __________________

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:14:02 Reply from kgruba Heather;  Thank you for taking the time to read the "novel" that I posted regarding my daughter and for offering your input.  I am trying to absorb everything I can about MCAD as I truly believe that once we find a unifying diagnosis it will some how fall under the big umbrella of MCAD.  The minor scratches that have scarred is just a recent issue for her over the last few months.. she never had this before.  After I type this response I am going to look into Ehler's-Danlos syndrome.  Your explanation of how the steroid could be affecting my daughter so much systemically makes total sense!  Thank you for that explanation.  Most of you on here should have your PHD as you know more than most of the Dr.'s out there on body Chemistry :)                     Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:15:10 Reply from riverwn2 Hi Kim!! Youve gotten some great advice from Heather and shes much more knowledgable than I on much of this, especially as it relates to children. I just want to welcome you here, give you and your daughter a HUGE hug and tell you we do care!!  Its hard to believe she tested negative to any auto immune disease with all those symptoms. Have you seen an expert in mast cell diseases to rule it out? I agree with Heather 100%. If shes doing better on prednisone, thats a huge clue that there IS something , a disorder of the immune system. I would try to email a Mast cell expert Dr and see if you can get her in for a consult. She is sooo lucky to have a Mom like you.. I know your heart hurts when your baby is the one suffering---please let us know what happens and know we DO care. Hugs to both of you!!! Ramona

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:16:51 Reply from kgruba Ramona;     Thank you for your encouraging and supportive response.  This forum has helped me tremendously with not feeling so alone and it also has helped me to understand the disease process and treatment so much better. I was suprised that she tested negative for auto immune also as that was my first guess as to what was going on as we have ALOT of auto immune in the family.  We have not seen an expert in MCAD yet.  Her Pediatric Diagnostician at Mayo talked to Dr. Butterfield about her case and they ordered a tryptase and 24 hour urine, etc. These all can back within normal limits so I think Dr. Butterfield then "shut the door" about this being a possible diagnosis.  Just this last week, with help and encouragement from members of this forum, an email of her situation was sent to both NIH and Dr. Akin in Boston.  I haven't heard back from either of them yet... but it hasn't been long and I know they are very busy. I will let you all know when I hear something.       Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:17:21 Reply from sandi Kim, My heart breaks for you, it's so hard to have disease yourself but when your child is ill, it gets no worse! Good for you for doing so much research! Can you list the current medications Brie is on, are they treating at all with antihistimines? H1 or H2 blockers?On a continuous basis? I did see the steriods, is that continuous? Or  just to alleviate some of the symptoms periodically?  That could be an issue if they are not continuously treating. She's getting better (calming the storm inside with the meds, then they take her off, and she flares and then start the cycle again? ) If so thats not what you do with a mast cell disorder ! I'm sure you've run across the eosinophillic disorders but if you haven't look into those also. Hypereosinophillia, Hypereosinophillic syndrome, Eosinophillic Esophogatis, Gastritis etc ( all spelled wrong I'm sure!)  Again they are as rare as the MCAD disorders so it is frustrating to #1 find information and #2 find doctors that correctly treat the disorders. I don't know where you are, Ishe has so many symptoms, Dr Castells / Akin are probably your best bet. If the gastrointestinal tract is unhappy it will make the skin unhappy etc. Poor lil thing, there is a doctor I found quite educated in gastrointestinal issues along with eosinophillic disorders along with Mast Cell disorders named Dr Philip Miner Jr, he is in Oklahoma. He may be worth a serious consult. Have they ever considered entral feeding for your daughter, there is a hypoallergenic brand, more so than others. I have considered going this route, there is a girl on Inspire.com that does this when her gastro issues are bad and they subside, she uses the special hypoallergenic stuff and Dr Miner is her Dr. If you search systemic mastocytosis she should pop up as 2inOklahoma. I may be contacting her myself for information on the entral feed. She also has eosinophillic disease along with Masto. Thats where I think I am, I have symptoms, in both arenas. Keep it up, and hopefully soon you will find a way to quench this fire inside her and make what she is battling managable. Sandi

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:20:24 Reply from kgruba Sandi; Here is a list of Brie's meds.  We started the steroid in April 2010 it was about 2 weeks after starting this that we finally broke her cycle... We hadn't been able to do this for 2 years before the start of the steroid!  These meds really do help her sympotms tremendously (when she has the steroid with them).  But yet she continues to have one or more symptoms pretty much daily to some extent. I know a little about the long term affects of steroids and was getting concerned so the Dr. agreed to take her off it "and see how she does."  Needless to say she is not doing well at all.  I have gone to her bottle of steroids many times thinking I am going to restart them... but then I began researching again... and found this forum!  From what I learned from this forum she needs a H2 blocker and so I am going to purchase Zantac OTC and add that to her med regime. We live in Rapid City SD so we are far from any specialty Dr.'s and big name hospitals.  Last week an email was sent to both NIH and Dr. Akin asking them for their help in helping us find a diagnosis and proper treatment.  Haven't heard back yet... but it is early and I know they are very busy people.  If I strike out there I will have to go to the next Dr. on my growing list thanks to suggestions from all of you wonderful caring people.                                                                                                           Kim Ferritin 45mg every morning Xyzal 5mg take1/2 tab every morning Prilosec 20mg every morning Allegra 30mg twice a day Pentasa 250mg take one tab 3 times a day Atropine eye drop (1 drop) to the left eye every morning Entocort EC 3mg take 1 tab twice a day (on hold as of 9/20/10)

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:21:30 Reply from sandi Kim these thoughts are random, anyone please quickly comment if I'm out of line, the Xyzal is an antihistimine, but I don't know of anyone on here taking it? I'm not thrilled with the side effects for her age, but there are things we take with the risk because the symptoms are so horrible and hers would qualify, I'm just wondering if upping one more allegra and replacing the xyzal with another h1/h2? But it may be helping her skin issues. I haven't taken singulair, however many of the people on her with gastro symptoms have/do and have seen improvement gastrointestinally with it, these are people without asthma symptoms. My GP has discussed possibly trying it, he's now on board with a mast cell disorder and is and MD but also a homeopath/naturopath and feels singulair is very safe. Again, your daughter is very ill and has a lot of scattered issues going so these are just my evening random thoughts! Also the ferritin, check the inactive ingredients maybe there is something in there giving here some distress. I could also be wrong but it seems like a lot, is she constipated at all? She obviously may be on that much because I'm sure her diet is very limited. Another idea which I'm sure you are all ready on top of is are you using a tide free type of detergent? No dyes / scents etc?  I'm even allergic to dreft, I can't believe they put scent in it! On that subject my daughter got a horrible rash when I switched detergents once and stupidly it took me way too long to figure it out, doctors were sending photos to the university determatologists etc. Somehow I was becoming allergic to the world and didn't suspect this change? Ok, I'm late night rambling, I'm sure you've thought that one through with her skin problems. Same with lotions, soaps etc, preservatives, seed oils etc, strangely I'm currently getting away with Aveeno unscented right now, I'm very excited about that.  I'm a little worried about zantac and prilosec both, they do both reduce acid and if too much stomach  acid is reduced the opportunity for food allergy does increase. I think we have quite a few on here that do both though.  How is her food variety right now, have you ruled out any foods as not tolerable?  I'm curious at onset of her abdominal symptoms if dye free benadryl would make it subside.  If it did, that would give the doctors some more clues, however she's on such a cocktail I'm not sure I'd mix that in without talking to the specialists. You must be going crazy juggling them all, She needs one top doc overseeing it all, then the specialists as needed for issues and consult with the top doc. But until diagnosed, you are still juggling! I've started posting some recipes and food ideas for the food challenged down at the bottom section of the forum under recipes. However if she is eating yummy tasting food, well she may want to launch teff up to the moon :) Sandi

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:22:35 Reply from starflower Xyzal is OK.  It's just the next generation of Zyrtec :) Liquid Benadryl can be a pretty awesome rescue medication (to use once in a while, not every day). It's the first thing I turn to if I start feeling nauseated.  Once in a while someone has a bad reaction to it... Deb can't take it at all!... but it's worth a try at least one time.  The dose is based on weight.  My son (who has a peanut allergy) started at 12.5mL.  We were instructed to give him a dose if we even *think* he ate something with peanuts.  It's the first line of defense! Good advice about looking for food and environmental triggers. Heather

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:24:04 Reply from sandi Yep Heather, the benadryl may be a good "test" if it alleviates the abdominal pain or nausea it may give the docs an idea. And on that subject she is already on allegra, but it did wonders for my gastro and the docs said that was impossible it only helps nasal issues..... sure Ok, I'm going to make that up because I love paying out the wazoo the generic version of an antihistimine! :) and on that subject Kim I only tolerate the Teva brand of allegra! So really check the inert ingredients in her medications also as possible suspect. I havent tried all versions of allegra but after a few I was done and back to teva!

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:24:47 Reply from kgruba Hello Sandi;     Thanks for your message and thoughts on Brie's issues.   I noticed that nobody else that I have seen is on Xyzal and questioned this  myself... but a couple of other forum members said it works like Zyrtec.  Not sure if Zyrtec would work better if this really is  MCAD... but when she was put on Zyrtec in the past she had weeks of EXTREME scalp itching (but no rash).  I was checking her daily for head lice (and so was the school and daycare :)   The Docs thought I was crazy that the Zyrtec would be the cause as "nobody is allergic to Zyrtec"... but this had been the only new thing added to her life at that time.  The itching stopped about 9 days after stopping the Zyrtec  and switching to Xyzal.  But then a few months later she went through another episode of the scalp itching (but not quite as severe)... so not sure if it was from the Zyrtec after all.  Brie doesn't have a problem with constipation... just the diarrhea on occassion.  She was actually taking the Ferritin twice a day up until recently.  Her Ferritin level was down to 9 (should be 20 - 307).  We got her up to the 39 with the twice a day dose.  Now that we are down to once a day she runs in the upper 20's to low 30's. She keeps getting anemic and I think it has something to do with absorption as her low Ferritin, GI problems  and her very small stature have been a problem from day one. Most 5 and 6 year olds are bigger than her and she can wear the same clothes 3 years in a row (no exaggeration here)!  She eats well... with the exception of a two month period about a year ago when her stomach hurt so bad she couldn't eat more than 1 or 2 bites and she'd be curled in to a ball crying from the pain.  Diet and ingredients I don't think are a problem for her. She has been tested for many of the food allergies, gluten, casein, whey, etc. etc. etc. and all are negative.  I can't pin down any triggers as being anything that she ingests or wears (lotions, soaps, etc.).  So far I have seen her react to heat, cold, friction, stress / being upset and animals when she is up close to a cat or dog she will sometimes react and then the next time she  doesn't react to them.  There is truley no rhyme or reason to her skin outbreaks or internal symptoms thus far.   Thanks so much for your information on "I'm a little worried about zantac and prilosec both, they do both reduce acid and if too much stomach  acid is reduced the opportunity for food allergy does increase" ... I sure wouldn't want her to START developing food allergies because of a change I made with her meds.  I'll add this to my list of questions for the Docs too.                                                                                                  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:27:17 Reply from kgruba Hi Heather;     Question for you on the liqued Benadryl... It can help with GI symptoms too?  I have read that a couple of people on here take the liqued form... does that work better than the pill form or is it just faster for the body to absorb?  I have given Brie the pill form several times when she has her SEVERE hive outbreaks but haven't tried it any other time or for her GI symptoms.  It is now on my list to pickup from the store :)                                                                                  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:28:25 Reply from starflower Hi Kim, Although Benadryl is an H1 antihistamine, it does work on nausea... I wouldn't have believed it unless I experienced it myself.  It's not "supposed" to work that way.  The liquid version (sold in the children's section) is the quickest OTC way to get it into your system.  In the ER and for surgeries they give it to you intravenously.  I use the generic, dye-free kind (cheaper than brand-name and it works just as effectively). The thing about "triggers" is that they're not true allergies.  They probably won't show up on any test.  For example... one time I gave myself "food poisoning" with a package of gluten-free macaroni and cheese plus a big cup of hot chocolate.  I'm not allergic to any of those things.  The problem was the heat from the hot chocolate plus the cheese (which has a lot of histamine)... any normal person could have eaten them and been just fine.  They weren't spoiled.  It wasn't until the nice doctor at urgent care prescribed me antihistamines that a light bulb went off in my head.  Doh!!    You might want to try the low-histamine diet: http://www.urticaria.thunderworksinc.com/pages/lowhistamine.htm A few weeks should be enough to tell you if it's making a difference.  I get relief just from avoiding the foods that are naturally high in histamine like seafood, tuna, aged cheese, and leftover meat.  Chocolate bothers me in large quantities, but I can eat the rest of the "histamine-releasing" foods (eggplant, tomato, olives, strawberries, etc...).  Some people with chronic urticaria are sensitive to salicylates instead, so if the low-histamine diet doesn't seem to make a difference you might want to give that a trial run. Heather

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:29:24 Reply from lisathuler Benedryl worked on the nausea because the nausea is due to the histamines being released from the mast cells, deal with the histamine overload and you deal with the nausea.  It's that simple!

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:46:36 Reply from starflower Right, but there are four different kinds of histamine (H1, H2, H3, H4).  The histamine in your GI system is primarily H2... which is why you wouldn't think an H1 antihistamine would work!  I could be wrong, but I can't imagine a doctor prescribing Benadryl for nausea.  Here's what the NIH says about it: Diphenhydramine is used to relieve red, irritated, itchy, watery eyes; sneezing; and runny nose caused by hay fever, allergies, or the common cold. Diphenhydramine is also used to relieve cough caused by minor throat or airway irritation. Diphenhydramine is also used to prevent and treat motion sickness, and to treat insomnia (difficulty falling asleep or staying asleep). Diphenhydramine is also used to control abnormal movements in people who have early stage parkinsonian syndrome (a disorder of the nervous system that causes difficulties with movement, muscle control, and balance) or who are experiencing movement problems as a side effect of a medication. I suppose the "motion sickness" part relates to nausea (it's also neurological), but itchy, watery eyes and a runny nose are classic H1 symptoms. Heather

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:47:35 Reply from kgruba Thanks Heather and Lisa!     I typed my latest posts at 1:45 in the morning.  I would like to blame my "brain fog" onto that but the reality is I need to continually "think outside the box".... it is as simple as blocking the histamines and until this last week I never knew that.  Soooo.... my mind is still triggered to think "allergies".  Also thanks for the helpful link .                                                                                                 Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:48:19 Reply from starflower No worries!!  It seriously took me MONTHS to figure out triggers like heat, cheese, and leftover meat.  These disorders are so weird... you have to train yourself to think differently about symptoms and how to treat them. Heather

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:49:02 Reply from kgruba Thanks to all of you for your suggestions with Brie's meds.  She started the Zantac today and I now have liqued Benadryl on hand if needed. We had a productive day as  I checked with my Insurance Company today and Dr. Castell's and Dr. Akin are covered by my plan - YIPPEE!  Now if I can get them to respond to my email and get her an appointment I will start trying to figure out the financial end of getting her there.  I spoke to her Pediatric GI Dr today and he won't consider making any med changes until he re-evaluates her (first available time to get her into him is January).  I made a call to my son's Allergist / Immunologist to see if he knows anything about MCAD or if he has treated it, or wants to learn about it, or if her can make some recommendations of who may be familiar with it... haven't heard back from him yet but it is one more possible resource locally anyway.  Also starting to formulate my next email to her Pediatric Diagnostician at Mayo... hopefully get that out tonight or tomorrow.  Just want to send you all GREAT BIG HUGS for all of your wise suggestions, encouragement and support!!!!!  We Love you all.                                                                                      Kim & Brie

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:49:49 Reply from jysmith Heather, Is the histamine in leftover meat, spoiled food, aged and fermented foods, etc. H1 histamine or H2? or other?  Does H3 or H4 cause a problem in mast cell disorders?  I looked for that info and haven't been able to find it. Thanks,  Joan __________________

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:50:30 Reply from lisathuler   Great news Kim!   Atta Girl!  Keep knocking at those doors to see which ones are OPEN!!!    One of them most definitely WILL BE!     As to your local doctors, remember, they are not comfortable with working with diseases that they don't know and as my dermatologist says,   Lisa, most doctors don't like masto!  They dont' know it and they don't like what they don't know!  So they aren't helpful!     So, Kim, don't toss a good doctor out just because he's not comfortable with the changing of the meds.  Once you can get Brie into the hands of EXPERTS the others will have to follow in their footsteps!!! My doctors have openly admitted defeat with me!  The hematologist I saw on Tuesday has openly admitted to me as being totally LOST and not knowing what to do, but I've kept sending her information and she keeps reading it and with the recent MCAD diagnostic proposal paper, it explained enough what the forms were so that it gave her the confidence to say that she agrees with Dr. Castells and Dr. Escribano in that I must redo another bone marrow biopsy.  She knows we still need answers so she's willing to do it - gladly!   So, if you've got doctors who recognize how sick Brie is and yet are being cautious, they are being so due to the fact that when there is someone who must sign on the dotted line, it's their name that is in play and so they are required to be cautious!   You know the responsibility, Kim, so be patient!   Don't worry too much about those meds.  If you feel any of them needs to be pulled back then do it on the anti-inflammatory for that's probably the only one which may be any real issue, but adding the Zantac and doubling the Allegra should bring about some really positive improvements! Let us know how it goes! Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:52:16 Reply from starflower Is the histamine in leftover meat, spoiled food, aged and fermented foods, etc. H1 histamine or H2? or other?  Does H3 or H4 cause a problem in mast cell disorders?  I looked for that info and haven't been able to find it. -jysmith Wikipedia has a nice little chart about this... http://en.wikipedia.org/wiki/Histamine And you know... now that I think about it, I'm not sure if it's the histamine that comes in different types...or if it's just the receptors and what they do with the histamine.  Hmmm. I feel a bit of research coming on... I'll let you know if I find some answers. Heather

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:53:05 Reply from sandi Kim, Jumping for joy that you ( she)  can see Dr Akin or Castells!!!! :)   :) :)

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:55:26 Reply from kgruba Sandi; I was so excited about our insurance covering those Docs too!  Now I just hope to hear back from Dr. Akins on the email I sent him explaining Brie's situation and our need for his help.  I asked her Dr. for a referral but they for whatever reason were not receptive to that idea.  So I wrote to Dr. Akin without a referral and I'm just not sure that is enough to get us through the door.                                                                                                    Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:58:07 Reply from starflower Hi Kim, I think Dr. Akin and Dr. Castells prefer that you have a local doctor to work with on a regular basis, but I don't think a referral is necessary unless your insurance requires it... mine doesn't. Heather

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 13:59:00 Reply from lisathuler Kim and everybody!!! I have another option for you all!   Dr. Lawrence Schwartz of Virginia Commonwealth University in Richmond, VA. I wrote to Dr. Schwartz asking him about giving his name as another reference as for patients.  He has given me a lovely reply saying that he will be more than happy to see patients who have Mastocytosis or MCAD or who are SUSPECTED of having this.  He is NOT requiring a full workup for masto for patients before he sees them and he did NOT require that there even be PROOF of mast cell activation.   He only asked that patients come having had some kind of prior investigation and that they bring with them all of that workup.   He has given to me his phone number and I have his contact information as well.    He very well understands the struggle we patients go through in order to find answers and he's more than willing to work with any patient who has a suspicion of a mast cell disorder.   The reason why I did this is because I understand and recognize the work that Dr. Castells and Akin are doing in trying to establish a center for mast cell disorders.  I understand their need to restrict patients to a specific criteria.  They are SWAMPED and they lost some of their doctor support when they chose to restrict their center to that of only mast cell disorders.   It's the first of its kind in the US and until they can gather more colleagues, these two doctors are being overwhelmed!   They had to make some decisions.  It has become THE reference center not only in the US but Canada as well and they had to make some restrictions as to how they could handle patient influx.  Yet, unfortunately this has made it difficult for patients needing help and they need to know that there are other experts out there and Dr. Schwartz is who trained Dr. Castells and has worked with her when he used to be up at Harvard.  He's got major research going on there in Virginia, only you don't hear quite as much from him because he's not connected to the TMS site.   However, he's just as available and just as excellent of a doctor as the other two and Metcalfe.  They are all the tops in the country! So, if any of you are feeling qualms about getting into Boston, you don't need to feel that anymore, Dr. Schwartz will take you as is! Let me know if you want his phone number! Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:00:52 Reply from kgruba Lisa; Thank you so much for always going above and beyond to help everyone find the right Dr.'s, treatment, answers, etc.  You are truly an ANGEL.  I would love to have any information that you have on this Dr. if you think he sees Pediatric cases too.  You can PM me the info if you'd like.                                                                                                            Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:01:51 Reply from sarah4 Hi Kim - I'm pretty sick/brainfogged these days so I didn't absorb everything in this thread but I'm so sorry to hear about what your daughter is going through.  Reading your description reminded me of some of the things I have been dealing with - so far I have been diagnosed with an HDCT ( Hereditary Disorder of Connective Tissue) in the same family as Ehlers-Danlos Syndrome, POTS (Postural Orthostatic Tachycardia Syndrome) and two Urticarias.  Her dizziness/tachycardia may be caused by POTS.  I'm new to this forum so I don't even know what's going on, but wanted to post here in case I can help in any way (and before I forgot). Sarah

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:02:36 Reply from kgruba Sarah;          Thank you so much for your post.  I appreciate you taking the time when it sounds like you are going through a very difficult time yourself.  I am so sorry that you are not doing well! Are you taking the H1 and H2 blockers like most on this forum?  They have sure helped my daughter... but nothing has eliminated her symptoms.  I will definetaly look into the diagnosis that you mentioned... as we are still trying to find a unifying diagnosis for all of her symptoms. I hope you start to feel better and that we hear more from you when you do.  This is a wonderful forum and VERY EDUCATIONAL... maybe you can find some answers for yourself on here.                                                                                                 Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:03:27 Reply from sarah4 Thanks Kim, and I have started the anti-histamines.  The doxepin and Gastrocrom seem to help the most so far, but I haven't been taking them long. The reason I mentioned my diagnoses is that I suspect that the connective tissue disorder may be the underlying problem for me - I am just starting to learn about this, but apparently HDCTs may make people more susceptible to autoimmune problems.  And while POTS is likely caused or worsened by the mast cell disorder, it is really awful in terms of how it makes you feel, and treating it with at least increased fluids, salt and other simple things to help stabilize blood pressure, might help ease some or your daughter's symptoms while you are on your search. Good luck with everything.

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:04:26 Reply from lisathuler Sarah, Have you heard of the Canadian Mastocytosis support site?   They have integrated themselves pretty well within the country and they can tell you who the doctors are who may be within your region.  You're needing some serious investigating, sweety, and they can help you work within your country's health system.   Yet, please don't feel like you need to go leaving us, for the understanding of the disease!  We have a great group of people here and everybody, even our newest, feel comfortable and at home here.  Many of us are Americans, but we've got people here from the UK and Australia and I'm the loner from Brazil (although I am American).  Well ALL know how hard it is to find doctors however, and how important this is.  Yet we have only one Canadian who seems to drift amongst us, Manuella but she lives out in BC (gorgeous country that!).  But as one of the girls here said, many Canadian patients end up going to the doctors in Boston!  Manuella got her diagnosis through Dr. Castells and I'm sure that if she hadn't gone to her that she'd be without a diagnosis still!   One of the thing's I've noticed, and that my own masto specialist has told me, Sarah, is that each country has a tendancy to follow certain schools of thought on diseases and how they diagnose them.  Brazil seems to follow Europe's much more stringent attitudes and I suspect that the Canadian doctors do too, for a lot of Canadian patients struggle to get a diagnosis.  Yet, part of the same battle I go through as Canadian patients also go through is that there is no research center for Mastocytosis in Canada nor is there in Brazil.  A research center within a country helps to raise awareness amongst the medical community and this helps the doctors think along those lines.  Yet, Canada does have research going on in mast cells within other diseases and this is at least a help.  Brazil doesn't have any kind of research in mast cells going on and mastocytosis is a foreign word to them!   So, it's 3 times the struggle for me to get my doctors and my answers.   But the key here for you Sarah, is to keep working with your doctors.  We have some excellent information here and we can also give you more that will help your doctors think masto. It may be that masto is the root of your problems, but without your doctors thinking masto and testing accordingly, then you'll stay without answers.  So, the thing to do is to get them thinking in the right direction.  Give us your email - PM any one of us, me or Heather or Ramona or Deb and any one of us can give you some great information for your doctors.  Print it out and ask them to read it and see what they think about this disease as a possibility.  This is what a LOT of us have to do for the majority of us don't have the priveledge of being in the hands of experts and our doctors are learning right along with us!!   We're here to help you Sarah and we'll do what we can to help you find these answers! Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:05:40 Reply from sarah4 Thanks for the info, Lisa.   I have also joined the Canadian forum - I'm still trying to figure this all out.  But you're right, perseverance does seem to be the key. Sarah

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:06:25 Reply from kgruba I am exhausted!  I know this site is full of encouragement, information  and support and I am so thankful for that... but what do you do when you feel "beat down"?  I have spent the last two weeks spending every minute I have trying to find answers for my daughter ... not even including the countless hours of research I have spent in the last 3 years.  It wasn't until May of this year that I came across MCAD and it fits so perfectly with my daughters symptoms (although she does not have any "diagnostic markers" so far).    The problem is most pediatric patients have only cutaneous mastocytosis / MCAD.  I don't believe this to be the case with Brieann.  She has so many systemic signs of this disease... either that or she has something other than MCAD and it just resembles this diesease. Some of the other diagnosis mentioned so far do not fit her symptomalogy.  I don't know what way to turn anymore.  I have emails out to Dr. Akin and NIH with no response fron either of them.  I have contacted a local Allergist / Immunoligist that I know and trust and this is "to complicated for him and he refers his patients to Dr Butterfield at Mayo."  Input I have had from many people is that Dr. Butterfield is porbably not the "best choice" for my daughter.  I have not tried to contact Dr. Schwartz as he is not covered by my Insurance.  I am so sorry for this "less than positive post"... but I am at a loss as to what to do for her.  It seems that no one out there (meaning Dr.'s) want to help with the diagnostic part of her symptoms and until we get a unifying diagnosis they don't want to get involved and I feel so helpless... as I don't know where to go to get this.  I know one person on this site has seen almost 300 Dr.'s!  I am not sure I can do this.... we need some answers "yesterday".  I am actually contemplating taking her off of ALL of her medications so maybe there will be a severe enough reaction to "shake someone up"... but I know this will only hurt her and may result in some severe consequence and I do not want this by any means.  I am looking for any input that any of you may have for me at this point.                                                                                                              Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:17:13 Reply from riverwn2 KIm, I truly understand your depression over this--we go through it--all of us do and for it to be your child.. that is so unfair to your Mothers love and how hard you try to protect her... I can tell you this much.. we all go through different time periods as masto patients--there are times we are ready to BATTLE ANYTHING AND ANYONE... then there are times we need to privately lick our wounds and try to forget we have any illness--just for a temporary period of time.. when we heal from this depression, we do things positively with family, with love and making great memories- we say we have a disease, it does NOT have us... You need breaks Kim.. its natural... time alone just playing and loving your daughter,.. time to remember who YOU are separate from all of this,... then rest until you are reinergized... You WILL come back even stronger knowing its ok to take those time periods for good mental health :) We love ya, you wont go through this alone--we have stories of the best way to harrass doctors til they do what you want them to LMAO... get some sleep tonight Hon... we'll talk tomorrow !! We got your back girlfriend lol..... Hugs and Love, Ramona

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:17:57 Reply from kgruba Ramona;   Thank you for your encouragement and support.  I know you are all here to help Brie and I through this and I am soooo appreciative of this!  It feels so good to be able to talk to people with sympotms like hers these last couple of weeks.  This is the 1st time I have been able to do this in the 3 years that we have known that "something" is wrong.  My Mom actually asked me last week if I was depressed.  I truly don't feel depressed... just frustrated and overwhelmed trying to get a Dr. to at least take a look at Brie and the possibility of MCAD.  I admit that this has "consumed me" and my every waking moment (which often involves the night time hours that I wake up with this on my mind).  I need to break away from this and take your advice and continue to spend this precious time with the kids and not let it absorb me the way it has these last couple of months. I am just struggling in finding a way to do this.  My personality is such that I will push forward at all costs until I get answers... once I have those answers I can then sit back and take a big sigh and deal with it and move on with life.  I will write more later... got to go for now as she is getting one of her bad headaches at the moment.                                                                                                Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:18:44 Reply from tlcsmom Kim - I know I am late to this thread, but I wanted to tell you that TLC also has scalp problems.  It started long before any of her meds that she is currently on.  When I first realized there was a problem, it looked like she had nits holding on to the hairs about an inch above the scalp.  They didn't come off easily.  She scratched her scalp a lot.  When looking at the scalp you could barely see little red circles in the skin.  When I scratched around I would feel some dried up skin, slightly raised, but these were not related to the red dots.  They were the same color as her scalp.  But, when I scratched off the crust (didn't take much effort) the area of skin below the crust was red and raw.   At the time we only washed her hair every other day.  She doesn't sweat so she doesn't get dirty or smelly as quickly as other children.  We started washing every day.  It helps to keep from getting the little white things in her hair and she has fewer red spots and fewer crusty areas.  The shampoo is also one that adds moisture back to the hair it is made by Pantene. Some how this is related to the condition.  It amazes me how much TLC and Brieann are alike.

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:30:56 Reply from riverwn2 This might be a part of the urticaria. I say that because I used to have a TERRIBLE time with itching on my scalp. It continued for years---but I made it worse by scratching at it.. and I noticed that when I scratched too hard a serous fluid would seep through onto my scalp and make small scabs. Those in return would itch til I scratched them. I had to make a huge effort not to itch them and do things like rub conditioner or oil on my hair (replaced a bad habit with a good one lol). That finally made it heal and go away. I hope the weekend and Holidays find you all healthy and happy, Hugs, Ramona

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:32:05 Reply by kgruba Has anyone ever reacted to the flu shot?  I can't believe I didn't see this before now but I am putting my daughters medical records together for a local Dr. who is going to jump in and help us try to figure out her meds.  Last fall (2009) she had the flu shot and about 1 inch below the injection site she had a HUGE hardened red "lump".  She then spent 3 days being very tired, diarrhea, headache and stomach pains. Then on the 3rd day we could not keep her awake at all and she had a severe headache and dizzyness.  She was hospitalized for 3 days with metabolic Acidosis of unknown etiology.... COINCIDENCE?????

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:33:25 Reply from kgruba Do elevated WBC's and Platelets relate to MCAD?  One other thing I have found now that I have accumulated ALL of Brieann's medical records is that since birth she has had numerous times in which her WBC's are elevated (11,000 - 16,000) and many times where her platelets are also elevated.  And yet there is no indication of infection in the rest of her labs.  She will at times have WBC's in her urine too. Would appreciate any input anyone has regarding this.                                                                                      Thank you,  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:47:01 Reply from lisathuler I wish I knew the answer for you, Kim.   My WBCs are usually on the low side.  My RBCs too.   I think the person best to ask would be Jim (California Jim) about this because he's been diagnosed with aggressive masto and so he would know to what end of the spectrum the RBC's go and the WBCs.    I think when the RBCs drop this is what masto can do, but as to the WBC, I've not the slightest clue. Sorry, Lisa Hey Jim, can you give a hand here?  What have your CBCs shown.  What was it about your labs that made them say that you were aggressive masto?   It would be nice to hear what you have to say about it. Thanks!

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:48:07 Reply from lisathuler As to the flu shot, Kim, I think you really need to find more answers before attempting another shot for Brie.   If that is what she did last year, she could have reacted to not only the egg but to the substances that immunize her from the flu.   And, if she's in a deblitated state, you don't want to provoke her system more. We masto patients can react to a number of things and we've had discussions here of to immunize or not to immunize and the only conclusions we can say to one another is that you know your own body and therefore know what triggers you most and being adults we have the freedom to consider what our risks and chances are and thus base our decisions upon these things.   The fact is, and the argument is, that the advice from Drs Castells and Akins is that we patients should indeed immunize because if we were not to be protected from the flu, or whatever other disease is out there for the taking and then we end up getting it, it would be harder on our bodies than to get an immunization and have to go through a smaller, more controlled reaction.  The reasoning behind this is very sound in that any kind of illness can and will trigger the mast cells for they are automatically called into action when we get sick with a bacteria or virus.   It will wreck less havoc upon our systems to have to deal with any kind of reacting to a vaccination versus that of getting that illness.   Yet, the thing is this - we adults have built up our own immunity to bugs and flus and the such since the majority of us went through our childhoods as healthy kids.  This is why some of us feel that we can indeed handle the risk of not taking these flu shots.  I didn't, but not because I was afraid of reacting to the ingredients - I eat eggs without a problem and I don't think I'd get a big reaction to the vaccine itself.  I didn't get the shot due to the fact that I was preparing for major surgery and the very last thing I wanted to do was to get my immune system all stirred up in the months and weeks prior to surgery.  I was working to try to get it to settle down instead!   Yet when our Fall comes back around I will be getting the shot for in this sense what Dr. Castells says is very true, it's far better to trigger a reaction to the shot itself and even go through any reacting that the vaccination might cause in giving me a mini-flu, than it would be to get the actual flu.   I've had a chance to see what fever can do to me and it's not pretty.  I've felt my body actually get stirred up when I was running a fever due to infection and it's something to feel the interior changes going on inside of me just because my temperature was raised. You see, due to certain mediator release, the disease will produce it's own fever situation.  If I get too overly taxed physically speaking I will run a low-grade fever.  This is due to the prostaglandins being released.  But this is not the same as a fever from an infection for that's a different ballgame.  A fever from an infection called the mast cells into action and this increases the mediator release - the prostaglandins causing the fever are being yanked into action. Not just for you, but for others as well, let me explain - this is what my doctor explained to me. When we have mediator release on a normal basis, like what you have, it's usually due to the mast cells being called into action.  This is the normal process and your body will only call into action what it needs.  Yet the calling of those mediators into action will end up affecting the other mast cells, but because yours are normal, you body won't release more mediators than it needs.  It's self-regulating.  But you've seen the affects of it even though you don't realize it.  For example, if you were crossing the street and you almost got hit by a bus you'd be shaking like a leaf afterwards.  Well, that's due to the mediator release of epinephrine from your sistem which made a mess and has got you literally all shook up.  Yet it doesn't take much for your body to clean up the mess and metabolize all that spilled adrenaline and other mediators.  But for the masto patient, when the epinephrine is release, like it was with you, it's been yanked out of our systems, like it was with you, only when this epinephrine was yanked out so were other mediators from the mast cells, just as it was with you, only you didn't quite feel it.  Yet the problem is that all of this mediator release triggers more mediator release either due to the fact that we have way too many mast cells or that they have a hair-line trigger and are triggered way too easily.  So, what for you just produced mere shakiness, for us puts us into anaphylaxis!   You can ride out the wave and it's a normal surfable sized wave, but for us, it's a tsunami of huge proportions and there's no surfing that! This is what happens with any kind of infection be it bacterial or viral, be it from our own bodies causing an infection or that of an outside invader.  no matter what we do, we get into trouble and this is why some of us figure that we prefer to take the risk.   But this is not the situation for Brie.  She's still building up her immune system and she's got to somehow do this without it taking too much of a toll on her body.  This is why I would suggest, if Brie seems more debilitated than last year that you hold off a tad on giving her the flu shot so that you can get her into the hands of someone who really knows the disease and can tell you whether or not, in her case, that this is worth confronting or not.   Her reaction to last year's vaccination, and no I don't think it's a coincidence, is what would make me think twice about repeating that if I didn't have a doctor who really understood what her case was.   Granted, I know she has to go to school and that she can pick up all kinds of stuff there, but to put her through this again without having a doctor knowing that she could possibly react and then understanding how to help her out, this is what makes me hesitant.   Does she need it?  Yes,   Again it's better her reacting to that versus what getting the illness would put her through.  However, does it have to be supervised?  YOU BET!   And this is why I suggest you hold it off a tad.  Perhaps you should speak with her doctor at the Mayo and ask his opinion as to this, then combine with the local doctor you're working with to hospitalize her over the Holidays in order to give her the vaccination.  It may be guilding the lilly and they may say, What!  Hospitalize a child to give them a vaccination?!   But if that's what it takes to keep her safe, then YES!     Kim, this disease causes some horrendous reactions in some us and depending upon the person and the situation, extra precautions must be taken.   The last time I did a colonoscope my doctors were scratching their heads as to what to do and how to do it!   It's a no brainer for the average person - take the meds at home, and come in with your intestines already cleaned out, do the exam and go back home.  It can be done in a clinic for them - no hospital setting and it's a done deal.   Not so with me!  I've reacted to the process of cleaning out my intestines!  I've not reacted to the meds themselves, but their doing their job!   I've had to take the laxatives before and we never know how I'll react to when they take effect.  Once it put me into anaphylaxis!   Then the time they hospitalized me to do the colonoscope my doctor came in to check on me and there I was with this tremendous rash on my face and chest due again to the fact that the stress in forcing my intestines to function causes me to react.  They really don't know how to handle this and they've seen that in messing with my intestines and the mast cells there, that they get me right on the edge of anaphylaxis, even with the prep medications!   When they saw my reactions they had no doubts that they'd done the right thing in hospitalizing me!  My doctor's don't question any more as to how to deal with me!  They already know, HOSPITALIZATION!     The fortunate thing for any other masto patient who may come their way is that they'll probably overprotect that one since they probably think that all masto patients are as volatile as I am! haha! So, talk with your doctors about this Kim, combine with them as to what is best for Brie and if they say yes, vaccinate, then you DEMAND that they hospitalize her for those days following until they can make sure she's out of danger.   It's the only sane thing to do for her! To change the subject....any further news from the NIH by chance? Hugs! Lisa Give Brie a big hug from me!!

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:49:35 Reply from kgruba Thanks for your explanation Lisa.  Hey... before I forget to ask did Brie's mail ever make it to you?  She has been wondering about this.   I really found your explanation of fevers interesting as Brie has had several episodes of evening and nightime fevers that disappear upon awakening or by mid morning... and yet she is not sick at all. I could never figure out the cause for the fevers.  When Brie had the flu shot last year she was not on ANY medications at that time.  Currently she is on 8 meds!... and when she got the shot this year she did not react (Thank God).  But I am sure it was the meds that kept her in control this year.   As far as NIH goes.... I have records of Brie's entire medical history and the referral for NIH ready to go.  I called the Undiagnosed Disease Program last week to see where I should send them and if there was anything else they needed.  Since they did not have us in their database (since I did not go through them to get this process started) they said I would need to contact Dr. Carter about this.  I sent her an email on Thursday and haven't heard back from her yet.   Also my son has a WONDERFUL allergist / immunologist for his allergies and asthma and I have been reaching out to him regarding Brie.  He has agreed to come on board and help us out!  I am so excited!!!  He is also educated in adult internal medicine.  But due to our predicament of not having a local Dr. who wants to review the med regime and learn about MCAD (just in case this is the diagnosis) he is willing to educate himself more about MCAD and meds used.  I am delivering Brie's records to him on Monday and after he takes some time to go through them and "think" he is going to have her come in to see him.  It will be soooo nice to have a local Dr. willing to learn about this and treat her as a "whole" versus system by system.... which her Dr.'s are currently doing.   One more thing.... I started the Zantac a few weeks ago and we have had any luck with improving things.  Her symptoms continue to escalate very significantly. Due to this I went against my better judgement and restarted her steroid two days ago.  As much as I hated to do this I needed to do something for her until things progress with this local Dr. and/or NIH.  I look at it as a temporary bandaid.                                                                           Have a great day,  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:50:49 Reply from lisathuler Hi Kim! As to the thanksgiving card, it's not arrived yet - but I've not lost hope!  There are times things seem to get sent off to Belize, believe it or not!   I had a card that took about 2 months to reach me for this very reason!  It was stamped on it NOT BELIZE!   All I can figure is that the guy in Maimi ( or wherever)  was a bit tipsy and when he flung the card he flung it into the wrong box and said, Well it's a B country anyway!  hahahahaha!   We're also waiting on a box coming in from the States and gracious knows when that will reach us!   So, don't tell her yet that it's not reached me, please!    Let's keep waiting a bit. I'm sorry to hear that she keeps getting sicker!   I oh so hope and pray that Dr. Carter's intervention there will help open up the doors for Brie there!   I'm really hoping that having Dr. Metcalfe's interest here will help open that door that the one doctor thought was impossible to open!   It's one thing for us adults to go through this torture, it's a whole different ballgame for them babies!   I'm REALLY REALLY HAPPY to hear about the allergist!  This is really GOOD news!   You've got to have someone from home taking care of her and this is good!    Kim, ANY KIND OF INFORMATION YOU NEED, IF I'VE GOT IT, IT'S YOURS!     I KNOW that the others will gladly do the same!    We can swamp this doctor of yours with more information on masto than he ever knew existed!   You just get his email address and let us know and we'll swamp you with all the LITERATURE that doctor needs for the remainder of his days!!!!    If he's open to accepting our help, I'm certainly willing to send to you whatever I can to help teach him!   So, let us know! As to this doctor and the NIH, the more I think about it the happier I am that if you can get her into the undiagnosed study this is great because there may be more going on with her than anybody has ever guessed!   To get to the bottom of whatever is bugging Brie, it's good for them to look at her with fresh eyes! I'll be anxiously waiting to hear how it all goes!   But how is she manageing these days, Kim?   Is she back to school and doing okay, or is she struggling to get through classes?   Have you considered by chance doing some home schooling with her?   There are some excellent curriculum out there for schooling children and since she's so young, this may be an attractive thing to do.  Granted, you do work, but what about a family member?   Alpha Omega is a wonderful school curriculum in which the child is pretty much their own teacher and the parent or teacher only steps in at the time the child needs that extra help.  Perhaps Brie would be better off in an atmosphere were she didn't have to try to keep up with the other kids and could go at her own pace when she's feeling well and then when she's not, she's not pressed too hard.   I went to a gradeschool that used this curriculum and they used it for us kids who had fallen behind in our schools.  My mother saw that when she took my 3 brothers and I from public school and put us into a Catholic school that all three of us feel totally behind due to the changes in the methods of teaching.  At the public school there were no requirements to study, do homework, or anything!  When I got into the Catholic school in 5th grade I'd never even heard of the word Essay before and was totally lost as to what one was or even how to write it!   Needless to say not a single one of us lasted 2 years in that school and we each were threatened with failing our 2nd years there!  The school I was put into was a specialized school in kids who were struggling and I was able to catch up the 2 I'd almost failed and get back into my own grade as well as prepare the the year ahead in only 2 years of schooling!   I am one of those who does better at teaching myself and going at my own pace than that of having to keep up with the class!   The teacher's voice of YADA YADA YADA drones on with me and I lose interest easily  - this is why I'd get lost cause I'd go off into Lala Land with my imagination!   Yep!  Another Calvin! Anyway, a kid like Brie, who isn't feeling well to begin with finds that keeping their attention to the Yada Yada is more punishment than the illness itself!  And if she's not feeling well, then it's pure torture to be in class.  If she's not doing well, Kim, don't grieve at her being out of school so much.  I'm a school principal and I work with kids and their difficulties with learning and this is something I would suggest to any one of the parents in my school who was faced with just such a situation.  There are some kids who are BETTER off not in the school room and even in the school itself.  Education should not be intended to force the child into the mold, but to fit itself around the child's needs.  So much in life teaches us and we learn as we go along.  Once a child has been taught to read and write, or as they say in Portuguese - alphabetized - they take these skills and grow with them.  I was not taught Portuguese, I learned it by listening.  Yet when I got into university here in Brazil I'd been speaking the language for a few years but I was totally illiterate!  I managed to read but one book in Portuguese before I had to take my entrance exams and yet, even though my Portuguese was so pathetic, I managed to pass in the upper 10% of those who were doing the entrance exams!  All through college I kept struggling, taking dictation even from my professors, but I kept pushing along and each year my notebooks showed a gradual improvement in my ability to write the language!  I had to take a Portuguese class right along with my classmates and yet somehow, by God's grace, I passed for my professor sure didn't want me to!  He was indignant to the fact that the illiterate Americana was able to pass in his class when he had others who had to cheat and still couldn't get by!  He called me a warrier in front of the next years class due to how hard I fought my battles!   But this was an incredible lesson for me as an adult and as an educator and it taught me that once you've got those skills of reading and writing, the rest is a piece of cake for you must use those skills to build all of your knowledge upon and the older the child gets, the more it all falls into place.   I'm not saying that Brie can just skip school and then pick up easily where she left off, it's not like that, but as long as you can help her to become a fluent reader this is the key to it all.  A child can indeed have their first years of school totally wasted due to illness or travel or whatnot and it won't destroy their education!  Although the first years of school are where the foundation is laid, it's the last few years that the student is formed!   Those are the years which are more important for her future, not those first few.  Those first few are all years of alphabetization - or in other words, that of forming her understanding of the tools of reading and reasoning, but the information that the children are taught is not as essencial beyond that of learning to read, write and work with their math skills.  The reason why is because the child's brain must mature until it's to a point of taking that information and connecting the dots with it.  THIS point of connecting the dots come when a child is in 5th and 6th grades and their brain is more mature and they begin to reason out effects and consequences and that kind of thing.  From about 5th grade on is when a child leaves it's infancy as to learning and begins to move on towards more adult like reasoning processes.  It's those years where illness will then trip up a child most for then they get behind and then they also get discouraged.   Brie's at a good age right now, Kim in that if you can concentrate her studies on her reading and writing and get her reading books - instill this desire to read in her - then you've got the foundation you need to get her through this situation she's in now with her studies.  This is another reason why home schooling may be ideal for her in that it's not a complicated age for teaching children.  It will also buy for you and her the time you both are needing for her doctors to finally figure out what is wrong and to get her stabilized so that she can get back to school and back into the demands of school life. This is what, as her mom you need to concentrate upon - not just her health, but the overal aspect of her life and how she's living it.  Fewer demands upon her physically will keep her more stable.  The more limited exposure to viruses and such, the healthier she will be.  The more she'll be able to give attention to her studies and the easier learning will be.   Well, I've rambled on long enough but these are some of what my thoughts are about your situation with her.  Like I said, I'm a school principal and a teacher and I know how kids are in the classroom when they aren't feeling well.  Heck, I know how I AM in the class when I'm not feeling well!   I honestly don't know how I got through this year, to tell you the truth!  My substitute teacher ended up disappearing on me after my surgery!   I went into surgery in early June and wasn't expecting to even show my face at my school until late September!  But my sub disappeared and we didn't have anybody else and so I dragged myself in for classes after our winter break in July and from August on I was there and had another teacher in there to help me!  It was a comedy to watch!  My kids were working on plaster sculptures (it was a great project!)  and they had a blast, but it's such a riotous mess that I had them on the patio out back with all of their scraping and sanding of the sculptures and I had to keep tottering out there like an old lady to keep abreast of their work so that they wouldn't bring the mess into the building!   One last thought Kim - about learning.  Kids learn so very easily that it's incredible!  My children were able to fluently translate for their grandmothers (my mother and my mother-in-law) by the time they were each 2 years of age!  They could switch from Portuguese to English and back again at the flip of a switch, whereas I STILL struggle with Portuguese!   Children have a resilience within their minds that leave us adults gasping for breath and what you may fear is a total loss of a year is in reality absolutely NOTHING for Brie!   Don't fear her missing out on some school!  As long as you give her books to read that are interesting SHE WILL READ THEM!   Forget totally about books that go as according to her "reading level" that's trash!   Yep, you heard me, this thing of children reading books as according to their "reading level" is total trash and my own kids are proof to this!   Children will read anything that is INTERESTING TO THEM!  And that's how it should be!   I did not teach my children to read in English!   They were fluent speakers in English from the time they were born and English is the first language they heard and it's all we speak in my home.  But when they got into school, they had to learn to read and write in Portuguese (which they spoke with everybody else but me and my husband).  I tried teaching my eldest how to read in English at the same time and it was a mistake.   It created confusion and I realized that since Portuguese is the native language here in Brazil it was only right for me to give way.  Her whole educational career was going to be in Portuguese and I had to recognized that this was what was right.  So I backed off.  What I didn't know then was that the process of being alphabetized in a Western tongue which relies upon our alphabet and uses the same gramatical processes means that the only major difference between the two languages are that you've got two words or more for every item and so it's a question of vocabulary more than anything else, so I relaxed as to teaching my kids to read and write in English.   Instead, I instilled in them a love of reading!   I'd always read to my children from the time they were babies - it was part of the bedtime ritual and this is what made the difference.  Their grandfather decided to give my eldest two a series of Hardy Boys and Nancy Drew when my two eldest were 8 and 9 and THIS is what got them going!  They no sooner finished up those books than they began rifling the books we have for others literature and they both began working their ways up into MY small library!   My daughter when she was about 13 was reading Pride and Prejudice and LOVING JANE AUSTEN!   My son really got into reading the Michael Shaara books on the civil war and such!  My kids in their early teens were already at adult reading levels and could have cared less and certainly didn't even know it!  They LOVE to read and that's all that's mattered and if you were to sit down and get a letter from them, you'd see that their thought processes and capacity to write clearly are just as good as any other kid coming out of highschool in the States.    This was an incredible lesson for me as an educator as to how children learn and as long as you spark their interest, they'll not only learn anything you've got to teach them, they'll take over and end up giving you class instead! So, Kim, RELAX!  Don't fret yourself too much about Brie and her classes.  She'll catch up!  As long as you teach her the love of reading, you will help her to keep up with her age group and when her health situation improves and stabilizes you will have a much happier child for not haveing been constantly under the gun due to your worries of not keeping up.  She'll catch up, believe me!   And she'll want to be in school for how much she's missed out due to how sick she's been.  The set back is temporary and in the long run - years from now when she's graduating from highschool and going into college you will see how really so very little she's missed out with these first years.  The key here is her reading ability, the rest will follow! Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:52:13 Reply from sandi Ok, my response will sound simple and uneducated, and is my opinion. I'd rather have the flu than the shot, I've reacted horribly to shots, my children also. When I was small I would violently throw up after a shot and be lifelessly sick for days....... so for me a shot = risk of anaphalaxis. No bueno, I'll take on the flu! Just my opinion, but this is one of those situations where you have to make an educated guess to your situation , the doctors very often will still side with their  schooled"percentages"  of " not that many complications, only on RARE occasion.,....fully knowing your daughter is not the average patient somehow their brains just go back into vomiting the memorized info! Again just my opinion, just speaking from my personal reaction history. Whatever has been injected into me has not gone well pretty much ever! Lisa!!! Killer advice!! Awesome and ditto!! Also I wanted to say I'm thrilled about the news of the allergist!! And the NIH, somehow when I replied to this I missed the last two posts by the both of you. I really have to stop popping in when I'm exhausted and brain dead at night! Thats when it all quiets down though :)

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:55:12 Reply from lisathuler   I got the CUTEST LITTLE TURKEY in the mail today!!!  And a great note so beautifully written by one of the prettiest little blonde 8 year olds I've seen in a LONG TIME! Brie, I ABSOLUTELY LOVED your turkey!!!   Thank you so very much for having thought of me and for having made my day today!   I don't often get letters from 8 year old young ladies and it was an ABSOLUTE TREAT to get it from you! And you look so yummy in your pink sweater that it makes me want to TAKE A BIG BITE out of you!!!    My children know that I love to Munch on them and I've only got my son Spencer who is 12 that I can bite anymore because my other two children, Jenny and Chris have gotten to old for Mommy Bites!   When I take a bite I usually also do a lot of tickling to go along with the bites!   So, your Mommy is going to have to do that for me instead! Thank you so very much Brie for your card!   I've got it on my refrigerator and have shown your picture to my kids!  They are impressed that you would think of sending it to me.   I hope I can send you one back in return. Thanks again for the Thanksgiving card!  I LOVE it!   I hope you are feeling better, Brie!   And I hope that Santa can give you something special and your brothers and sisters too for Christmas! Much love to you! Mrs. Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:56:03 Reply from kgruba Mrs. Lisa;    "You are welcome and I hope Santa gives you something too."  I am freezing right now as I was playing outside in the snow....  "Early Merry Christmas!"                                                                                                      Breezy

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:57:12 Reply from sandi Kim, some ideas for Miss Breezy, start going to the library if your aren't that way she's always getting a pile of books to go through. You can even request them online if she's looking for something specific. Don't keep her locked in the "childrens" section. There are tons of interesting books (age appropriate of course for content) out there in the real part! Decorating, crafts, astronomy, pet care, animals, designing, gardening, biographies, geography, architecture, cooking,etc! In the children's section of the public library they actually carry a very popular homeschool science author that are is a blast, Janice Van Cleave is the author, she has a ton of science books loaded with experiments that can be done with literally supplies you have in the kitchen. She has a lot of science project books too, the ones I am speaking of are different. Here's a link to her website which is pretty cool in itself, click on books then see how many books are under each subject! http://scienceprojectideasforkids.com/ Just go to your libraries website and request some for her! Another idea is stories on CD. It may be fun for her to listen to audio stories. The Library will have those also, or look into some online. Adventures in Oddsey is one that comes to mind, but there are tons out there. Also watching movies! Some of the classics, there are quality movies out there! I loved what Lisa had to say about reading! Go Hardy Boys and Nancy Drew! There is a place called rainbow resource online, http://www.rainbowresource.com/index.php They have a catalog that is about 4 inches thick. I love it!  I homeschooled my children from 3rd grade and up.  Even though my kids have graduated and moved on to their colleges.  One does not need to homeschool in order to supplement their childs life with learning! I get a lot of children gifts from this catalog! So many great thinking toys etc! Nothing you will find at a Toys R Us! So from what Lisa wrote and myself here's to some encouragement to nurture your daughter when she is ill and at home! Also if she is struggling anywhere you can get something to supplement that area so she can excel! Please take what Lisa said to heart, she will not get so far behind she will not catch up. The teachers will keep sending her work home, she'll want to do it just to make the teacher happy! If there are any school only books, possibly her teacher would let her keep a copy (loaned) out at home for when she is ill, or possibly when she is bored and feels like reading ahead, that way when she has a bad day she's just reviewing. Kids really learn at their own pace, quickly moving in some areas and struggling in others and just when you think you have it figured out, they do excel in completely the opposite thing you thought they would! Sandi Ok, quick disclaimer about the size of the catalog, I am a geek, a lot of us are excited at the absolute amazing amount of products to look at and others are mortified at all of the products to choose from. Look at it as opening your horizon to more tools, if you even want them! If the catalog is not for you there's bound to be a dork like me in your midst to give it to!

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:57:54 Reply from kgruba Sandi;    You are too funny :)  You are NOT a dork!!!!  And I greatly appreciate your post and the helpful links.  I am so greatful for all of you on this site!  I can't even put into words how much all of the love and support and encouragement and resources that I have found here have meant to me... and how much they have helped Breezy.  Although I have not had any luck yet getting a Mast Cell Specialist Dr. to look at her case I know it is only a matter of time... as thanks to all of you I have the resources and courage to continue to knock on those doors!  I never felt like I had that before and it means so much to me.  You are all dealing with your own mountains to climb and yet you are here day in and and day out helping others. YOU ARE ALL AWESOME and I feel like it is one BIG family on this forum.  THANK YOU!                                                                                                                Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:58:33 Reply from kgruba Can anyone tell me what helps with the "brain fog".  Brie has always had "raving reviews" when it comes to school.  "She gets along well with everyone."  "Everyone just loves her." "She is never a behavior problem. "  "She is a very hard worker and tries her VERY BEST" (although she still struggles in many areas - especially reading).  I work with her DAILY.  I have had her tutored. I had her in the Reading Recovery Program.  And we are now getting her on a "general education plan.".... As they can't put her on a medical IEP until we have an actual diagnosis that fits their criteria.  And yet she does not "retain what she learns (or already knew)."  And now for the very first time ever school is reporting that she "sits in a fog" and is not able to get her work done, focus or concentrate.  I was just looking for any suggestions all of you knowledgable and wonderful people may have :)                                                                                                                Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 14:59:42 Reply from sarah4 Hi Kim - I'm not sure whether your daughter has been diagnosed with POTS or autonomic dysfunction as well as mast cell problems, but many people (including me) seem to have an overlap.  On the www.dinet.org site, there are studies in the Research section that describe the memory and concentration deficits in people with POTS.  They seem to describe some components of the brain fog I experience, but not really the "thinking through mud" feeling.  Hope this helps- Sarah

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:00:34 Reply from riverwn2 Kim, I just started on a med this week to help with my brain fog and i think it is working VERY well. I found this article from NIH: http://www.ncbi.nlm.nih.gov/pubmed/10884588   and started on Vistaril 25 mg twice a day now--and its making a big difference to me. Some people with SM will say that Doxepin helps their brain fog. I tried it, it didnt help me and I think the reason is my Seratonin levels are greatly affected by it and causes my levels to drop, which makes me depressed, so I stopped it. But it may help some people. Im keeping to the Vistaril for now. Hope this helps. Hugs, Ramona

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:01:14 Reply from kgruba Sarah;     Thank you for the link to that site.  It is tremendously informative.  Brie has not been diagnosed with POTS... but reading the info on that site makes me curious as she does have many of the symtpoms on the list.  We may have to investigate that road once we get to the end of the path we have taken to try to get the MCAD ruled in or out.                                                                                                               Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:02:03 Reply from kgruba Ramona;     Thank you for the information on Vistaril.  I printed that article / study and I am taking it to her doctors appointment on Monday.  We need to try some different meds like this for the brain fog and maybe mast cell stabilizers as all of the H1 & H2 blockers, the proton pump inhibitor and the steroid she is on are helping but not taking anything away yet.  I know it is just that we haven't found the right medication combinations or dosages that will work for her.  I have high hopes that this new Dr. will be our answer to this... hopefully he won't let us down.  One question I have... is this med sedating for you?  She already has a huge problem with sever fatigue and sleeps WAAAYYY more than any 8 year old should.                                                                                              Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:02:50 Reply from sandi Kim, I have an idea from a different standpoint, I know she has a lot of gastro issues so I'm guessing her diet is already limited. But she probably really needs additional snacktime. 3 of us in my family are hypoglycemic and we become total vegetables when our blood sugar gets low. My daughter when she was in second grade came down with scarlet fever, then not long after that whooping cough! After re-cooperating she was having horrible fatigue and weakness, she'd get to trembling and was almost passing out, I tested her blood sugar it it was insanely low, did some testing and doc said probably some pancreatic damage due to all her illnesses, and just give her more protein/carb throughout the day and we'd keep an eye on her. She was still in school at the time, so Ihe actually had to write a note to back me up for her to have "snacktimes"  Her teacher called me a few days later and couldn't believe the difference. It was a little awkward for her because she'd go and eat by the teachers desk in the back while all the kids still did there work. Well the teacher talked to me about two weeks later and she was instituting snacktime for the entire class. She said she could tell when Ash was starting to space out it was time, she'd let her go eat for 10 minutes she'd come back and be totally back mentally. The whole class made the change and she said she'd never had kids pay attention so well and was going to keep the policy in her room! Your daughter is very ill so the brain fog/exhaustion goes along with so many of our diseases Masto/ MCAD and gazillions of others, not to mention side affects of antihistimines and drugs but the antihistimes are necessary. Ponder her current diet and see if you can add an additional snacktime  with a good protein/carb mix in the am and early afternoon and see if it helps! At her age I can't suggest an antihistimine with a caffine chaser :) to balance out the exhaustion. Sandi Oh also some deep breathing exercises to just re oxygenate herself, I think a lot of us who don't feel that great are very shallow breathers just out of sheer exhaustion. Thats one thing I constantly swear I'm going to concentrate on and never do.

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:03:46 Reply from riverwn2 Hi Kim, I was greatly concerned that the Vistaril would sedate me on top of everything else I took. The truth is, I feel much less sedated taking it.. which is weird but true for me. All I can say is, talk to her doctor about it and maybe try a small dose to see how she feels on it. Maybe play some kind of game where she has to think more and see if she thinks she is thinking better?? Good luck, give her a hug from me :) Hugs, Ramona

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:04:32 Reply from kgruba I talked on the phone for about 20 minutes with Dr. Carter from NIH regarding Brieann. What a beautiful soul that lady has!  So caring and so easy to talk to.  Although Brie does not fit the protocols for her study since we do not have an actual diagnosis of Mastocytosis (Dr. Carter is the Pediatric Mastocytosis Dr.) she was very concerned about Brieann's history and symptoms and directed me to the right people for the Undiagnosed Disease Program and said that if we can get her into NIH that way then there is a chance she can maybe still get involved in Brie's care if the Undiagnosed Disease Program gets a red flag that would require her to consult.  We knew before our call together that Brie does not fit her protocol and yet she took the time and had the concern to still talk with me about Brieann and to give me some guidance.  I wish all of our Dr.'s (yours and Brie's) were this dedicated to patients! For those of you who have not found "that" Dr. please don't give up.... keep searching and knocking on those doors... as they are out there just waiting for each of you to find them :)                                                                                Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:05:12 Reply from tlcsmom Oh, Kim, God is smiling on both of our girls.  I am so glad that you finally got a response from NIH and that Dr. Carter was so caring and concerned.  It is such a relief, as we found out this week with TLC's Dysautonomia, to have a doctor showing concern and to be so knowledgeable.  Please let us know what you find out, it may be helpful for TLC and her mast cell condition. Many blessings to you both and Merry Christmas! Robin

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:06:03 Reply from kgruba Great news for Brieann!  I finally found a local Dr. who is an Allergist / Immunologist and also has been trained in Internal Medicine who is willing to take on Brieann's complicated case.  He is so wonderful it about makes me cry.  He is so caring and concerned and is taking EVERYTHING she has been through seriously.  And it turns out he was trained at NIH and he actually trained under Dr. Akins and Dr. Metcalfe!!!  He has not had a lot to do with MCAD and usually refers suspected cases to Mayo.  But he is somewhat familiar with it and is very happy to educate himself in order to help Brie.  He understands that we are already aligned with Mayo Dr.'s and that we need someone "at home" to see her frequentlty and adjust meds, etc. And he is willing to do this.  We met with him for the 1st time yesterday and he spent 1 hour and 50 minutes talking to me about her history - and this was after he spent an entire weekend sifting through all of her medical records on his off time.  I can't beleive we found such an angel :)  He is going to review her records a few more times over the next couple weeks and do some research on his own time and then we will meet with him again and see if any of the medication changes he made last night make a difference.  If they haven't he is already thinking of plan #2 in that he will make more med changes and possibly start her on a mast cell stabilizer.  Brie has certainly sparked his interest!  He is quite concerned about the level of fatigue that she has (he saw it in the office when she slept almost all of the visit and was quite difficult to arouse).  The fatigue along with the periods of hypoxia, tachycardia, probable sleep apnea, ect has him very concerned about something neurological going on.  Although he recognizes these can all be symptoms of MCAD he "doesn't want to miss something."  He is going to try to get a Neurologist to consult and is hoping for an MRI since she has never had this area ruled out.  He wants to make sure we are not missing a brain lesion or MS or something on that line.  We both believe that these are probably unlikely but since MCAD is a diagnosis made by exclusion - well this should help with that as Brie has had disease in almost every other body system  ruled out.  I don't think he will leave a stone unturned and this makes me very happy.  We may not get a diagnosis but we now have someone looking at "the whole picture" and willing to treat it as such and not just one body system at a time.  He was even able to see some of the red "spotches" that she breaks out in as she slept.  He was quite impressed - especially since she is already on so many medications.  But again he is more concerned with all of her Neurological symptoms at this point vs. the Urticaria.  He is also going to contact the pathologist personally to discuss if they can do any further tests/ staining on her slides from the GI and hand biopsies.  The medication changes he made are as follows (any input here???): He stopped her Xyzal just in case there is a small chance this may be increasing her sedation and she already is on other H1 blockers He put her Prilosec on hold and felt I was totally in line with starting her on Zantac a few weeks ago and he doubled the dose of this to 75mg twice a day (vs. once a day) He doubled her Allegra dose so it is now 60mg twice a dat (vs. 30mg twice a day) He is going to do further research as to whether or not we should continue the Pentasa He started her on Singulair 5mg at Bedtime He will work towards getting her off of the daily steroid that she has been on for several months                                                                                                         Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:07:12 Reply by starflower That's fantastic news, Kim!!!   Exactly the kind of local doctor you want to have for Brie. Heather

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:08:48 Reply by riverwn2 Kim Im so happy for you and Brie!! See the squeaky wheel got the oil and you won!! I am so happy she will finally have the best health care :) Give that angel a hug from me! Hugs to you both, Ramona

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:10:40 [u]Reply by gruba [/u] Can anyone tell me of hypersomnolence could be related to MCAD?  Brie has had trouble with this off and on for 2 1/2 years but it is becoming quite severe.  If her activity is stopped she can fall asleep instantly!  She can sleep for 8-12 hours a night, take a 2-4 hour nap and be up for only an hour or two and fall asleep at bedtime with absolutely no difficulties. School takes 300% out of her!   I used to blame this on the fatigue... but it now seems to be more than just fatigue.  Even with all of this sleep she still sometimes falls asleep in school - sometimes 2 - 3 times a day.  This symptom waxes and wanes just like all of her other symptoms - but lately when she has it it is much more severe than it used to be. She has already been through the sleep studies for apnea and if she has apnea it is only mild - but even this is still in question.  The hypoxia and tachycardia (especially with sleep) are medically proven though.  She is VERY difficult to wake up during these times (took me 10 minutes the other day to awaken her).  Also her dizzyness is now almost daily and was so severe upon awakening the other morning that she couldn't sit up for about 30 minutes.  She couldn't even dress herself and I had to dress her while she was laying down. Her difficulties with learning and retaining information learned is "nill" at this point. The latest Dr. (local Allergist / Immunologist) we are seeing has seen this 1st hand twice now and he is deeply concerned.  He is referring her to a Neurologist in hopes he will order an MRI.  Our 1st visit with him was 2 hours long and he tried to awaken her 3 times and at the end of the visit he saw how long it took me to get her awake to leave the office.  The 2nd visit was an hour long and the same thing occured.  While she slept she repeatedly broke out with her red "splotches" and some small hives - they would come and go... come and go.  I was excited to actually have a Dr. see this all first hand for once! - but yet deeply concerned for Brie.   Brie has been really struggling these last few weeks.  We have again tried to get her off of the Entocort as she has been on it for daily for 8 months now.  This is the 3rd time we have tried this and she once again showed us that she can not go without it,  Although 60% of it is supposed to be absorbed in the colon "and it has little if any affect systemically" she has proven over and over that it greatly helps ALL of her systemic symptoms.  Two of her Dr.'s are in agreement that it is time to trial Gastrocrom - but I don't think either of them are very hopeful as they both have had "very limited" benefits in the patients they have put on Gastrocrom.  Can anyone who is on Gastrocrom tell me how long it takes to see improvement in symptoms, what the cost is for this, and what benefits they have received? I think her latest  Allergist/Immunologist feels that he is "in way over his head" with her complicated situation - and Bless his heart... he is hanging in there and deeply concerned for her and trying everything he can to help us find some answers.  He agrees MCAD may be in the definite picture but "doesn't want to have her labeled with this until everything else has been ruled out as he doesn't want to miss something else that may be there."  I agree with this approach 100% as she has never had many things ruled out yet (the brain - due to all of her neurological symptoms and the heart - due to her cardiac symptoms).  He has tested her for Porphyria and is looking into "some other rare diseases."  He is asking for help from her local Pediatrician and now a Neurologist.  I had to laugh at him the other day as every few minutes he would say "this isn't normal !!!" and was quite distressed over what he was observing.  I told him that she has done all of this for 2 1/2 years now and unless it is really bad I don't even get worked up over it anymore and it just seemed almost comical to see someone else react the way I used to. (Not a funny situation - but one of those "you had to be there"). Our referrral to the NIH Undiagnosed Disease Program never got off the ground as the referring Dr. (who wanted us to return to them versus NIH) did not follow the required format for the referral.  Although this was a setback for us... it led me to her current Allergist/Immunologist that I have been talking about and believe me he isn't going to leave ANY STONE UNTURNED and if we still don't receive any answers / diagnosis I think he is then willing to make the referral.  Funny how when one door closes another door opens.  I firmly believe there is a reason for this (even though we sometimes don't like it or agree with it at the time) and I have to have faith that this will lead us to where we need to be in regards to finding the answers to help Bireann.                                                                                                   Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:15:27 Reply from starflower Hi Kim, Brie's symptoms remind me of Lisa's problems with constant, prolonged syncope.  I am so grateful that you have a good doctor!!!!!!  She should definitely have neurological and cardiac evaluations. To answer your questions about Gastrocrom... Two of her Dr.'s are in agreement that it is time to trial Gastrocrom - but I don't think either of them are very hopeful as they both have had "very limited" benefits in the patients they have put on Gastrocrom.  Can anyone who is on Gastrocrom tell me how long it takes to see improvement in symptoms, what the cost is for this, and what benefits they have received? -kgruba Did these other patients who experienced "very limited benefits" from Gastrocrom have the same problems as your daughter?  Did they stay on it long enough to experience the full effect?? Gastrocrom is a mast cell stabilizer... it makes it harder for your mast cells to degranulate.  Although it doesn't work for acute symptoms, this is a VERY important tool for mast cell patients because it's the only thing that prevents the release of all mediators... histamine, leukotrienes, heparin, cytokines, VEGF... the whole kit and caboodle.  Some of these you can "block" with medications (like antihistamines), but many of them you can't. I started on the full adult dose of Gastrocrom... two vials, four times a day (eight vials a day total).  Within a week I started noticing little improvements, but it took about 8-10 weeks to reach the full effect.  Unfortunately, it's a very expensive drug.  Without the co-pay on my insurance, it would cost about $900 per month.  It's not something most people could afford without insurance... frustrating!!  If that's a problem for you, ask for a prescription for ketotifen.  Although it's not available in the US, you can order it online from Canada... it's an antihistamine plus a mast cell stabilizer.  (It's perfectly safe, by the way... just not lucrative enough for the FDA to approve).  Ketotifen is MUCH cheaper than Gastrocrom.  I think Lisa takes 6mg/day... that's the highest dose I've heard of. Gastrocrom made a huge difference in my nausea, diarrhea, and dizziness.  It also reduced (but did not get rid of) my problems with joint pain, headaches, and fatigue.  Singulair turned out to be the magic drug for me, especially when I increased from 10mg to 30mg/day (which is a safe dose even for pediatric patients).  I have so much more energy than I used to!!!!!  I don't have asthma... I never would have guessed what a difference Singulair would make.  It took about a month (both when I started and when I increased) to reach the full effect. I'm so glad that you have at least one doctor as concerned as you have been!!!!!!! Heather

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:16:47 Reply from kgruba Heather;          Thank you for your post to my questions.  Brie doesn't seem to have problems with syncope/fainting.  She just falls asleep at the drop of a hat if her activity is stopped and seems to sleep almost non-stop when this symptom has flared up for her.  I haven't read any posts yet of people experiencing this.  Her Dr. thinks that there is "something neurological wrong or a disease process that is causing toxins to build up in the brain and shutting it down."            As far as the Gatrocrom... I have read many posts from people who benefit from this and I am hopeful.  But yes the cost is a concern.  I do have insurance and they cover pretty well but yet her meds alone are about $200 a month out of pocket.... added to my and my sons medication costs puts me in a pinch most months.  Without Insurance her Entocort EC alone costs $750.00 a month.  Can anyone tell me if the Ketotifen works just as well as the Gastrocrom?  If it does I may have to approach her Dr. with this idea.  Heck... maybe we can get the Gastrocrom from Canada too.  I have to admit that the thought of ordering meds from another country scares me... I have no idea who is even a safe Pharmaceutical Company or how strict their regulations are, etc.            Brie is on Singulair but only 5mg at bedtime.  She is also on Ferritin 45mg daily, Allegra 60mg twice a day, Zantac 75mg twice a day, and Entocort EC 3mg twice a day.                                                                                             Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:17:33 Reply from riverwn2 Hi Kim! First, I think Canadian pharmacies are pretty safe. I would order from them I just cant afford even that right now. I would try her on both Gastrocrom and Ketotifen.. many people are on both. There is also a natural mast cell blocker you can order online (I order it off of ebay) called Quercitan.. 10$ a bottle for about 3 months supply.. I know I just sent into shock again--but to be honest, I ran out of Quercitan 2 weeks ago and was ordering more.. that was another reason I was unprotected 2 days ago L( I will order it soon. As far as your kids and all those meds and money---PLEASE go to your nearest DCF dept and apply for MEDICAID for them--it will save you a HUGE amount of money to get their meds for free.Cant hurt to try, I just got approved and almost cried to think my family doesnt have to go without to pay for me meds anymore :) About the hypersomnolence, I do that IF I am reacting.. its like her body needs repair and knows that only sleep will accomplish that.. I will sleep for 2 to 3 days (with small breaks to eat, etc) and go right back to sleep again. Let her, she will wake up much better. Hugs to you Hon... you have the weight of the world on your shoulders and I just wish I could make it better for you!! Love, Ramona

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:18:27 Reply from riverwn2 Ops 2 notes here... first if you do start her on Quercitan, nooo grapefruit products, they intefere with each other. The next thing is that iron--are you sure she needs it?? I ask because the base of iron preps are sulphur and we react to that strongly.. Just look into it ok?? Love you, Ramona

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:19:20 Reply from lisathuler Kim, You and I have talked very frankly in the past and I'm going to do this again now.  I am very, very concerned about this "sleeping".  I don't think this is what it is.  I think that Heather's right and that this is the prolonged syncope that I go through!   It LOOKS like sleeping, BUT IT'S NOT!   I've had my doctors, every single one of them, totally baffled when it comes to this reactiong and it is SO EXTREMELY RARE that MOST doctors have never even heard of this.  It is caused by INTENSE VASOPLEGIA!   And the very fact that she is flushing and rashing all during it only reinforces that this is what it is.  This is what I do!   Brie is a LOT more like me that you even realize!! Kim, I just went through neurological testing for this with the highest authorities in neurology in Brazil!  I can have my doctors speak with yours for my doctor is internationally known and I'm sure your doctors would appreciate my doctor's opnions on this.  However, this is something that I'm going to speak with Dr. Castells about for she's been working with me about this and shés up on all of this.  I also am going to speak with Dr. Escribano about Brie since he has a very intense interest in the children and has many children around the world enrolled in his studies! Kim, I would like you to begin talking with family, friends, churches and begin some kind of a fund drive to help support Brie and her travels to see these doctors for this litte girl is way too sick and she is in DESPERATE NEED FOR ATTENTION!     We have got to rally around your girl, Kim and do whatever we can to see that she gets some attention as soon as possible!!!!   I don't know how we can do it, but GOD DOES and if little Stephanie in England had those people there rally around that child and get her over to Dr. Escribano, then I don't see why we can't do something to help you get Brie to him too!!!   But first, let me knock on some doors and see what I can do to help with this.   Your doctor is 100% right, there is something neurological going on, but I'll bet you anything this is CARDIOVASCULAR more so.  This vasoplegia is a cardiovascular reaction and it's serious.  Brie should be on higher doses of antihistamines bucause this is anaphylaxis causing the vasoplegia.  I don't know the dosese, Kim and I'm still working hard to find my own answers with this, but if the neurologist can do some testing of EEGs while she's awake and while she's in this reaction he should.  He needs to RULE OUT epilepsy and everything else that he possible can.  The chances are that she's got prostaglandin levels that are way over the top and this is the suspicion of what it is with me.   My doctor is wanting to put me on aspirin therapy in order to see if this will give me some relief.  But when I'm reacting, I'll slip into this syncope for HOURS and on the drop of a hat too!   It's not the kind of faint where you lose your muscular tone or even full consciousness and I've had it so that my doctors could not recognize that I was awake since mostly this has happened with medical procedures where they sedated me.  I'd "wake up" to hear voices and situations around me but I was so totally incapacitated that I couldn't even increase my very shallow breathing, but I could feel and was aware of my surroundings.   I heard my cardiologist and anesthesiologist - the very best anesthesiologist at the largest cardiological hospial in latin amercian argued back and forth "She's sleeping" No! it's her reaction" She's SLEEPING!   "NO! IT'S HER REACTION!"    '" YOU''RE RIGHT!  IT'S GONE ON WAY TOO LONG TO BE ANESTHESIA!! IT'S HER REACTION!"   Kim, I know I'm scaring you, and I'm sorry, but this is nothing to look at and say she's sleeping.  You've got to rule out everything including this prolonged syncope before you can safely say it's sleep. Kim, please ask your doctor to write to me.  I need to talk with him and with you at the same time.  I'm going to send you some of my research to back this up.  Unfortunately the one article that this is based upon is written in French!  It was a struggle for me to read even with my Portuguese.  However, my neurologist reads Fluent French and he he speaks fluent English and what I want to do is to get your doctor in touch with mine as well as with Dr. Castells so that he can find some answers.   Now you're probably asking, Why does he need to speak with me?   Kim, I've done an incredible amount of study on this very situation and I have sought out high level doctors around the world and spoken with patients around the world as well, I have not found one single patient until now with Brie, who goes through this reaction to the extent that I do!   It's that rare!   If this truly is what Brie is going through, then I can assure you, this is a reaction that perhaps only 50 patients in the world go through, if that many.   It has taken me so much time and energy just to find the few articles that I have for I recognized it as dangerous, Kim, even though my doctors were totally CLUELESS!!!   It's that rare and it totally baffles doctors for it's not a typical faint!   But because they dont'understand the mechanisms that are behind this this is what has them lost! It's being cause by vasoplegia which is the total opening up of the blood vessels throughout the body.  The syncope happens because there is a loss in blood pressure due to the fact that the blood is flowing way to fast through her body.  There's no vascular tone!   I also suspect that the brain is also overloades with prostaglandins and that this is causingt the neurological system to also be affected, but I've nothing to be able to support this suspicion of mine except for a few bits and pieces. So, this is why I'm now more worried about little Brie Kim and I'm serious about you speaking with people and see what you can do to get some funding from people around you.  We need to get Kim to either Dr. Castells and her crew there or Dr. Escribano in Spain.  There's nobody else I would trust with her - ONLY those two!   Everybody, I know I'm stepping out here on a limb and I know Mom is probably going to pull my ears on this but this is something I'm going to risk myself with for Brie's sake.   I want you all to please consider what you can do to help us get Brie up to either Dr. Castells or Dr. Escribano.  We're needing some brainstorming here and we're needing ideas and help for Kim can't do this alone.  I don't know the slightest thing about fund raising but I had a friend in the US who opened up a bank account in my name and she, herself put in a hundred dollars and went talking with people she knew about me.  Nobody contributed, but then it was meant for me to stay in Brazil and so she withdrew the money and gave it to me when she came to visit last year.  However, the thought was there and I think that this is what we need to do for Kim.  Somebody must have connections and must know how to do this kind of thing and help Kim get organized so that she can speak with the communities around her and see how much money she can raise to help with Brie's cause.   So please, you all, consider this little girl and Kim's situation and let's see what we can do to bless her and to support her in a real and practical way.   Thank you!!! Again, Kim, I'm sorry if I come off strong, but this is where I've been ALL ALONE fighting my fights and so I know what I'm talking about.  I hope I'm wrong, but your doctors are going to have to PROVE that this is sleeping for I'm not convinced.  I've fooled too many doctors who also thought I was just sleeping! Please write to me and give my email to your doctors.  We need to speak and I need to put them in contact with MY DOCTORS! Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:22:30 Reply from kgruba Ramona;     Brie has always had problems with anemia off and on since she was a baby.  When we were at Mayo a year ago her Ferritin level was 9 (it should be 20 - 317).  They put her on the Ferritin 45mg twice a day at that time.  We then got her up into the 30's so they dropped it back to once a day.  With the once a day dose we are maintaining her level in the 20's.       Thanks for the information on the Natural cell blocker.  I was just talking to someone 2 nights ago about the need to check into something like this due to the cost of her meds.... and bingo! You came to the rescue once again!  I just love you all!!!!  I seriously don't know where we / Brie would be today if I hadn't found this forum and all of you WONDERFUL people.                                                                                             Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:25:03 Reply from kgruba Lisa;       I have always admired your generosity.... but at this point I am honestly speechless.  Your letter is a lot for me to take in.  I know that Brie has problems and although I firmly believe she will eventually be diagnosed with MCAD or some type of disease process involving histamines and the others... we still do not have a formal diagnosis.  Although I don't post real frequently to this forum... I think I have read almost every post on here.  And I try my best to keep up daily with all of the new posts.  But reading what most of you go through.... Brie's condition seems so mild compared to most.  I do have to admit that her "sleepiness" or whatever it is and the lack of cognitive abilities has me more concerned than the chronic urticaria, Urinary symptoms, headaches, stomachaches, occassional diarrhea, mild bone pain and other symptoms at this point.       Brie had an overnight sleep study a couple years ago and about all that showed was tachycardia and hypoxia.  There is a question of mild sleap apnea but the Dr.'s here don't believe that the sleep study done was the proper one for a child and thus the we still are not sure about the apnea.  Nothing else stood out in this study.  And again.... this was 2 years ago and I realize that Brie's symptoms have progressed since then.     Is there a test they can do to check for elevated prostoglandins?       She has never had any problems with low blood pressure that we know of.  Or feelings of faintness.  Just the dizzyness that has worsened over the last few months.  She has medically documented hypoxia... but the last time we did an overnight pulse oximetry to followup on this was a year ago and it was totally negative that time.  She also has medical documentation of the Tachycardia.  She was diagnosed last fall with a heart murmur but this was never worked up by a cardiologist and every Dr. that has heard it says "it's benign".  For awhile there she used to complain of "her heart feeling like it was jumping out of her chest" and her "heart hurting" but she hasn't complained about this for several months now.       I have never tried to contact Dr. Castells but I did send Brie's summary (twice) to Dr. Akin asking for his help and never received a response.  I am still trying to get the "appropriate" referral for the NIH Undiagnosed Disease Program and I truly believe this will come... after her local Dr. has done his best to rule everything else out.  He is being thorough and wants to make sure we aren't missing something and also wants to "strengthen her case" for NIH as they accept so few referrals.   I plan to take her back to Mayo come Spring or Summer... but just felt we hit a brick wall there once we involved Dr. Butterfield in doing testing for MCAD and they came back negative.       I just got home from work and need to be up in 4 hours so I better get some sleep.  Thank you for the information / attachments on syncope.   I will read them and get back to you on my thoughts. I am not sure when we go back to her Dr. yet but I have already told him about this forum and all of the wonderful people and the wealth of knowledge here and I would be more than happy to give him your email.  I know he is feeling "over his head" with her situation and would appreciate some help from specialists that may direct him on where to go from here.                                                                          Love and Prayers,  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:30:08 Reply from lisathuler KIM!!! I'VE GOT AN ANSWER!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!! Dr Escribano wrote to me early this morning and he is asking to have your doctors get in contact with him!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!    He said that he can't make any decisions through the internet, but at least he is willing to speak with Brie's doctors and try to help in this manner.   If you are wanting to take her to see him, this can be worked out later!! HOW'S THAT FOR AN ANSWER????????!!!!!!!!!!!!!!!!!!!! I will email you his note! Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:32:11 Reply from sarah4 Hi Kim - Just wanted to let you know that I also have chronic low ferritin despite supplementation.  Others on the POTS forum also have this, and there is a huge overlap between POTS and chronic fatigue syndrome. Sarah

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:33:16 Reply from kgruba Lisa;    I received your emails.  Thank You!  I can't believe how fast a few of you get responses from these Doctors :)  I don't even get a response - LOL.  I will definetely send your email to her Dr. and see if he is willing to make contact and ask for some guidance as to what we can do from this end. I will make sure he has your email too :)  I am praying this may open some new doors for her.                                                                                             With Sincere Thanks,  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:34:36 Reply from kgruba Sarah;         Thank you for your post.  I have read about POTS several times and as far as we know Brie has never showed Orthostatic Hypotension.  I have never observed "pooling" in her extremities, etc.  She has had the tachycardia and hypoxia and definetely has the GI symptoms.  The Chronic Fatigue seems to fit and yes the low Ferritin has been a problem.   She is definetely a "complex" little girl!                                                                                        Thank You,  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:35:55 Reply from kgruba Deborah; I LOVE the assertiveness and enthusiasm you all have!!! :)   Thanks to all of the encouragement from all of you I am getting better at this myself.  I have tried knocking on a few doors... and will continue to do this... but its only with the "backing" from all of you that I have come this far.  THANK YOU!                                                                                       Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:37:30 Reply from lisathuler Sarah,   POTS is a well known and established issue with masto patients just as is Interstitial Cystitis.  Many masto patients suffer from these.  I have both..  But here's the weird thing about it, there are patients who have POTS and IC but do not have masto!  This is what confuses the doctors about us. Kim, I don't think it's anything personal!  I believe that Drs. Akin and Castells are horrendously swamped ever since they changed their practice as a masto research center.  They had some doctors of their group leave them due to these changes and that made them shorthanded.  They've had to be picky about accepting patients now and that's not how it used to be.   Also, both Dr. Castells and Dr. Akin are in incredible demand internationally and they are constantly involved in speaking invitations.  But they also are chairs or member of medical committees with various associations, Dr. Castells is an editor of books and articles and they also have their own research and patients that they are constantly juggling back and forth.  These two doctors must be hyperactive for they honestly on on the go, go, go, and so even though you hoped for a reply and they may even have meant to give you a reply, it's hard for them to do these things.     I have, in fact, one of my other support doctors who was key in getting me into INCOR for my heart surgery tell me that he considers his life like a tidal wave!  He's a researcher in vasoplegia and methylene blue and is internationally known too and he told me that he gets on average 100 emails A DAY!!!  I've had days where I go WOW if I get 15!!   Can you imagine 100 A DAY?!!!!!  YIKES!!! So, Kim, if these doctors reply to me, it's because they've gotten to know me a bit over the past 3 years of my pestering them, poor things!  I've never asked Dr. Escribano for help with a patient before and only a couple of times with Dr. Castells, so they already know that this is highly unusual for me to do so and that in doing so, the must realize that I had a good reason for it.  But don't think that I always get answers - I don't!  And my emails go unanswered at times too, so don't get paranoid!!! Lisa Oh, by the way, Kim, I may be and I hope I am wrong about Brie and the syncope.   It does sound suspiciously similar to what I'm going through, but I'm NO DOCTOR and I can't make any calls on it.   My alarm is that due to how my doctors got so lost and confused with me, I don't want it just brushed off as sleeping as my doctors did with me.  I had to really get drastic with them because they kept seeing me go through HOURS of this syncope when they'd do either invasive medical procedures or give me contrast!  They would use sedation with these situations to keep the reacting to a minimal and so they kept saying, Its the sedation or anesthesia!   I knew the truth!  I finally had to put myself into harms way last year with a CT scan with contrast.  I've become dangerously "allergic" to it and because I had to remove any and all doubts as to it being the fault of the sedation and in order to confirm that yes this was syncope due to the vasoplegia going on, I had to OPENLY REFUSE ALL SEDATION!  I really peeved my angiologist off with that one cause she's not a doctor whom patients dare to confront and I had the nerve to do so!!!  But when I ended up reacting to the contrast and going into anaphylaxis and then 20 minutes after the reaction subsided and the exam was over, I went into syncope for 6 full hours!!!  My blood pressure was high too Kim, and it blew the mind of the high authority in vasoplegia for he didn't know that vasoplegia is possible with hypertension!!   He was astounded that masto could do this!!!  But my doctor had absolutely no way to argue it anymore, I WAS IN SYNCOPE, THIS WAS INTENSE VASOPLEGIA AND IT WAS ALL ANAPHYLAXIS!   This is why I'm facing more testing and another BMB because this is how a recently discovered form of masto reacts - SEVERE cardiovascular reactions.  It's most likely the rarest form of masto and it's called Monoclonal Mast Cell Activation Disorder.  And this diagnosis straddles the fence between the neoplastic ISM form and the non-clonal MCAD form.   So, all of this fighting for answers with me is what has made me stand up straight in hearing what Brie is going through for I've not found any other patient who goes through this like me.  I found one woman on the TMS site who has once gone through 8 hours of syncope following surgery - her doctors thought it was the anesthesia too.  another woman went into 2 hours following an attack and only one other Canadian patient who goes through episodes of about a half an hour and has done it a few times, but Brie is the only one who does it on the drop of a hat, which is exactly what I can do when I'm reacting!   My kids come up to me now and say, Mom, are you there?!  If I don't respond right away, they look over at my husband and say Mom's gone again!!!   Not good! This is why I'm alarmed for Brie for she's little and she doesn't know how to fight against this and if I'm already challenged to find answers, you have got to have any help I can possible lend to you to help that little girl of yours!!!   It's just too rare, Kim, if this is what she's going through and Í can help her doctors to gain some direction from what we've had to do with me just to confirm it.   But don't mind me, Kim, I get a bit strong sounding when I'm concerned about something.  The others have gotten accustomed to me sounding so strong, but it isn't that I'm freaking out.  I just get "emphatic".   I do try to tone it down a bit, though. Hugs!

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:38:58 Reply from kgruba Wow Lisa,  Someone is going to accuse me of Munchausen by Proxy pretty soon!  The more I research the more I see Brie in all of this.  I have been reading up on the Idiopathic Anaphylaxis and although Brie hasn't gone into FULL BLOWN anaphylaxis like many of you.... after reading your stories over the last couple of months I have felt that her 2 hospitalizations and 2 reactions to Anesthesia have come close.  Now as I read more about Idiopathic Anaphylaxis  I can only wonder if her episodes of genital itching and the times she complains of her tongue and / or lips feeling tingly, burning, or "not a part of her" are all a part of her maybe being on the verge of Anaphylaxis???   Although they do not always occur with her other symptoms.... boy is this stuff ever confusing!                                                                                                  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:40:44 Reply from Lisathuler Hi Kim!!! Állow me to give you a suggestion:   Please ask for your doctors cell phone numbers in case of an emergency with Brie.  You are right about your concerns for any doctor who doesn't know Brie could easily suspect this with you.  Having your doctors' cell phone in an emergency will assure that this accusation never occurs because then all you have to do is call your doctor and hand the phone over to the attending and he will be given the low down on Brie and perhaps even better intervention becuase of it.  Brie's situation is such that you need that extra support. Now, let me explain a bit about anaphylaxis and masto. ' Kim, we masto patients do not present with the same symptoms that an IgE mediated allergy patient goes through.  This is due to the mechanisms being different.   An IgE mediated allergy is one where the receptors on the mast cells are primed to react to that specific allergen and it will cause the MCs to open en masse, which is why you get this FULL BLOWN EXPLOSION in the patients.  This en masse degranulation happens throughout the entire body which is why patients will have ALL of the systems involved!   This explains why there is so much swelling of the tissues both on the exterior of the body as well as interior.  Depending upon the genetic makeup of each person you will have certain reactions but this is what will cause the intestines to let loose for they are injecting high quantities of liquid from the walls of the intestines into the feces and they totally let loose like a dam which broke!  This same releasing of liquid and edema happens within the esophagus and lungs and mouth and throat.  But at the same time, this escape of liquids ends up depriving the blood of the necessary amounts of volume and thus the blood pressure lowers!   So this is why you will see skin involvement, respiratory involvement, blood pressure involvement and gastric involvement!  The system is totall overloaded with extreme reacting!!!   And this is what doctors are trained to recognize as anaphylaxis for this is indeed what the majority of people out there go through when they go into anaphylaxis. But we masto patients are different and this is due to the mechanisms involved.  It's still mast cells being triggered, but it's not always an overall reaction.  We tend to react where our weakest spot is, and depending upon where that is, that is what is going to be the more consistant reacting going on, but how that is chosen by the body is something the researchers just don't know. For example:   Two years ago following Christmas and New Years, due to how late I was staying up at night due to the holiday parties with family, I ended up going through 3 seperate crises with only two major symptoms:  hypotension and explosive diarrhea!   It was horrible and my intestines not only let loose, but they kept at it and the intervals went from once every 45 minutes to reducing to every 3 minutes and the pain was intense because there was nothing more to pass except clear liquid and my doctor said that it was getting to the point that I was going through micro hemorrhaging!  I was desperate for the first crisis hit me on New Years day and I didn't know what to do!  I was thinking ER, but I already knew from experience that they didn't know what to do either!   At that point I was still such a rookie at this that it hadn't occurred to me in the beginning that this was anaphylaxis.  I thought it was something I ate!   but by the time I was 3 minutes apart from racing to the bathroom the lightbulb went off and said, THIS IS ANAPHYLAXIS!!   So I took Ranitidine and BINGO!!  EVERYTHING MAGICALLY STOPPED DEAD IN ITS TRACKS AND REVERTED!   The hypotension improved and the diarrhea totally stopped!! When I spoke with my masto specialist she said, Lisa, That was Anaphylaxis!  That was the Masto!!!   When it happened twice more within the next few weeks I knew what to do!   It's never happened since!!!   Why it attacked only my intestines, I don't know, but that was the major weak spot for those 3 times.   Was it anaphylaxis MOST DEFINITELY and I had the involvement of the cardiovascular system as well as the skin for by the last point of it I was doing some flushing.   Kim, according to the AAAI, there must be 2 systems involved to be considered anaphylaxis.  But unfortunately most doctors are not trained to think of a combination of the two and they are instead trained only to recognize only the classic IgE explosion as anaphylaxis.  Yet according to the AAAI, the first major symptom is that of skin involvement, be it flushing or urticaria, or whatever, it doesn't matter, but skin involvement is the first major symptom.  The next symptoms can by any one of the other systems be  it diarrhea, or dyspnea, or throat closing, or hypotension.. it doesn't specify exactly what!   This is a document stating openly that it's AT LEAST 2 systems involved, one being cutaneous and the others being whatever.   But most doctors are not trained this way and so they don't recognize it! My own doctors have been stumped time after time Kim, and during the time when we didn't know I had masto, I ended up in a crisis for 2 days.  I was playing Brazilian Dodgeball with the children of my school (it was a great game!) and when the game was over I was shaking horribly and I could barely speak in Portuguese and any question asked to me was horribly difficult to answer and even in English it was a challenge - I could not think straight!  My husband took me home and I crashed out all afternoon but when I woke up I was so weak and exhausted but I had dinner to prepare and so I pushed myself to try to make dinner, but I no sooner got preparing dinner then I went into a crisis - strong dyspnea, intense weakness, abdominal pain e flushing and I couldn't do a thing!  I called my husband and he rushed me to the ER!  They didn't know what to do with me and I was kept in observation for 3 hours until the crisis resolved itself.  I was there with an IV only.  They took my BP and it was 150/110!  I would be doubled up with the pain and dyspnea but then the dyspnea would subside and I'd go into the faint.  This carried on for those 3 hours and finally resolved itself.  The doctors wanted to give me a seditive, but I refused it for I knew that this was not the problem!!!  Unfortunately the ER in my area loves to give sedatives!  The following morning I was to go see my doctor and take with me results to the 5-HIAA urine serotonin test for carcinoid syndrome.  We picked up my test results and I went into his waiting room there at the maternity hospital.  While sitting there waiting to see my doctor I went back into the crisis - it was biphasic anaphylaxis and since only 12 hours had passed from that of the crisis the night before, I was still reacting!  I had not been put on any antihistamines yet for we didn't know that this was masto, only suspected it by this time.   Well, my gyno was desperate for he put me into an empty office and had me under observation while he had another emergency with a pregnant patient come in and he was by chance the only attending gyno at the hospital that morning - the others weren't scheduled to come in until noon and it was 9AM when this was going on!   So my gyno, (who is the doctor who raised the flag of suspicion for disease) kept me in the other office and would come into see me between that of attending to the emergency case as well as his other patients and it was one of those days which he won't forget due to that situation of mine.  Again my pressure was high, I was flushing, intense dyspnea and abdominal pain and then fainting in between the dyspnea.  He kept me with him for 2 hours and finally had my husband take me to the ER of the main hospital along with a written report of my symptoms.   The ER doctor saw me and the first thing he said after reading the report was   "You don't look so red to me"!   Well, they kept me at the ER, but didn't give me a thing other than an IV and I was in this state for another 2 hours until once again it resolved on its own. Nobody recognized it Kim and to today, it still is hard for them to believe that this is anaphylaxis!   Last year my angiologist put me through a CT with contrast.  She's seen me react and she knows what the disease is and we know how to protect me against the contrast, but you see, my disease is autoimmune in nature and the suspicion is that I also have IgG involvement and that I've become IgG allergic to the contrast so my reactions keep getting stronger.  Well, due to the challenges that my doctors were having recognizing the syncope, they thought that I was sleeping since every time I had done a procedure I was sedated or under anesthesia.  This is importan that in my case that this be used for I am the uncommon patient who has Stress Anaphylaxis.  Not many of us do this, but I'm one who does which means that anything which will stress my system will trigger anaphylaxis.  I've reacted to the testing for a glucose tolerance test - it put a strain on my system even though my test came back negative.  I react to the BP meds when they pull my pressure down too quickly - the reaction doesn't happen immediately when the medicine gets into my blood stream, but only moments later after my pressure begins to fall.  If you inject medication into my vein too quickly, this will cause me to react and if I take laxatives, when the medication begins to take affect, this has also triggered me.  So, those patients who are this sensitive, the only way that they can be dealt with safely for invasive procedures is by using sedation or anesthesia, which is what my doctors were doing.  But, they kept saying that my prolonged syncope wasn't syncope but that it was sleep due to the medications they were using.  So for that CT last year I refused the sedation but the contrast ended up putting me into anaphyalxis immediately as it was injected!  I had intense flushing, intense dyspnea, but no throat closing, just pressure upon my chest, and hypertension.    Yet my doctors didn't give me epinephrine for they are trained that never use epinephrine with a hypertensive patient!   They're right, but not in this case for the hypertension is caused by the mediator release, but because I had an aortic aneurysm I'm sure this was also a deciding factor.   Anyway the dyspnea resolved itself and they had me on oxygen until it did.  But the flushing continued for HOURS afterwards and the pressure was brought down by diuretics because they knew already that using the meds to pull my pressure down quickly would trigger another attack and they couldn't risk that.  But the thing is, that when I went into the syncope for 6 hours this time, my doctor was able to openly state, this IS SYNCOPE due to intense VASOPLEGIA   and yes, Kim, my pressure was 180/110 while in syncope and while in vasoplegia!!!   THIS IS MASTO! Anyway, later on, when I spoke with my doctor about this situation, she ended up saying that she didn't feel that this was anaphylaxis!!!!  Every single one of her colleagues disaggreed as well as I!  She said that this was a "side effect" of the contrast even though she's seen me react before!  But she just couldn't believe it could be anaphylaxis because it resolved without epinephrine!  I was so loaded up with the pre-medications of prednisone and antihistamines that there was no way it wasn't going to resolve one way or another, but because she had me only on oxygen, this shook her up and made her doubt her own eyes and experience with me!!!  Yet, there it was, skin involvement, cardiovascular involvement, respiratory involvement!  3 systems! So, you see, Kim, masto reactions and crises can be intense or mild, but the fact that you have mediator release behind all of these situations it is STILL ANAPHYLAXIS!!!    And therefore there is the POTENTIAL for a very serious situation in that it can snowball and end up getting out of control!!   It is very important that you do not underestimate these reactions of Brie.   You must take her BP when she begins into a crisis situation.  If her BP drops a lot, then you need to hit in with an Epi-pen and get her to a hospital.  Sometimes, Kim, the reaction will show itself without skin involvement and this is because the reaction can be so quick that the skin will be bypassed and instead you can go into a severe cardiovascular reaction!  These are what I am now doing in that I'm bypassing the flush and dyspnea but instead I find myself going straight into the prolonged syncope!   These are severe cardiovascular reactions and this is why in my case I am suspected of having this MMAS form of masto - these reactions are more  typical to this form of the disease.   One of the things the research is beginning to show Kim, is that depending upon the form of the masto, you have certain reactions which are more typical to that form.  The recent report by Dr. Escribano which differentiates between MMAS, SM and nonclonal MCAD is that the MMAS patient doesn't have urticaria or angioedema but has syncope and cardiovascular reactions as well as a low tryptase.  Well, there are many non-clonal MCAD patients who do have angioedema and urticaria as major issues!  I don't.  Depending on the form that Brie has, apparently Kim, the symptoms she presents are different.   This is only NOW being discovered. Well,l hope that this long explanation helps you understand more.  I'm going to send you some files on anaphylaxis that I got from the NIH.  If anybody else wants them please let me know and I'll be glad to send it to you as well.   If I don't already have your email, then PM it to me! Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:41:40 Reply from kgruba Lisa;          Thanks for the explanation of Anaphylaxis.  There sure is a lot to learn!  Upadate on Brie's Dr. and the email I sent him with your email and the contact info. for the Dr. in Spain..... He sent me an email saying he would prefer to follow up and discuss this face to face and he wants to resee Brie in 3 - 4 weeks or after the Neuro consult.  Not sure what to make of this or if it will be bad or good news but I will let you know when I know more.            Some days I would like to call the Dr.'s EVERY TIME Brie has some type of symptom (no matter how small or big) as it is a DAILY occurance for her and although I stress this to them and have calendars and graphs documenting it all.... I really don't think they realize she lives with these symptoms EVERY DAY! (to one extent or another - usually pretty mild when taking all of her meds... but yet still there).            Thanks for letting me vent here for a minute guys and gals.... but I guess I didn't give you an option now did I  :)                                                                                                Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:43:37 Reply from lisathuler AHHHHHH!!!!!!!!!!!!!!!!!    WHAT IS WRONG WITH THESE DOCTORS THAT THEY CAN'T LISTEN???????!!!!!!!!!!!!!!   Here you have one of the HIGHEST AUTHORITIES who has made a simple request to contact him!   This is exactly what my own doctors have done - they are so easily intimidated but also so extremely independant that it drives me NUTS!     Oh Kim, I FULLY understand your frustration!!!!!!   What do they have to do, see Brie dying before they finally move?   This is why so very often I think that we patients just say OH THE HECK WITH IT, I'LL GO SEE THE DOCTOR MYSELF!  and we take ourselves out of their control and take the control back into our own hands!    My gyno was right - all mini dictators! Kim, you have but one thing you can do to maintain that door open!   You must write to Dr. Escribano YOURSELF and thank him for his email and his interest and then explain the situation to him so that he knows that you haven't just let it drop.  You can even send your emails to your doctors and their reply to Dr. Escribano so that he can see the situation for himself so that at least he knows that you are trying to work with him and this will help to keep the door open at least.   Perhaps he can suggest a means of getting your doctors to talk with his.   I don't know what to do from here Kim, but at least you want to keep the crack in the door open with him and the only way I know to do that is to email Dr. Escribano explaining the situation.   Perhaps you need to see if you can find another doctor, one willing to speak and work with him, but then you'd still have the issues of getting them to following up! Kim, what medical universities do you have near you?  I have noticed that university doctors are far more interested in complex cases and far more interested in talking with authorities than small town doctors.  Perhaps you want to venture in that direction.   There's got to be SOMEONE!!! Write to Escribano Kim!   Don't leave him hanging, please! Lisa ps -  I'm upset about this!   I mean really, it's the same situation here at time too!   Why does the certified medical field act as though we patients are their property and that we're not able to make a move without their controling ever move we make?!  UGH!

Title: Re: My daughter's story Post by DeborahW, Founder on 01/23/11 at 15:44:27 Reply from kgruba Lisa Dear;     Words can't express how much you and your efforts, guidance, assistance and support have meant to me!  I have done things I would have NEVER dreamed of doing without you behind me pushing me forward!!! (IE: emails to "top authority" Dr.'s, etc. that I have sent).  I sit back and think.... wow!  I would have never imagined me even attempting these things!  Anyway... I just sent the email to the Dr. in Spain.  I am going to send you this email via your private email address :)       Thanks so VERY much for being a special part of mine and Brie's life!                                                                         We Love You Girl!

Title: Re: My daughter's story Post by Kim on 01/24/11 at 14:28:31 Well Brie had to be rushed into the Dr. again today.  The baking soda rash and redness that sometimes flares into what looks like a burn on her chin has been there for 5 days now.  But this morning it flared into angioedema around her mouth, her entire chin, the tip of her nose and across the bridge of the nose and down the right side of her nose and under her right eye.   He is just as baffled by this as I as baking soda is typically so safe for almost anything and for this to continue and even worsen over 5 days has him wondering just what is going on with her. He said that he has had some time to research Mastocytosis and really thinks she warrents a bone marrow biopsy.  He was on the phone (while we were in the office) calling the pathologist who did her GI biopsies and the Dermatologist who did her hand biopsies and he is asking them to restain her biopsy slides for mast cells as I found out a few days ago that at least the hand biopsies were only stained for fungus and mucin. When I spoke to the Pathology Clinic about this they said "if there were mast cells there we would have been able to see them and we didn't."  Does anyone know if this statement is true?  I would think that if it is a severe clumping of mast cells this may be accurate but I question how this would apply to all cases. And why would they have special stains for mast cells if they can always be visualized by the eye? He himself is arranging for an MRI (due to all of the neurological effects she seems to have) and because our local neurologists declined to take her case as it is "to complex."   He is wanting me to take her back to Mayo since she is established there.  He even said that he will call her Dr.'s there personally and emphasize that they need to look into the diagnosis or he will send us elsewhere to someone who will.   It is really paying off to have a local Dr. who is so invested and one that can see her day to day symtpoms that the Dr.'s 13 hours away from us can't see. :)                                                                              Kim

Title: Re: My daughter's story Post by Starflower on 01/24/11 at 15:59:05 Kim wrote on 01/24/11 at 14:28:31: When I spoke to the Pathology Clinic about this they said "if there were mast cells there we would have been able to see them and we didn't."  Does anyone know if this statement is true? Hi Kim, I've been told this before too and it is absolutely NOT TRUE.  You MUST stain the slide specifically for mast cells (using a dye like toluidine blue).  If you're able to get the bone marrow biopsy done at the Mayo Clinic that should be fine... they have experience with mast cell disorders.  Otherwise, make sure you get someone like Dr. Akin or Dr. Metcalfe to take a second look. Heather

Title: Re: My daughter's story Post by Lisa on 01/24/11 at 16:18:40 Kim Heather is 100% CORRECT!!   Whoever said that to you is an IMBECILE and does NOT know mast cells and how to test for them!! Mast cells MUST be stained with one of either 3 stains - Geimsa, Toledine Blue or TRYPTASE which is considered the best of the three!!   The reason for this is that without the proper staining they can't be differentiated from any other cell for they need to see the granules inside of them to help tell them apart.  And since mast cells will break open and spill their granules, this complicates it further.   So, no, they did not do the proper testing and it MUST be done this.   I'll take it further, there are SPECIFIC markers with the immunohistochemical testing which they MUST be submitted so that they can also see the other cells around them and see what shape they are in too! Yes, I agree with you, this doctor seems to be really tremendous and a definite KEEPER!! I'll send you the information for your doctors, Kim, as to doing the immunohisto testing.   I'm sorry about the neurologists -  I'm not surprised though!!!  I've had these rejections left and right!  It's just too much work for them!   But to tell you the truth, Kim, I highly doubt this is neurological, this is cardiovascular!!!   How do I know, because I live with this and my neurological investigation proved totally NEGATIVE!   I'll bet you anything that she's going through vasoplegia like I do! Lisa

Title: Re: My daughter's story Post by Kim on 01/24/11 at 16:59:03 last week I sent an email to Dr. Castells about Brie's biopsies and that she didn't have the stains for Giemsa,  Toluidine Blue, Tryptase, or Leder.  I asked her if i could have Bries slides sent to her for mast cell staining.  I just received her response today...  she didn't offer to have Brie's slides sent to her but she did send me a list of the needed stains.... her response was  "Mast Cell stains: tryptase, c-kit, CD2 and CD25."  So I sent her suggestions off to Brie's local Dr.  Hopefully he can influence the right people to do the correct stains.                                                                       Kim

Title: Re: My daughter's story Post by Lisa on 01/24/11 at 23:02:33 Kim, I'm going to add a couple of the markers to it: CD34 CD45 These markers look at he leukocites to determine their normality.  These 6 markers together make up the bare minimum of the WHO suggested testing for mastocytosis.  There are others which are on the document that I sent to you - the immunohistochemical processes written by Dr. Escribano.  Read it, but also give it to your doctor. I've been thinking about your having to go to the Mayo.  Kim, why?!  Why can't this be done there at home?  The doing of the bone marrow biopsy can be performed by a hematologist in your region if that doctor is careful.  Then you can have the same sent off to Boston to Dr. Castell's pathologists to test!  They do this!   We can indeed work with our local doctors and find our answers, but it takes a lot of hard work!  Not a single one of my doctors except my masto specialist has ever worked with a masto patient before nor have they heard of the disease!  And yet, I've been poked prodded and turned inside out and we've done it CORRECTLY!   Why do you have to go to the Mayo, a hard, long drive for Brie?!  Why can't you get what you need done there, at home and go to Boston when you're finished?!   This seems to be much better idea instead!    But then I don't know all the logistics of it and this is just my thought. Lisa

Title: Re: My daughter's story Post by Lisa on 01/30/11 at 20:44:04 Kim, How's our girl doing?  How are things going with your doctors?  Have you had any more progress by chance?   Whatever is going on with Brie and you, I just wanted to let you know that we're here and we care! Lisa

Title: Re: My daughter's story Post by chaco on 01/31/11 at 03:39:26 Kim, I used to get that same burned chin rash from laying face down on my chiro's table. Sometimes on my forehead as well. Come to find out, I was reacting to an antimicrobial/bacterial that he wipes the table down with in between patients.  The burn lines would appear where ever my skin made contact w/the table, and would later blister and hurt, felt like a burn, too.  Funny thing, none of his other patients reacted to the wipes/residual. Now he always covers the table with a sheet before I get on it. What type of neurological symptoms is your daughter having?  Hope you don't mind m asking. My son has had worsening neurological problems since age 4. He's now 28. My heart goes out to you and Brie.  Hang in there!  It sounds like you're making some headway. :) Deb Mc

Title: Re: My daughter's story Post by Kim on 01/31/11 at 12:34:27 Deb;     Brieann's neurological symptoms started about a year and a half ago.  They range from severe headaches (these used to be severe and disabling and would occur about 3-4 times a week but now on meds they are only occassional).  The dizzyness has been frequent in the last several months.  She has extreme hypersomnolence for weeks to months at a time - she can fall asleep at the drop of a hat and sleep for hours and it never seems to be enough sleep.  When she gets this she gets extreme irritability.  There have been times we can't seem to get her to fully awake over long periods of time.  She was hospitalized for 3 days because of an episode of an extreme headache, dizzyness and inablility to get  / keep her awake for several daytime hours.  They said she was in Metabolic Acidosis of Unknown cause.  In October she took a 180 degree turn in school for the 1st time ever.  She has trouble staying awake, "sits in a fog," can't remember or retain information she already knew or just learned.  It is really becoming a struggle for her.  Does any of this sound like what your son went through at a young age?                                                                     Kim

Title: Re: My daughter's story Post by Kim on 01/31/11 at 12:50:54 Lisa;    Thanks for your post and comforting words.  "Our little girl" is having a better week!!!! YEAH!!!!  She has even gone 2 days (not in a row) without any symtpoms - can't remember the last time she's done this.  On the  other days the symptoms are fairly mild - with the exception of a severe stomachache, diarrhea and "feeling wrong" last evening.       It seems that after her baking soda burn flared on the 5th day to severe facial hives / angioedema things settled down quite a bit.  She even did some better in school last week per her teachers report.       I contribute this to being back on all her meds with a few extra that her local Dr. started and then due to the restart of her steroid (which I do not like very much - but what do I do about this as she has shown she doesn't do well at all without it).  She's been on this for 9 months now.  I hope we can start gastrocrom and see if this makes a difference and maybe we can wean her off the steroid.       She doesn't go back to her local Dr. until next Monday. On Feb 21st she sees another new Dr. She is an Endocrenologist who saw Brie once when she was hospitalized for the Metabolic Acidosis.  This Dr. hasn't seen brie yet but received the "call for help letter" from Dr. Stelzle and already has an Adrenal stimulation test set up for Brie on Feb. 23rd.       I found out that Brie's hand and GI biopsies were never stained for Mast Cells.  Dr. Stelzle jumped all over that one and called these Dr.'s when we were in the office with him!  We have found out that the stains on the GI biopsies are negative for mast cells.  Still awaiting the ones on the hand biopsies - they had to be sent to another state.     We sure are ruling a lot of things out - but have not confirmed anything for Mast Cells as of yet :(     I am going to send you a private email regarding my correspondence with Dr. Castell's.                                                            Hugs,  Kim

Title: Re: My daughter's story Post by chaco on 01/31/11 at 17:10:12 Hi, Kim. Brie's symptoms more resemble those of my younger son at that age, although that son did/does not have neurol symptoms.  My older son had onset of neurol issues @ age 4. I haven't had time to read the entire thread but I think I saw that your daughter's getting ferritin supplements.  My sons and I react to iron, always have, even though we were anemic we couldn't take it.  It makes me super nauseous, light-headed and fatigued, and repeated exposure knocks me into the abyss (what I call hypoglycemia and/or metabolic crisis). I think I recall reading somewhere that iron can be problematic for folks w/masto.  You might consider taking her off it for a couple days to see if there's any change or improvement in her condition.   I hope you can get some answers soon.  I'll be keeping you and Brie in my prayers. Deb Mc

Title: Re: My daughter's story Post by Kim on 02/01/11 at 13:35:58 Deb Mc;      Thank you for that input into the iron.  I will definetely be checking into this.  She had all of the symptoms prior to being put on iron - but it may be compounding her issues.                                                                               Kim

Title: Re: My daughter's story Post by Kim on 02/03/11 at 16:17:45 Brie had her MRI of the brain last evening.  I was half expecting her to react to the contrast like Lisa and some do.  But this was not the case.  She actually ran into some trouble about 1/2 hour into it (before the contrast was given) - must have been the stress.   They removed her from the donught to give her the contrast and she did not look good at all.  She kept saying "Mom I don't feel well."  "I am so dizzy!" This was after a 1/2 hour of laying almost perfectly still.  They gave her the contrast and finished the test (about another 10 minutes) and she could hardly stand afterwards and just kept saying she was very dizzy and did not feel well.   She also said her left leg was "hurting and numb." The pain in the leg continued through today (but no more numbness) - this is the 1st time she has complained of numbness with pain (other than her lips at times). Does anyone else experience numbness with their pain?                                                                        Kim

Title: Re: My daughter's story Post by Lisa on 02/04/11 at 02:14:49 Kim, The contrast used for an MRI is different from the contrast used for a CT.  The contrast for a CT uses iodine and related material as a major component and this is indeed a POTENTIAL danger to us for it is a known mast cell degranulator. However MRI uses gladiolum and this, although also a toxic compound, doesn't usually create problems for us. I must say, however, when I had an MRI done of my brain in December it caused me to flush as well as to faint and I didn't have the contrast!   There is something about the magnetism which I suspect is the issue here.   I did not have any numbness.   Please be very careful with these exames but most especially those of the CT and X-rays that used that contrast.  Brie must be premedicated for those!!  And it would not be a bad idea to have an anesthesiologist present either.  You never know how a masto patient will react to contrast!!  It's not worth underestimating it.   Lisa I hope Brie feels better quickly!  Poor thing!

Title: Re: My daughter's story Post by chaco on 02/04/11 at 06:04:58 Kim wrote on 02/03/11 at 16:17:45: Does anyone else experience numbness with their pain? I have experienced both together in conjunction with physical trauma, surgeries, including one in which only lidocaine was used. About 3/4 way through my muscle biopsy, I got really cold and started trembling, my entire body. My Legs and arms felt numb and achey, not the major  knock-you-to-the ground pain of EDS 3 or myopathy, but rather a mild pulsating type of bone pain.  This is what I wake up to following general anesthesia, plus nausea, vomiting, spinning, insomnia for weeks, neuropathy in my feet and edema. I don't know yet if I have mastocytosis.  But if I do, it would have to be systemic, the type with an accompanying blood disorder. I've had adverse reactions to almost every med I've taken, too.  Homeopathic remedies are problematic as well.   I hope Brie has recovered from her procedure and is feeling better now. Bless her heart!  What a trooper!  You must be very proud of her. Deb Mc

Title: Re: My daughter's story Post by Kim on 02/04/11 at 06:44:43 Lisa and Deb Mc;     Thanks for the info. I never even thought about the contrast being different for MRI's and CT's - makes total sence.  Brie is CERTAINLy A TROOPER!  She has been through more in the last 2 1/2 years than I have been in 46 years!  As she tolerates it all very well.  She too wants them to "find what's wrong" and is getting old enough to comprehend some of this and is beginning to ask many more questions and for her age is starting to understand things pretty well.  She is struggling in the area of having chocolate in moderation though  :-?                                                        Kim

Title: Re: My daughter's story Post by Lisa on 02/05/11 at 00:09:32 Kim, As to the numbness, when I am in vasoplegia this does indeed happen - this is usually when I'm fainted.   But then, when vasoplegia is going on, there is too much blood racing around and the body is going to try to shut down the periferal blood in order to bring the pressure tone back up.  So the numbness could be coming from this.   However, another thing is that Brie may say that something "hurts" but in truth isn't real pain.  She may not be able to express it any other way - she may not have the vocabulary to express it! Kim, there are times that some of what I've felt has been so weird that I honestly do not have the words to express it.  There are times when the malaise has been intense but it wasn't honest pain, not pain like you and I know pain to be.  When we think of pain we think of the pain that a big bump to our bodies that would cause bruising, or pain from a scrape, or a burn or some kind of trauma and that is what we call pain.  We also call cramps and colic as pain and a stomach ache as pain, but the internal changes that go on with anaphylaxis, the body may register it as pain, but if I have to compare it with what I know to be pain, it most certainly is NOT!   Have I used the word pain to describe some of the things I feel, NO!  I can't really say that some of the feelings going on internally were indeed painful.  Were they awful feeling?  Oh you bet it they were and ARE!   But can I honestly call it pain?  No, not the kind of pain I've ever experienced in life - No!  Awful it is, painful it is not.  Not REAL pain.   Now, ,how would a child describe it, I'd say since children are pretty much black and white, if it weren't pleasureable, then yes, it was painful.   Now, was what Brie was saying pain?  I don't want to make a flat out statement that it was not, for what I feel may not be what she feels.  I'm not patronizing Brie was describing as pain, and diminshing it's value because she's a child and may not be able to describe it well enough.   So, I'm not invalidating her description.   I'm just trying to help you understand just how very complex this situation is in describing the feelings of what she feels.  I have very truthfully been at a loss for words both in English and in Portuguese to try to describe the many feelings that I've had during different episodes, Kim.  There are things that go on in my body that are truly indescribable and the only reason for that is because so few people in the world really go through what we go through so consistently to be able to create a vocabulary word to describe it properly.  And, the problem too is that we patients are all do very different that our doctors probably couldn't do it for us either.   Our only hope would be that a masto doctor were to be stricken with masto and that he/she would be able to describe what we feel.  But until that happens, our doctors are just like you - at a total loss as to what it really feels like and to understand our suffering other than by being a bystander watching it happen.   Lisa

Title: Re: My daughter's story Post by Kim on 02/05/11 at 07:00:57 Lisa;     Your description of knowing something is not right in your body but being unable to describe it makes sense to me as the last 2 SEVERE episodes of dizzyness (and a few other times) that Brie has had she doesn't look well at all and for lack of a better term she looks ill and she just keeps saying "I don't feel good" but can't describe exactly what it is or why she doesn't feel well (other than being dizzy). She seperates the dizziness from not feeling well but is unable to express what else she is experiencing. She'll deny nausea, stomachaches, etc. and just keep repeating "I don't feel well."    This is also seperate from her "pain".  The pain I think is true pain as she says it hurts and she whines or cries and has me massage the areas (such as foot, arm, leg, back).  She will sometimes limp for a little bit if it is in the leg or foot.  She is unable to get settled / situated to find a comfortable position when it is in her back, etc.  She initially had pain in her feet frequently for a year and a half and I alsways contributed it to growing pains.  It wasn't until the last several months that the pain can now be anywhere in her body.            She has experienced the numbness of her tongue and lips but never another body area until the leg during the MRI.       I am anxiously awaiting the mast cell stain results from her hand biopsies 1 1/2 years ago and the MRI results.  They will probably come back negative (as most everything else has)... but at some point SOMETHING has to show.                                                         Stay Well,  Kim

Title: Re: My daughter's story Post by chaco on 02/05/11 at 08:26:45 Kim wrote on 02/05/11 at 07:00:57: Lisa;       I am anxiously awaiting the mast cell stain results from her hand biopsies 1 1/2 years ago and the MRI results.  They will probably come back negative (as most everything else has)... but at some point SOMETHING has to show. That seems to be our problem.  A lot of abnormalities but most are non-specific.  I always thought it was a matter of getting the right tests prescribed.  Not so sure anymore.  My PCP of 23 years suspects we, my son and I, have something new that has yet to be ID'd and classified.  EDS 3, btw, is the only type of EDS for which the cause is unknown, except for a small subset in which Tenascin X deficiency is to blame. My HFI and FDPase Deficiency have mysteriously resolved since eliminating histamine from my diet. Those are inborn errors errors of metabolism for which there is no known cure. None of the docs can offer a plausible explanation for any of this.  I think that's our problem, that my 28-years and running attempt to get a definitive dx is being thwarted by medical ignorance. Science has not caught up with us. Here's to specific findings and definitive Dxs. :) Deb Mc

Title: Re: My daughter's story Post by Kim on 02/07/11 at 18:21:24 YEAH!!!! Brieann did it again.... she is batting 100% at "performing" for her local Dr. who has been so kind as to jump in and try to help us out with her difficult issues and diagnosis of such. She has had 4 visits with him thus far and each and every time she has displayed for him a multitude of the symptoms she goes through.  It is so nice and comforting to have a Dr. actually see this and have all of this in his notes to send to other Dr.'s.  At times I have felt that some of her Dr.'s think that I am just a "Hystrionic Mom" but I know they take what another Professional sees first hand much more seriously. During the last 3 visits he was so concerned that he actually picked up the phone and called other Dr.'s asking them for help or making recommendations for further tests, etc. as we sat in the office with him! I am so pleased with him I wanted to hug him (or cry with relief).   I am so used to her Dr.'s seeing something and brushing it off as an isolated incident with no known cause.  Or dealing with the frustration of being 13 hours away from her specialists and not being able to call and get her in right away so they can see this 1st hand.  When we see them twice a year they just don't understand that these are DAILY OCCURANCES for her.  (to one extent or another). Today she again flushed, began getting a stomachache and bone pain AND she broke out in a TOTALLY NEW type of rash on her chest and back that I have never seen on her before!  He was so intrigued and he actually considered having me run her over to the Dermatologist right away for another biopsy.  But Brie was opposed to this and she has been through so many that we felt it best to wait at this point. The rash was very small (a little bigger than a pencil lead) and they were raised and looked like bumps throughout her entire back and parts of her chest and abdomen.  They itched pretty significantly.  He rubbed on a couple of them lightly and within a few minutes those areas turned into a large red splotch.  He was quite impressed - especially with the amount of meds she is on and yet she still breaks out with different things about 95% the days. (Yes... this is still a great improvement for her!... as they usually are not near as severe as they used to be). He has been studying also :) !  He knew little about Mastocytosis or MCAD disease when we 1st went to him - but things he talked about during our last visit told me he is taking this seriously and had been educating himself.  And today I was even MORE impressed with his knowledge!   He really wants her to have a bone marrow test done by one of the Masto specialist.  He first wants to see what some upcoming appointments with a couple of other Dr.'s and tests will show and then he is ready to personally call Mayo and say "do you want to look at this seriously and follow it up or should I contact Dr.'s in Boston?"  Yes... those were his words! He feels strongly (more so than me) that since she is already established at Mayo with several specialists that this is the place to stay if possible.  She needs to see a Pediatric Neurologist and her Pediatric GI wants Mayo to take a look at the GI issues so this makes some sense to me.  We can get it all done in one place.  But I am not sure about the Masto specialist there and he knows this - we have had a couple of heated discussions about this already  :-/    He also feels that since it is closer for us to travel that it would be easier for us.  I hear what he is saying and he is well aware that this is not my first choice but since I have not had much luck getting the Dr.'s in Boston to take a look at her I truly feel my hands are tied at this point.  And just having a Dr. back us 100% on this possible diagnosis and to push for a diagnosis with us means a lot to me.  My ultimate goal is to have a diagnosis and proper treatment for Brieann... and at this point I will take that any way that I can get it. Her MRI was negative... And we expected this... but he wants to "make sure we are not missing something even more serious before she is given a diagnosis of MCAD and then something else gets overlooked as people stop looking for other causes." He wrote the prescription for Gastrocrom... now I just need to wait and see if my Insurance will cover this.  When I called the Pharmacist on it he said that it is "Investigational" and they may not.  I sure hope this is not the case as we keep adding med after med and increasing the doses of them and we still can't get her symptom free for more than a day at a time here and there.  It is so hearbreaking to see her go through this  :'(                                                                       Kim

Title: Re: My daughter's story Post by Starflower on 02/08/11 at 01:02:07 Hi Kim, I am so happy for you that you finally have a good doctor to work with!!!   [smiley=2vrolijk_08.gif] I don't think the Mayo Clinic is a bad place to go... have you seen Dr. Weiler?  Maybe this time will be a little easier since you've ruled out a few more things.   It's possible that your insurance will cover Gastrocrom.  Mine did... even before I had a diagnosis.  If not, maybe you could try cromolyn sodium powder, mixing it with water yourself.  I'm seriously thinking of giving that a try.  I asked CVS if they could get it and they said "Yes, although you would have to find a store willing to order it."  (Hmmm... like the one I usually go to??) Heather

Title: Re: My daughter's story Post by Lisa on 02/08/11 at 02:54:29 Kim One way or another, you are getting there!!!!   This doctor sounds like he's become Kim's major advocate and he's definitely the dream doctor we all wish we had!!   I can't tell you how happy and relieved I am!!!!  It's tremendous that he's become so intrigued by the masto that he's making great strides like these!  This is tremendous!  You never know how something like this may end up affecting him and his career choices - this is how my dermatologist ended up becoming a masto specialist for she was a pediatrician and became enamoured with the disease and returned to med school!   One thing I know, it seems to me that Brie has found her doctor and that as she matures and ages, he'll likely keep her as his biggest "kid"!   This is a very good situation for her!  Congrats!!! Kim, I wouldn't say that you've not had any luck with the doctors in Boston, for I do think that you have.  Yet, I think it's time you get him to speak with Dr. Castells himself, Kim.   I think that your doctor has some very valid points, but you know as well as we do that although your doctor may have his convictions, unless he were to accompany you and Brie there and personally advocate Brie's case with these doctors, you may find your efforts all in vain!   What your doctor doesn't realize is that when we patients go to see other doctors, they will judge our cases only within their knowledge and capacity and it doesn't matter what our other doctors say or insist, they will only judge our cases as according to what they think and see!!   With masto, this is what ends up causing us so much grief in that one doctor has his convictions but the other just doesn't see it!!! This is why I think your argument against MAYO is totally VALID.  You've been that route before and they couldn't see it and why invest in doctors who aren't going to see it again?!   Kim, ask your doctor to speak with Dr. Castells in that if he sees the need for neurological exams etc, he must not think that they aren't at B&W!  There are incredible doctors there - it's HARVARD!  Mayo has not one benefit over them for B&Ws doctors are in every single field and Dr. Castells will make sure that Brie is seen by all the doctors she needs if your doctor can speak up and work with Dr. Castells to make sure that when Brie goes there that other doctors are also set up for this same time period so that she can see perhaps 2 or 3 doctors in a day.  Perhaps they could even hospitalize her so that Brie can be gone over by a team of doctors for her benefit and comfort.  I'm sure that B&W has this ability, but it's going to take your doctor's involvement with Dr. Castells to rig this up for Brie. If he can't personally go with you to Mayo, Kim, then I honestly agree with you that B&W is the best place for Brie.  But this can't be a singular visit to see only Dr. Castells, but that it needs to be a visit which will give Brie an overall workup by several specialists and this must be orchestrated so that the visit is all encompassing.  It may take some working to get this arranged, but if you doctor will get himself involved in this, I'm sure that this can be arranged!  At least I would hope so!!! Lisa

Title: Re: My daughter's story Post by Kim on 02/08/11 at 12:53:41     The Gatrocrom will be covered (Most of the cost anyway) by my Insurance - YIPPY!  They are going to order it and Brie will start it tomorrow evening.  I sure hope she gets some relief from it and we can get her off of the steroid soon.  I read a lot of people get GI ditress and diarrhe from it and she already has so much GI distress that this may compound it.  But I am thinking only positive thoughts and keeping my fingers crossed.                                                                           Kim

Title: Re: My daughter's story Post by Kim on 02/08/11 at 13:08:12 Sorry about all of the typos in that last post.  My fingers can't move as fast as my thoughts sometimes and I am horrible at previewing my messages.... I wonder if we can get spell check on this forum  :-/

Title: Re: My daughter's story Post by Starflower on 02/08/11 at 13:18:08 It already has spell check :)  As long as you're typing in the "reply" box, when you misspell a word it underlines it in red.  Also, there's a "check spelling" link to the right side of the box. No worries though!  I knew what you meant! Heather

Title: Re: My daughter's story Post by Kim on 02/08/11 at 13:56:03 Heather;     I am so embarrassed!  I checked every square / option above the reply box and couldn't find spell check.  I didn't even see the underlined "spell check" to the right of the reply box! LOL  ;D

Title: Re: My daughter's story Post by chaco on 02/09/11 at 05:47:26 It sounds like your daughter's doc is a keeper, not to mention a good advocate.   What kind of doc is he?  That's great news, too, about your insurance covering the cromolyn. Deb Mc

Title: Re: My daughter's story Post by Kim on 02/09/11 at 13:48:36 Deb Mc;     We have been so very fortunate to have this Dr. jump in here and educate himself both on Brie's issues and history and MCAD / Mastocytosis.  He is an Allergist / Immunologist.  He was actually trained at NIH under Dr. Metcalfe and a few others.  Although he doesn't deal with MCAD / Mastocytosis in his day to day practice. He also is not a Pediatric Dr. per say....  But he does see many children for allergy testing and allergy shots.  That is in fact how I got to know him.  He has treated my sons asthma for about 3 years now.  I truly believe that it was because of this and the relationship we had built over time that he has taken on this enormous feat to try to help Brie.   I count my blessings with this as Brie has about 15 different Dr.'s that she has seen now and none of them wanted to tackle this with us.                                                                                      Kim

Title: Re: My daughter's story Post by Kim on 02/09/11 at 14:04:38 Can anyone share with me what the normal dose for Gastrocrom is?  Brie was started on 100mg 4 times a day and I thought this sounded high for a starting dose for an 8 year old.   We are trying it though.  We started it tonight.  I was soooo glad that it does not have any taste... she made me taste it first  ::)   If it did have a taste to it  I am not sure how I would have gotten it down her.  She is a trouper with swallowing pills but does not do liquids well (and in fact liquids will even make her gag and vomit).   From what I have read on this forum the usual symptoms for someone who does not tolerate it is GI related.  Brie already has a lot of this already so I hope it does not compound her issues.  Is there anything else I should be watching for that would indicate she is not tolerating it?                                        Thanks for your input,  Kim

Title: Re: My daughter's story Post by Kim on 02/09/11 at 14:33:45 I just researched the possible side effects from Gastrocrom and to be honest I had to laugh.  It is not a laughing matter.....   but Brie already experiences most of those symptoms ALREADY....  so it may be hard to figure out what is a side affect and what is her normal symptoms.  Of course I will have to just wait and see if she has a significant change or increase in any of these symptoms.                                                                                       Kim

Title: Re: My daughter's story Post by Starflower on 02/09/11 at 14:45:54 Kim wrote on 02/09/11 at 14:33:45: it may be hard to figure out what is a side affect and what is her normal symptoms. IMO, that's only the only reason those symptoms are listed... because it's so hard for people to tell if they're side effects of Gastrocrom or just the normal symptoms of mastocytosis ;)  I've only heard of a few people having trouble with Gastrocrom.  Nothing too serious.  A mast cell stabilizer is one of the safest medications I can imagine... it does the exact opposite of causing allergic reactions.   BTW... the normal adult dose is 200mg four times a day.  I have heard of pediatric patients taking 100mg. Heather

Title: Re: My daughter's story Post by Kim on 02/09/11 at 14:50:42 Thanks Heather!

Title: Re: My daughter's story Post by Kim on 02/10/11 at 14:04:50 I need some help from all of you "experts" on this one... With all of the research I have done I should be able to answer this one... but i am a little confused at this point. I know that if a skin biopsy is done on a person with cutaneous mastocytosis this is sufficient to diagnose it.  But what about someone who may have systemic mastocytosis?  Will a skin biopsy always be positive????   Brieann has never had a biposy on her different rashes and hives.  But she did have biopsies on her palms when she had episodes of the Neutrophilic Eccrine Hidradenitis.  Her Dr. and I were trying to spare her another biopsy and so he ordered mast cell staining to be done on the biopsies of her palms from 1 1/2 years ago (although I know the collection process was not done exactly as they say it should as the dermatologist used epinephrine and also injected directly into the site).  We felt it was worth a try and I just found out that the stains came back negative.  So did the stains for mast cells on her GI biopsies.   So my question is have we ruled out cutaneous mastocytosis AND systemic mastocytosis?   As always thanks for your help.....                                                                         Kim

Title: Re: My daughter's story Post by Starflower on 02/10/11 at 14:20:44 NO... a negative skin biopsy does not rule out systemic mastocytosis.  That requires a good bone marrow biopsy.  Also... you probably already know that people with MMAS and MCAD have a normal number of mast cells.  My biopsies (skin, upper GI, lymph node, bone barrow) have all been negative.  That hasn't stopped me from going into anaphylaxis ;) Keep pushing for answers! Heather

Title: Re: My daughter's story Post by Kim on 02/10/11 at 14:30:22 Thanks Heather;      Do you have any good reference material for MMAS?  I understand the MCAD but have a hard time figuring out the difference between the different forms of Mastocytosis.                                                                Thanks,  Kim

Title: Re: My daughter's story Post by Lisa on 02/10/11 at 21:07:52 Hi Kim! I've got several articles on MMAS.  I had a doctor send me a bunch and they're probably all that there are out there - it's a brand new diagnosis.  I'll send you what I've got. This is what they suspect with me, Kim.  I'm waiting on Dr. Escribano now in regards to doing it.  He's training a Brazilian doctor as to how to do it and I'm only waiting on this.  He wants to see if she'll take me as her 1st patient after she's learned how to do it.  It's a very special process of flow cytometry where they must really purify the bone marrow in order to find the few mast cells that are present and test them.  There's apparently only 2 or 3 labs in the world who do this.   I think that it's valid doing this on Brie, and the lab to send it to is the NIH.  They can do this testing and I think that if you speak with Dr. Carter about this, or have your doctor speak with her, then this can be arranged.  According to Dr. Escribano, when the tryptase is normal, then this indicates that that there are few MCs in the marrow, which is why they need to treat it very specially in order to find them and then test them.   Most of us don't have the opportunity to do these tests because most of our doctors don't know this information.  I'll bet that if all of us who don't fulfill the WHO criteria for SM were to do this, they'd find that this was what was wrong with us!!!  This includes the IA patients!!!   According to Dr. Akin's work 1/3 of the patients he tested with IA had the genetic defect.  This was the process he used when he was at the NIH that found those MCs and the proof that IA is indeed SM in truth! In my opinion, it's worth going through the efforts to have this done.  You can't fight a hidden enemy and the truth is always best to know for it reveals a great many things!!! Hugs!

Title: Re: My daughter's story Post by Kim on 02/11/11 at 13:31:50 Lisa;     Thank you for the information.  I can't wait to read them.  Since Brie does not have UP and has so many systemic symptoms and now has negative skin biopsies I am wondering what her diagnosis really is.  I think that all of her Dr.'s think because she is only 8 that she MUST just have the cutaneous form (most common in children) with systemic symptoms.... Correct me if I am wrong here.... but since skin biopsies are negative wouldn't that rule out her having only a cutaneous form and be more indicative of systemic MCAD or systemic Mastocytosis?   Maybe we are getting closer to a diagnosis after all!                                                                 Stay Well,  Kim

Title: Re: My daughter's story Post by Lisa on 02/11/11 at 16:34:30 Kim, the large majority of the kids have cutaneous involvement, yes, you are right.  However, there are some of those with cutaneous involvement who are also systemic.  So, that group goes both ways.  Yet, that doesn't rule out that there are some who are purely systemic, so again, you are right.  Just because they don't openly mention it doesn't mean that they don't exist.  I don't know what the percentage would be, but for example, they say that 90% of the patients are children of all the masto patients leaving about 10% adults.  Don't quote me cause it's been a bit since I read this so I know it's around 85 or 90%.  Now, of this 90% of childhood cases, the majority grow out of the disease and only a small number go on into adulthood with it.  Now, out of these kids with cutaneous involvement, I would say that 98% of them have the skin lesions of some kind, leaving perhaps 2% who don't have it and are purely systemic. Why would I say this?  Well, if amongst the adults you have 90% having skin lesions and again 10% who are purely systemic (again I may be off and it may be 85% but I know I'm close), I don't see why if it's this way for the adults why it would not be the same with the kids.  It only makes sense that the same exception of the rule with this disease applies to children and adults alike However, let's take the guess work out of it - write to Dr. Escribano, Kim and ask him his opinion.  I'm sure he'll be more than happy to answer you! As to your question, Kim, YES!  If the skin biopsies rule out cutaneous masto it would throw more suspicion upon the systemic form.  However, like I said, there are masto kids who are both cutaneous AND systemic.   I hope this helps!

Title: Re: My daughter's story Post by Kim on 02/15/11 at 16:50:58 Sorry about this long and detailed post but I am of need of your help and input.... Brie started the Gastrocrom (Mast Cell Stabilizer) last week and I thought I was seeing some improvement (although some people report seeing relief almost immediately others state it takes 6 - 8 weeks). Yesterday and today have been very tough on her.  A week ago Monday she broke out in a totally NEW type of rash right in the Dr.'s Office.  She broke out again with this rash last Thursday and again yesterday morning (when she awoke she had it).  I gave her the morning meds and sent her to daycare and school. When I picked her up from daycare yesterday she had a HORRIBLE stomachache and this lasted about another 1 1/2 hours.  It was to the point she had trouble walking and was almost doubled over.  This then got better but would come and go throughout the evening.  She complained all evening that she "didn't feel well" but could not be more specific than that.  Shortly before bed she then had a headache and some dizziness.  Othrostatic blood pressures were laying 110/70; sitting 98/70; standing 90/80.  I got her to bed thinking this would help and she slept through the night. Then this morning upon awakening she had a HORRIBLE headache and some dizziness. She had great difficulty getting ready for school and I had to help her with a lot of the tasks.  She also had some puffiness throughout her face. I finally got her ready and into the car and off to daycare.  She laid on the seat of the car and complained that her headache was again worse and that she thought she was going to throw up.  As soon as I got her out of the car she grabbed her head with her hand and started bawling saying "I don't feel well and my head hurts." She went into daycare and walked straight to a spare bedroom and crawled into bed and was asleep almost immediately.  By this time her puffiness of the face was worse and her upper eyelids were quite swollen... and she had just begun to cry and it was only momentarily so it was not from crying. She slept for about an hour and then got up and went to the fridge and grabbed her lunch that I had sent for school and took it back to bed with her... ate for about 10 minutes and then fell back to sleep. She slept for another couple hours and then her watch alarm awoke her (Gastrocrom time :) and she got up to use the bathroom. Her babysitter said she was VERY pale and asked if she wanted to go out on the deck (as it was 66 degrees out and all of the other kids were playing in the yard and on the swing set).  She reports that Brie sat in the swing for about 5 minutes and did not play with or talk to any of the kids (SO UNLIKE BRIE!!!) She then walked back into the house and crawled back into bed and was again fast asleep. By this time her daycare provider and I are both quite concerned and I call Brie's Dr. and he says to bring her right in. She slept until I picked her up at 1:00 PM (16 hours of sleeping at this point with only brief awakenings as described above).   She still has some puffiness in her face (but not as much as this morning and the eyelids are no longer swollen).   I get her to the Dr.'s Office and she no longer has a headache or stomachache and she is able to stay awake at this point but she still has mild puffiness of her face and is itching on her arms and face and breaks out in several red splotches that worsen the more she scratches (This is very common for her).  We check her for any other rashes and notice that both of her nipples are excoriated!!!!  It is as if there are no nipples present but just 2 little red spots that look raw and hurt to touch.   She did not even have any itching to this area now or previously and when she showered yesterday they looked perfectly normal!!!!   So the question is... does she have a Mast Cell Disease that is causing migraine type headaches or does she have Mast Cell Disease AND migraines or abdominal migraines?????  The Dr. is as baffled as I but it is VERY APPARENT that whatever she does have it is aggressive.  This girl is on so many medications!!!.. and yet she still reacts pretty much daily to some extent or another.  We keep adding more meds or higher dosages of meds and yet she still develops new symptoms!!!  And she keeps having SEVERE breakthrough symptoms of her ongoing issues.   She sees the Pediatrician on Friday and we are going to pursue with him a trial of migraine medications that can safely be used in children.  This may be a "shot in the dark" but we just do not know what else to do.  Also the next time she gets into a crisis situation like this we are going to take her back to this Dr. (if it is during office hours) and he is going to trial an Epinephrine shot to see what (if anything) this does - just in case this is an anaphylaxis reaction due to a Mast Cell Disorder.   We left the Dr.'s office at 2:15 and by 4:30 the stomachaches restarted (but not quite as severe) and they come and go,  and come and go.  By 6:00 PM the headache restarts (again it is not as severe and comes and goes).  I gave her a dose of Benadryl to see what this does and she is now sound asleep (Benadryl does this to her). I am very concerned for her and have truly run out of options as to what to do for her.  Thank God she has Dr. Stelzle watching over her and will see us at a moments notice.  But he has stepped in to help us out... out of the kindness of his heart... but he is not a Mast Cell Specialist and he willingly  admits this (although it is VERY apparent he has been educating himself on Mast Cell Disorders and is a believer that she is dealing with this).  I have tried to get the Mast Cell Specialists in Boston and at Mayo to take a look at her but have so far been unsuccessful.  The Mast Cell Specialist in Spain seemed very concerned and yet we can't afford to travel there.  I am truly at a loss what to do for her and very concerned about the escalation of her issues over the last 2 1/2 years.                                                                                                              Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 02/16/11 at 01:53:26 Kim, I can't really answer your questions, but the advice I can offer is that sometimes we go into anaphylaxis and people don't recognize it. I think that perhaps she was going into anaphylaxis and no one realized. The biggest clue is the dropping bp. All of the other symptoms are exactly the ones which I used to get when I was in anaphylaxis. The headaches could be a histamine headache, yet another clue to the symptoms. When she has these symptoms, you really shouldn't be taking her to daycare, as it is not safe for her to be without her parent, who understands mast cell disease. When a person is going into anaphylaxis, they can't always think clearly, which you described her as acting that way. If they can't think clearly, they cannot tell you that they feel something is terribly wrong. I will get a terrible sense of foreboding, which is good because my body is realizing that it is in a state of emergency which could be fatal for me. Your daughter is too young to identify that, so she needs you to do that. You cannot do that if you are dropping her at daycare. Even though you have a caring doctor, it doesn't mean he recognizes our kind of anaphylaxis. I had an absolute brilliant internist who tried for years to diagnose me, and yet he (and all the ER docs) NEVER recognized my anaphylaxis as such. All I can say is that I must have a guardian angel, because for as many times as I shocked and no one gave me any epinephrine or any type of medication, I shouldn't be alive right now. Yet, I am, so I am lucky. This is not to say that Brie was in anaphlaxis, but just in case, I wanted to share this info with you.

Title: Re: My daughter's story Post by Lisa on 02/16/11 at 08:33:02 Kim, Don't be apologizing for the length of your posts!  There's no way to explain all of that briefly!! Kim, I'm going to be strong here, so please forgive me if this upsets you.   If Brie was my child, with that kind of behavior going on, I would have bypassed the daycare, called her doctor and told him MEET US AT THE HOSPITAL NOW!   I know you have to work and that you have 2 other children besides Brie and you must support your household and that you can't afford to lose your job!  Oh, how I pray for you, for this is truly a tremendously difficult situation that you are in, but when you have to consider that Brie's life could be hanging on here, you've got some hard choices to have to make then.  I can't imagine that your employers are not going to understand this situation!  Yes, I know you end up having to take off time for doctors visits and the rest, but what you describe to me would have me calling my work from the hospital explaining why I just could not be there!   Yet, here's the thing - if you seem to get Brie through these situations and then slide on through to the next, her doctors never get a chance to see her at her worst, which is exactly what they need to see!!!   I'm sure that if her doctor had seen her going through what you are describing he would have hospitalized her immediately and begun running a battery of tests on her to try to help figure this out once and for all!   He'd at least have run an tryptase and urine histamines at this time because those should be higher if she's truly going through anaphylaxis.   You see, Kim, although some of us won't show these mediators as a baseline - when we are not reacting - the often will increase when we are in a crisis state.  So, you may inadvertently end up missing those markers by keeping her at home and "getting through it".   I strongly suggest that when you talk with Brie's doctor that you ask him for his cell phone for an emergency situation.  Tell him what hospital he wants her to go to and then combine with him that when Brie is going through another one of these, that when you call him, he will then call the hospital and order her hospitalization so that he can begin running a battery of tests on her!!!   He's got to see if he can "catch" the mediators when she's in a crisis situation.  Tests need to be run during these situations to try to gain more understanding and insight.  I would also ask him to speak with Dr. Escribano, by email or phone, and have Dr. Escribano's recommendations as to what tests to have run so that this can finally be resolved!!   This way, by his being there while she's hospitalized, he can also giving her epinephrine while in a safe environment and be able to observe her with all of the necessary equipment he needs to intervene should she react to the epinephrine.   This is the battle plan that I would lay out with my doctors, and I think you need to consider just this very plan with her doctor!!!!  Something is seriously wrong with Brie and he knows it, but he's got to be wise as to how he's going to deal with this and the only way to do it is to have it fully planned out so that things can be done with cool heads instead of those which are running after the situation.   Lisa

Title: Re: My daughter's story Post by Kim on 02/16/11 at 17:15:46 Deb and Lisa;         I honestly hear what you both are telling me and I appreciate your insight.  I am not making excuses here.or trying to minimize Brie's crisis... but need to explain that Brie's neurological symptoms are not knew.  She can be in the hyper-somnolence for days, to weeks, to up to 2 months at a time.  Yes it is VERY concerning and in the beginning I did stay home with her.... but thank God nothing more serious ever came of it and she always came out of it.  I have addressed this with her Dr.'s and until Dr. Stelzle nobody paid any concern to it.       Brie has been with the same daycare provider for over 5 years.  She has walked through every step of this with us. She is very vigilant and concerned... like a 2nd Mom to Brie.  She has even started to keep a log of Brie's symptoms.  When we thought Brie would be accepted at Boston she told me she was going with us.  If it wasn't for all of this I would in no way leave Brie in her care when she was really struggling.  I would in no way leave her in the care of her weekend daycare provider as there is not this level of care, knowledge and hyper-vigilance as there is with the weekday provider.      I have questioned whether this is Anaphylaxis since reading about Mast Cell Anaphylaxis on this forum and how it differs from the "typical" anaphylaxis.    But I just do not know.  And Dr. Stelzle (as of yesterday) is now questioning this himself.       The problem with our "Modern Day Health Care" is that our Primary Care Physicians no longer get involved in a patients hospitalization.  When they are not in the "Office" they are "off duty".  If we report to ER they are seen by the ER Dr.'s (who I am sure  would know NOTHING about this) and if she was hospitalized (which I doubt) she would be admitted under and followed by a "Hospitalist" who knows absolutely NOTHING about Brie and I am confident in saying that they probably also know nothing about Mast Cell Disorders.  She has displayed many of these symptoms (granted to a lesser extent) during our 2 visits at Mayo and they never  got near as concerned as Dr. Stelzle has been.    After yesterday we do have a "game plan" of me bringing her directly to DR. Stelze's office for a trial of Epi if this occurs again.... but of course this depends on if it is during "office hours." He will then order a Tryptase and 24 hour urine.   I don't like this any better than either of you  :'( but truly do not have a choice in all of this.  I do have Dr. Stelzle's home and cell numbers.... but he can't go to ER or admit.  He can tell me what additional meds to give... but other than that we will be in the hands of someone who doesn't have a clue about Brie's situation.       Being a nurse I know the "typical" signs of anaphylaxis and wouldn't hesitate to call an ambulance or rush her to ER with the basic signs of anaphylaxis or if her pulse was thready and I could not arouse her at all, etc.  But with the symptoms that she does display I honestly feel she gets better care in Dr. Stelzle's office than at our local ER.  I know this is sad to say.... but I know this as fact.  We have one hospital in this town and I work for that hospital.  I have also spent countless hours in this ER and at the hospital for hospitalizations with my Mom, and times with Brie and my other 2 children.  I am quite ashamed to say I actually work for a facility where the care is questionable.... but that is the truth and they are the only hospital within 6-7 hours.       I know there is something seriously wrong with Brie and with our 5 visits with Dr. Stelzle in less than 2 months I truly believe he is also convinced of the same.  But until we get the few specialists in the US involved in helping us with this I fear we are going to go without answers and proper treatment.  Maybe it is something other than a Mast Cell Disorder.... at this point I am so confused as to how aggressive her issues are and I am reaching out in any way possible to get specialists interested in her case and care.     I know I keep falling back on all of you and I appreciate your concern and time involved with this.  You guys are my "sounding board" and "educators" and I can't thank you enough for this!!!!                                                                    Kim

Title: Re: My daughter's story Post by Lisa on 02/17/11 at 02:19:07 First of all Kim, PLEASE FORGIVE ME!!!   I was not at all criticizing you and am very upset with myself that I didn't word myself better and that you ended up feeling that I was.   You are TERRIFIC MOTHER doing the very best that you can with a tremendously difficult situation.  In my book you are not the mother of the year, but MOTHER OF THE DECADE or even more because you have really been fighting tooth and nail to be able to get answers for your daughter and every time you turn around you encounter a blockade of some kind!!  I honestly don't know where you get your strength and I'm certain that there are days you wonder that for yourself too!!!   You are doing a TREMENDOUS JOB of doing everything you can to help your daugher and you should be proud of all that you've done for it's truly worthy of praise!!! When I was being strong in my way of phrasing things it was to help pass on some of my strength and convictions on to you for I know that there are days when you would rather sit down and just cry for how hard it is!  I'm sure that in the middle of the night that's often what you've done for I can feel just how frustrated and sad this situation has made you.  A weaker woman would have given up by now, but the fact that you keep insisting with doctors and pushing for answers testifies just the amount of determination you have to get answers for your girl!!   Yet, I know that there are times when you don't know where to push anymore and although I'm not in the middle of your situation in seeing it through your eyes and your description I could see that there is a battle plan that could work, which is what I was doing.  I honestly thing that by planning with Dr. Stelzle to hospitalize her the next time she acts up so that you can do some testing of her while in a crisis event will hopefully provide some real answers.  This is what I was envisioning and why I spoke strongly instead of coming at it with a milder form of Well, why don't you try...!!   There are times, Kim, when we parents and patients have to stand up to our doctors and say  I'VE HAD IT!!  WE NEED TO ATTACK THIS DIRECTLY NOW!   I've had to do this with my doctors too.  Sometimes they need to hear us, especially when we've proven to them that we're are indeed working with them and are trying to be patient, being understanding of their challenges and difficulties. So, please forgive me for not wording that better.  There was in now way any criticism intended, but just the strength of convictions that it's time to stop beating about this bush and take some definitive action.   You and I have spoken enough between the two of us for you to know that I believe in you and know that you're doing the very best you can in the midst of a very difficult situation!!   If I were Brie, I'd be rejoicing to have you as my mother - my hero fighting to help me! Now, about you doctor's situation...!  If what you are saying is true, that a pediatrician and a certified doctor has no authority whatsoever to hospitalize a patient whom he feels is seriously ill enough to need hospitalization and also does not have the right to be involved in that child's care while his patient is hospitalized then all I can honestly say to this Kim is that I'm thankful that I'm living in Brazil!    Your doctor has been defrocked and is now impotent before his obligations and responsibility as a physician!  In truth, he's no better and no more powerful than a nurse and that's shameful!   Please don't get me wrong, I'm not degrading nurses, I'm commenting upon the sad state our US medical system has gotten into by not allowing doctors to do their job as doctors and to fulfill their duties towards their patients!  This is very, very wrong and I'm honesty saddened to hear this news!!!  Shameful, truly shameful!   And what really irks me is that if our doctors are legally held responsible for the medical decisions they make for our care then they should have the right to be able to follow through for that patients care.  In not allowing him any hand in the hospitalization processes, he's had his hands tied behind his back and is worse than if he were merely just tied up - he's been incapacitated! The ONLY thing I can say to this, Kim, is that somehow your doctor has got to find a colleague within that hospital and convince him of the need not only for Brie to be hospitalized but that he must be involved in her care while in there.  Answers must be found that will not put Brie through a great deal of trauma!  Hospitalization is really the best means for this for they can then run some EEGs on her while she's in this hyper-somnolent state of hers.   As to that situation, Kim, Dr. Castells did say that some children will indeed sleep a lot when they are degranulating and having gone through some of this exhaustion myself, I understand it.  It's improved upon my being on singulair.   Yet, although this when it's at it's worst could be indeed anaphylaxis, don't go ruling it out just because you aren't seeing typical signs of it.  Kim, those of us who have severe cardiovascular reactions are known to jump over the typical signs and go straight into syncope of profound hypotension without the show!!  What makes it anaphylaxis, it's the mediator release behind it.  This is what the doctors are not comprehending.   I had one of my doctors argue this with me one day and when I told her this, about it being the mediator release behind the symptoms be what defines whether or not it's anaphylaxis, she just stared at me with a shocked face while she processed that information!   Then she fully agreed with me when she realized that this was the truth!   You are right, it's very hard for them, but this is what it is.   Oh, Kim, I wish I just know how to get you out of this impasse!!!  Has your doctor personally spoken with Dr. Castells yet?  If not, please ask him to call her!  He must have her help!!!  And I'm sure that he asks her to take Brie that she will.  She knows a tough case when she's heard one and I'm sure she'll take Brie!!!   Please ask him to do this! Well, Kim, please again, forgive me for being so strong.  I didn't mean to make you feel that I was coming down on you, it was not my intention at all!! :-*

Title: Re: My daughter's story Post by Kim on 02/17/11 at 12:54:55 Lisa Dear.... I never felt you or Deb were being "hard on me" or criticizing me in the least and I truly am thankful for all of the responses from you and others.   It has helped me time and time again to set new game plans, develop new ideas or ways of thinking, to grow in knowledge, and they have given me the courage to move on.   Your words, nor Debs, were not "too strong" at all.... They were words I would have said to someone had it not been me writing my last post about Brie.  It is always difficult to "read between the lines" when reading things in print for there is no way of knowing the other details or history behind what is written in print at that time or why people made the choices that they did at that time  That is the only reason I felt I needed to explain things in more detail.   So I am asking all of you to please continue to send me your views, input, knowledge, advice, etc and to not be afraid that I will be offended.  I NEED these things as they are what keeps my mind and energy in full gear for battle plan number ???? (probably like #33 at this point in time).       ::) As far as the Dr. situation it is a very sad ordeal.  It makes receiving proper care while in the hospital almost impossible!  I have heard of "nightmare" stories that have occurred with patients care because of this.  The saddest part of it Lisa is that it is not due to any new laws or anybody (other than the Dr.'s themself) enforcing this!  Yes.... you heard me right.... the Dr.'s themself have chosen this alternative way of care for their patients!  This started in our town about 2 years ago.  Apparently the Dr.'s are tired of their "long hours" and "lack of a family life" and they no longer want to provide around the clock care of their patients.  To offset this problem and lack of Dr.'s to make rounds on patients at the hospital the Hospital now hires  "Hospitalists."  They are the ones who have shifts at the hospital to round on all hospitalized patients.... so the patients Dr.'s who are the only ones who really know them can have "office hours and time with their family."  These Dr.'s have all suspended their admitting privileges and without these privileges they can not round on their patients when hospitalized.  This scares the bejeebers right out of me!  And that is why I take my kids to their local Dr.'s office whenever possible versus ER.                                                   I Love You All!   Kim

Title: Re: My daughter's story Post by Lisa on 02/17/11 at 13:15:24 THAT IS JUST SO WRONG!!!!   AND IT MAKES ME REALLY ANGRY!! >:(

Title: Re: My daughter's story Post by Lisa on 02/17/11 at 13:17:34 Kim, If I were you, I'd very seriously consider putting a for sale sign on your house and that of your mom's and MOVING!!   MOVE TO BOSTON!  I don't see any advantage for you in staying there and since you're a nurse, I'll bet you could get a job in the Boston area in a blink!!! MOVE, KIM!  GO EAST YOUNG WOMAN!!   GO EAST!

Title: Re: My daughter's story Post by Kim on 02/18/11 at 11:40:50 :D   I truly feel we are inching closer and closer to answers for Brieann.  She had her follow-up visit with her local Pediatrician today and he has spent a couple of weeks researching MCAD / Mastocytosis and following all of her issues closely over the last 2 months that she has been under the care of her local Allergist / Immunologist.   He now also feels that some type of Mast Cell Disorder "IS" her diagnosis.  He openly admits the limited knowledge of Dr.'s who do not specialize in this and has asked me to send him all of the contact information for Dr. Escribano, Dr. Akin and Dr. Castell's.   Brie sees a Pediatric Endocrinologist on Monday and then she has an Adrenal Stimulating Test scheduled for Wednesday.  He is going to await the outcome of this visit and test and then he is going to contact Brie's Immunologist and Endocrinologist and develop a plan.  He is then willing to contact a Mast Cell Specialist and ask them if they will see her, if they have any recommendations, if there are any further tests we should do and if we should change any of her medications.   So hopefully we will at least have some input from a Top Authority within a few weeks!!!  YIPPEE!!!                                                      Stay Well,  Kim

Title: Re: My daughter's story Post by Lisa on 02/18/11 at 12:34:27 HURRAY FOR DR. STELZE!!!!!!    HIP HIP HURRAY!!!!!   THAT MAN DESERVES A HUGE PAT ON THE BACK FOR KEEPING AN OPEN MIND AND RECOGNIZING THAT NOT ALL OF US FIT INTO THE SMALL BOX!!   YEAH!!!!! Kim, you tell him for us that WE ARE ALL VERY, VERY PLEASED to hear about his decisions and his hard work and that of finally recognizing that not all of us will react and fit into the small box that so many doctors want to put us into!!!   We so badly depend upon our doctors and if the are not OPEN MINDED, they will totally miss the boat and then we are stuck to either fend for ourselves or to totally give us and quit.    Thanks for not being a quitter, Kim, for your daughter has only had you to fight for her!!!   I can't tell you how pleased I am that you've been so constantly pushing and pushing and that finally it's paying off!   If you had not taking the time to finally get about researching her symptoms and pushing for understanding and coming to conclusions you would not have been able to present to her doctor the possibilities of a mast cell disorder.  Without that, the doctors would never have looked in this direction!   GOOD FOR YOU KIM!!!   YOU SHOULD BE PROUD OF YOURSELF!!    :)   I'm very, very proud of you and your doctor! So, thankfully he's recognized that he needs to rely upon the HEAVY ARTILLERY!   GREAT!   That's good for I think he's going to need the help and support of at least one of the three if not two of them for Brie is most definitely a tough case = as tough if not tougher than mind, Kim!!     Please keep us updated not only as to how this doctor situation develops but I want to know how she does with her tests please!!   Kim, now, I'm going to give you a piece of advice.   YOU NEED TO CELEBRATE THIS VICTORY WITH YOUR KIDS!!  Tomorrow, do something special to commemorate the victory.  I'd make a movie night as a way to celebrate - I'd break out a coke, make a ton of popcorn and get a movie that we all could enjoy together and then celebrate with some cupcakes or a cake.  Don't let this victory slip by for it's a landmark victory for you and especially Brie!!!

Title: Re: My daughter's story Post by Kim on 02/18/11 at 13:08:45 Lisa;     The news is even better than you realize... for this Dr. today was not Dr. Stelzle!  This was her new Pediatrician that Dr. Stelzle asked him for his help a month ago.  His name is Dr. Parys.     So not only does she have one local Dr. that believes Brie and I and also believes this to be her diagnosis.... but we now have TWO!!!!!!!! that are ready tp go to bat for her with the Specialists.                                                                         Kim

Title: Re: My daughter's story Post by Lisa on 02/18/11 at 14:13:35 :D  THIS IS JUST TREMENDOUS NEWS!!!!!!!!!!!!    :D   I just couldn't be more pleased!!!   Thanks so very much for making my day Kim, this is TERRIFIC!!!!!!!!!!!!!!!!!!!!!!!! :-*

Title: Re: My daughter's story Post by Kim on 02/21/11 at 16:10:22     As I think about typing this I am thinking.... Lisa is going to be both very happy AND very furious!!!   >:(       We love you Lisa and are so thankful we have found a friend such as you to "watch our back" with all of this!!!!   :-*     So, anyway, I am happy to say that we have been blessed with a 3rd wonderful local Dr.!!!!   I truly believe we are on the road for answers for Brie with her 3 latest WONDERFUL Dr.'s now helping us push through the mud to get to the next intersection!!!!!!!!!!     Brieann had a consult with a Pediatric Endocrinologist today.  We spent 2 hours with her!  I could tell she was VERY overwhelmed with all of the history and Brie's complicated case... and yet she hung in there trying to piece it all together and asking many pertinent questions and giving "point blank" input into some of the concerns (nice way of saying "incompetence or lack of concern") from Dr.'s along the way.....  She was not putting them down or "bashing" them in any way but very professionally stating her concerns about their lack of follow through, follow-up, etc.  She wasn't referring to their understandable lack of knowledge of rare diseases but their ability to "do tests and take a patients money when they knew from the start that their tests were not geared to Pediatrics and thus would not give adequate results and never referred us elsewhere in the beginning or after their tests failed to give us answers."  I greatly appreciated her honesty and concern for Brie's long standing issues and the results we have received thus far with all of the testing, etc.     Also, she is actually the VERY FIRST Dr. in 8 1/2 years that jumped on the concern of Brie's "small stature" and showed great concern for this.  Due to this and a multitude of other concerns she wants Brie to be seen by a Dr. who specializes in Metabolic Disease and/or a Geneticist.  Unfortunately we do not have any of these "specialty Dr.'s" any where close to us so this won't happen overnight.     She was concerned with Brie's documented history of Tachycardia, Hypoxia, episodes of barky/croupy cough without illness  and lethargy and will be contacting one of Brie's Dr.'s to get a Pulmonary Function tests scheduled.  She still believes that her heart murmur is benign - although her cardiac issues have not been worked up.  So I will continue to pursue this issue with others.   Lisa... this is where you... I know will provide me input  ;D   She is the Dr. who had an Adrenal Stimulating Test scheduled for Brie on Wed. 2/23.  These tests are typically done right in the office by her PA.  Needless to say that after our visit she canceled the test. She said that "Brie is way to labile to take a risk like this" and that she would not consider doing this test unless Brie can be hospitalized in an ICU for this test where proper medical treatment is readily available if things would not go well. Unfortunately our one and only Hospital has in the last few years hired "Hospitalist" to provide care for inpatients.  Most of these Dr.'s are foreign and have difficulty with our English language and NONE of them are trained in Pediatrics!!!!!!  And yet the Hospital recently notified this Pediatric Endocrinologist that their "Hospitalists" will provide care for her patients when hospitalized.  Needless to say she is very concerned and very irritated over this!  She deals with Pediatrics day in and day out and now she feels she has been "pushed out" of caring for her patients when they are hospitalized.  Not only are they "not pediatric trained but they (she believes) have no knowledge when it comes to very complicated cases such as Brie's.  She will not allow a Hospitalist to admit and care for Brie for this test and is going to contact Brie's Pediatrician and her Allergist / Immunologist in hopes that one of them still has privileges to admit and will ask them to assist us and follow her for this test.     She was so "flustered" over what we have been through, and the lack of answers we have, that she had difficulty even gathering her thoughts by the end of our 2 hour visit!  She will review several of Brie's records further and personally contact some of Brie's Dr,'s herself for further discussion and will get back to me in regards to further suggestions, tests and a follow-up visit with her.     I have a good feeling about the "Dynamic Trio" that I have termed these 3 caring and concerned Dr.'s and I feel they will do EVERYTHING in their power to help us find answers or to contact the "Top Authorities" for help with this.                                                                               Kim

Title: Re: My daughter's story Post by Kim on 02/21/11 at 17:30:10 I did not have the courage to ask this question until I Deb Mc has been describing the difficulties that her son deals with.  Thank you Deb!   For any of you with any type of "cognitive impairment" have you ever experienced anything that sounds close to "hallucinations?"   I know that many Dr's already feel that many of you are a "psychiatric case" from what your testimonies have described and I know that some of Brie's Dr's have probably felt the same of me.  I honestly can say that with some of Brie's symptoms over the last few months I truly worry that when I take her in to see them they will in turn call DSS and report me as a Munchhausen by Proxy case as many of her symptoms are so bizarre!   From the posts from this forum (or others) I have not come across many testimonials that relate to the psychiatric nature that may or may not be related to this disease so I realize that I may be opening up a can of worms here.... or maybe that this is such a rare occurrence. Also, it may be that this is such a "delicate" issue that people may not even be comfortable discussing this publicly and I have total respect for this. I am going to "step out on a limb here"..... Brieann has always been a "normal" child in development and such.  She is a very bright and intelligent girl who has struggled academically due to what appears to be "brain fog."  This has become MUCH MORE EXTREME since Oct. 2010 in which her teachers state she "can't stay focused, can't concentrate, "sits in a fog", and can't retain information she already knew or just learned."  We just got her on an IEP for this and hope that this helps. But my BIGGEST cognitive concern has been occurring since Dec 2010.  She has been displaying "irrational fears."  Normal kids of this age are often afraid of the dark, etc. and Brie has had these "normal" fears for the most part.  But since Dec 2010  her fears have escalated to daytime hours, etc.  It wasn't until shortly before Christmas of 2010 that she began to "hear noises" that others did not hear.  This escalated to the point that she began to periodically hear voices telling her "to come over here", etc.  She told me  that these voices were "Angels talking to her and that they watch over her."  Now in the last couple weeks she often hears "growls" "that are angry", etc. and that she feels "someone is following her and growling at her from behind."  She said tonight "I know that the devil can talk to us too and I feel that it is him."  Needless to say I am VERY concerned over this. I am aware that long term steroids can contribute to a type of psychosis and Brie has been on them now for 10 months.  We have tried 3 different times to get her off of these and have been unsuccessful.  Now that we have started Gastrocrom it is our hopes that this will be a successful medication for her and we can then wean her off the steroid.   I am truly concerned for her mental health and I am not sure if it is truly related to the steroid or possible neurological issues related to  Mast Cell Disorders.   I am asking any of you who have experienced any psychiatric symptoms to please let me know your experience.  I understand if you are not comfortable posting it for everyone to view and wonder if you would consider a "private message"... I would hold your confidentiality with the utmost respect! Thank you for any help or perspective with this issue.                                                       Kim

Title: Re: My daughter's story Post by Riverwn on 02/22/11 at 08:54:44 Hi Kim, I can only tell you about my own experiences and hope it gives your some insight for Brie. I have been "on" prednisone more than "off" for the last year because I frequently shock and end up back on it again.. (as I am now). I can tell you that I have heavy brain fog--when I am reacting OR if I dont take vistaril-it helps me trememdously. If I am reacting--it wont help--thats a huge clue for me to know Im building to a big reaction. Next thing is.. I fall asleep , in a deep sleep easily. The norm is about 1 1/2 hour for people to go into a deep REM cycle. Not me. I do it so easily my adult children laugh about it--because I also talk in my sleep LOL.. it will seem I am hallucinating but I am NOT.. Im dreaming thats all... My daughter tells me, "Mom you were laughing a the cat dancing on the hood of the car." I laughed and said, "Honey I was dreaming it, talking in my sleep and waking at the same time so the cat dancing suddenly on the hood of the car seemed normal to me  (transitioning to awake see?) I was NOT hallucinating... I was merely waking up from a deep sleep cycle to none...the cat dancing was "gone" instantly when I woke up... even though I was laughing over it for some time after that. Hey it was funny LOL. Now about those angels. That gets into religious beleif , not masto facts... and I have no right to direct you in that area... I will tell you again of my own experiences, yours to ignore or read. I too feel them around me and it is comforting to me.. I think Brie might mistake the growling noises as backround noise in the classroom with many voices at once--too much noise bothers me.. irritates me.  I would also say that this "fear" is probably related to her symptoms increasing and feeling her life is out of control... A childs version of a feeling of impending doom, normal when you know something is wrong but not exactly what it is. I would give her constant re-assurance that she is always safe, always protected by her angels and try not to let it be a big deal--hopefully it will pass...BUT... This is your baby though.. I would STILL let her Drs  know about this and make sure nothing new is going on.. cover ALL bases Kim. Hugs to you and Brie, Ramona

Title: Re: My daughter's story Post by Lisa on 02/22/11 at 09:57:30 Kim, you know how to get a response out of me!!!!!   I am ECSTACTIC!!!!!   And yes, insensed at the crime that is going on there!    But, at least your doctor is as incensed as I am and she has the right point of view over it all!!!!  She's been ROBBED of her rights as a doctor and they need to start threatening some law suits to regain their rights!  They've been relegated to being nothing more than nurses in truth and although that sounds rough and as though it's a put down, within the medical heirarchy we all know that the doctor is on the top of the pile and has the weight of the responsibility to go with it.  When they are deprived of their right to call the medical shots over their patients, they've been stripped of their ability to perform their jobs and have been relegated to being nothing more than office workers and that's a crime!  In truth, they are not doctors then and anybody can pretty much do their job!   How WONDERFUL and oh what a RELIEF that FINALLY! FINALLY! FINALLY!  SOMEONE IS SEEING IT BESIDES YOU AND BEST, DOING SOMETHING ABOUT IT!!!   That is a real answer to prayer and I'm very happy to hear it!! Keep at it, Kim, but I'm going to give you one piece of advice.  Now that you've got doctors on your side and fighting for Brie, ask that THEY find the other doctors she needs to see.  Have them call up their cardiologist and neurologist colleagues, etc, and get them to speak with those doctors FIRST asking those colleagues to open up a spot in their schedules to fit you in and see Brie.  This is really the very best thing and it will avoid taking Brie to a bunch of doctors who don't see it.   This is a techinique I've used once I began getting doctor support and boy does it work so much better than just going on your own.  It saves you a great deal of grief for the doctors who take you based upon a colleagues intervention don't question you as to whether or not something is wrong.  They already know that there is something wrong and they take you very seriously!!  They've had the situation explained and they are ready to deal with it, even if they don't right know what to do!! So, this is my suggestion.  See if this last woman doctor can do it for she's upset and incensed and this is great, she'll be very firm as to her convictions and this will make those doctors she speaks to determined to do what they can to support her. I'll be here praying and waiting to hear how it goes! Hugs to you and Brie!!! :-*

Title: Re: My daughter's story Post by chaco on 02/22/11 at 18:06:34 Kim, I am sorry to hear that your daughter may be having hallucinations.  Hearing noises, smelling odors or seeing things that are not really there are all forms of hallucinations.  It's not something to be ashamed of, though.  It's best this be addressed upfront like any other medical issue. I'd definately inform her docs of this behavior. From what I've read, reactions to drugs and other environmental triggers have been known to  cause hallucinations and other neuropsychiatric symptoms in folks w/systemic mastocytosis.   The doc who started my masto work-up wrote a paper called, "The Many Faces of Systemic Mastocytosis." In it, she mentions that some patients do present with neuropsychiatric symptoms.  I'll provide a link in case you'd like to read it. http://www.sonoranallergy.com/syst_mast.php Also, here's a link to the abstract of one article in particular that addresses organic psychosis as a complication of masto. http://www.annals.org/content/98/1/30.abstract A couple weeks ago, my son had an adverse reaction to a single dose of dye-free Benadryl, just 25 mg.  Within 10 minutes of taking it, he lost the ability to speak,  turned white as a ghost and started hearing voices.  The treating doc called this "cholingeric psychosis", and said it was brought on by hypersensitivity to diphenhydramine, the active ingredient in Benadryl.  My son is apparently intolerant of it.  Many "normal" people are as well.  One of the nurses taking care of me in recovery yesterday said she has seen quite a few patients go psychotic from a single dose of Benadryl, which used to be administered in the hospital there for pain as a safer, less sedating alternative to demeral.   The doc, btw, told me folks who are prone to cholingeric psychosis often have this same adverse reaction to oral steriods. Here's a link to an article on "Antihistamine Toxicity" that discusses some of the neuro-psychiatric effects and other symptoms. http://emedicine.medscape.com/article/812828-overview Brie is fortunate to have such a caring, intelligent and determined mother to represent her and advocate her needs.  Keep up the good work.   Deb Mc

Title: Re: My daughter's story Post by Kim on 02/23/11 at 05:40:30 Deb Mc;     Thank you for those links to the articles.  I can't wait to read them. I have recently searched the Internet for neurological affects of Masto/MCAD and have found little.  Lisa sent me a great article on this too.       I am not ashamed or embarrassed by this issue but know that some may be, or that others want this to be kept a private issue, and I was not sure how people would respond if I asked them for any of their personal experiences so I can better understand how this may be related to Masto/MCAD or medications used for these.     I have actually been a Psychiatric Nurse for 25 years and thus I am quite familiar with psychiatric issues/diseases.  And due to this I am very confused about what Brie has been reporting as she in no way has the "Typical" behaviors/affect/demeanor, etc as someone with a Psychiatric Illness.  She has experienced short, one time episodes, of hearing things about a dozen times in the last 2 months. It does not continue day to day or for the entire day, etc.     We actually went through a year from H____ about 6 years ago with my son (middle child) in which he experienced severe headaches, vomiting, stomachaches and severe periods of psychosis/hallucinations.  Every Dr. I took him to (except one - I fired him needless to say) agreed with me that he also did not have the "typical" features of a psychotic illness.  I fought for a year to try to find answers for him and low and behold his tonsils were 3+ (4 would mean they were touching) and his adenoids were so enlarged they were closed off!!!! And it took a YEAR for Dr's to find this! Thus.... he was SEVERELY oxygen deprived and THIS is what caused his symptoms.  He had his tonsils and adenoids removed and he has never had another problem with this from the day of his surgery! Brie had her tonsils and adenoids removed at 11 months of age (the youngest patient for this that our local Dr's and hospital has ever done! - yet another clue that something wasn't right from way back?!?!)  She has had x-rays done to rule out that they have not grown back so this is not the issue.     That is what makes me think that something else is "at play" here with Brie.  I initially thought that she was interpreting noises differently than they actually were (Example: Our animated / moving Christmas ornaments that we have had up every year since before she was even born have never scared her in the past but this year she would quickly startle, stop, turn around and look at them with a scared affect.  They do make a "clicking" sound when they move so I felt it was this sound being misinterpreted.  But she later told me she heard voices telling her to come over by them, etc).  She at times hears someone call her name (and it is just her and I here and she is close to me and can see that it was not me calling her).  There are a few others but they are also pretty non-specific.  I then felt that she was maybe having these as a response to the worsening of her symptoms over the last several months and that it was dealing with this that was causing her stress and anxiety (although she hides her stress and anxiety pretty well as she really doesn't seem to have much but I know it IS there).  I just comfort her and assure her that I will keep her safe and do everything that I can to help her.  It was "out of the blue" almost 2 weeks ago that she told me "I know it is guardian angels talking to me when I hear those voices as they watch over me."  This was her way of explaining the reason for what she is hearing and this was comforting to her (and me).  But since she told me that, she has had 3 occasions that terrify her as the voices are now "angry growls" "as if something is behind her and coming after her."  The last one occurred when her and I were alone walking down a long hall at my Mothers apartment building. That is when she told me that she "knows the devil can talk to us too and she thinks it is him." Due to the situations in which these have most recently occurred I do not feel they are a part of an overactive imagination or misinterpreting other sounds around her and I have started giving more "credit" to her reports of these.  Yes they could still be just related to stress and anxiety, or they could be a side affect from her medications or I question if they could be a symptom of Masto/MCAD with neurological affects.  There is little info out there on this and both Dr. Castell's and Dr. Escribano have confirmed that there is little research in this area and that is why I was looking into the personal experiences with this.     Thank you so much for your input and your links to further information!                              I Appreciate all of you!   Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 02/23/11 at 06:26:25 Hi. I cannot take benedryl -- it gives me a rash. LOL. However, I think that this is s very safe and useful med for most mast cell people and shoudl not be discounted. If the patient needing it has never had a bad reaction to it, then he or she should be fine with continuing to take it. If you have never tried it, I still wouldn't worry. Really, I think that Chaco's description is a rare occurrence of even a rare disease. So, I would never think twice about giving it to my child. Now, I, on the other hand, won't ever take it because my body is telling me that something in it is not right for me and, thus, I get a full body rash. Everyone is different....

Title: Re: My daughter's story Post by chaco on 02/23/11 at 06:41:43 Interesting, Kim!  I am seeing more and more similiarities between your daughter and my son, who's now 28. My son's tonsils and adenoids hypertrophied at a very early age, as well.  He was exceptionally bright and articulate yet suffered developmental regression from age 3 - 5 - didn't grow an inch or gain a pound during that time and to this date has short stature. Despite all his medical problems, my son made Nat'l Honor Society every year at the college prep academy he attended.  He graduated HS with 30 or 40 community credit hours and made Dean's honor roll there every semester as well.  He was awarded an academic scholarship to attend state university, based on his exceptional performance in HS, and was in his Junior year when his life came tumbling down and stopped.   According to his HS principal, my son was "a powerful writer and poet". He played on the school's basketball team, was active in computer club and played classical guitar, even composed his own original pieces.  He played beautifully! Sadly, my son now, at age 28, can't remember how to read music, let alone play it. He requires around the clock care and supervision due to severe cognitive deterioration. His memory is shot e.g. at times he cannot even remember his current phone# or address, albeit we've been here at this home for nearly 10 years.   Today, however, he's doing much better.  We cut back on his intake of meat to almost zilch and he's coming around, coming back to life again.  It's that dang histamine.  He had fresh chicken thighs, no additives or seasoning, last night as part of the elimination diet challenge and within minutes of eating the meat, he became nauseous and had onset of phlegm - a subtle but telling symptom that he's having a reaction to something.   Never stop turning over rocks.  Never give up hope.  Never say never. Deb Mc

Title: Re: My daughter's story Post by Riverwn on 02/23/11 at 06:51:30 Chaco, while I know your words are offered with love, I really have to take issue with some of the information that is presented here, because I think that that nurse led you in the wrong direction.  ANYTHING is possible, but it's not actually  probable.   I am left with serious concern that that nurse's advice will make people here will be afraid to take benadryl for reactions--and it could cause damage to allow a reaction to last longer , maybe even cost someone to go into shock. I know that you only intend the best, and so I wanted to point out to you the ways in which that nurse was a bit confused. While some people may react to buffers and fillers in medications , most dont react to the benadryl itself--just the form they took. Many people find a type that they can take easier--or even have medications specifically prepared for them by pharmacologists. Are there an odd few that are actually allergic to benadryl? Of course...but there are the exception to every rule, not the average person. I once had a patient who went into a coma after taking 2 tylenol.. is that the norm or the average?? No. Would I caution people not to take tylenol because of it? No. That patient was maybe the .01% exception and much more harm than good would have been caused by alarming a public that would not understand, someone can be allergic to drinking water! I also am concerned with the nurse's  statement that Benadryl is used for painkilling in replacement of Demerol. They are two drastically different types of medications that may be used together for certain events but are NOT interchangeable. I think that nurse was trying to make you feel better, but she shouldnt have "told tales" to accomplish it. I also want to calm your fears by letting you know that cholingeric psychosis is associated with overdose to a med--Lets say Benadryl in this situation. If your son only took 25 mg, it was certainly not an overdose situation but possible an allergic reaction. In this case the diagnosis of cholingeric psychosis, would have been wrong with a mere 25 mg taken. It sounds like your son had a VERY adverse reaction and that can cause a possible hallucination itself when the BP plummets too quickly and the patient is  in shock. I also believe strongly that Kim has not overdosed Brie on benadryl so this isnt the situation she is dealing with. While I do agree with you that long term steroids can cause a psychosis, that has to be measured against the reason FOR the steriods--which is the patient more in danger with? Im much more in danger of severe shocking than a psychosis--which would be easy to diagnose and reverse than a severe life threatening anaphylactic episode. That has to be assessed carefully in a health care setting by Drs. I totally agree that Kim is a WONDERFUL mother.. and would love to see positive information given to her for Bries sake. I just dont want to let any mis-information stand which however well meaning could cause problems for other members. Unfortunately, I think that nurse gave you incorrect information, and thus I hope you understand that I am writing simply to help both you, Brie, and anyone else reading this.  I also hope that you and your son are feeling better today and find the right doctor to care for you both. We want you both healthy and happy! With Love, Ramona

Title: Re: My daughter's story Post by Kim on 02/23/11 at 07:12:06 Deb MC;      I get tears in my eyes when I read about your son and all that he has gone through and continues to go through.  It is so not fair!!!  It seems like he was a "typical" kid with some warning signs that something wasn't right. Correct me if I am wrong but if I remember right he does not have a formal diagnosis of Masto/MCAD yet???  And to hear that his condition has progressed to this point and yet no Dr. has stepped in to help find answers and research his symptoms / history is appalling to me.  He is so lucky to have you!!!  And I know this has been very difficult on you and the stress alone has I'm sure compounded your medical issues too.  I will keep the two of you in my prayers and hope for better healthier days for the both of you.                                                       Blessings,      Kim

Title: Re: My daughter's story Post by chaco on 02/23/11 at 10:44:28 Ramona- I, in turn, take issue w/your know-it-all attitude and insensitivity. I did not say or imply that Benadryl or steroids are unsafe for anyone other than my son. You are the one that made that implication. FYI - The physician who dx'd my son w/cholingeric psychosis has been our PCP for 23 years now.  He's an M.D. wtih over 30 years of private practice underwing, andhe knows our medical hx very well.   As previously stated, my son and I have MCS, formally dx'd over 20 years ago.  We have severe and atypical reactions to seemingly otherwise benign environmental agents and certain chemicals at doses that do not outwardly affect the general population.  Both of us have lifelong drug intolerances. More specifically, we have had adverse reactions to practically every med - Rx, OTC and homeoathic - that we've tried or been given, anesthesia included. So 25 mg of Bendryl could in fact be an overdose for us. According to our doc, it was the anticholingeric effect of the active ingredient that caused the cholingeric psychosis in my son.  When your bucket is constantly full, it doesn't take much to overflow and become symptomatic.   Because of my long history of medically documented drug intolerances,  the order from my hematologist specified, "No pain meds or sedation".  After taking note of all the drugs I canNOT have, the receiving nurse at the hospital kindly offered me Benadryl as an option after pointing out that "bone marrow biopsies can be very painful."  I declined, commenting that my son had just had a bad reaction to Bendryl.  That's how our conversation on the "sedative and hallucinogenic properties" of Bendryl got started.   Conjecture and argue all you want, the facts of the matter remain factual.  You were not even there. Everyone is entitled to their own opinion.  I recognize and respect that. Sorry if my post upset you, that was not my intention.  I was simply sharing what I felt was pertinent information in response to a request from another member. Feeling picked on and offended, Deb Mc

Title: Re: My daughter's story Post by Starflower on 02/23/11 at 11:44:38 I'm going to add my two cents... - Some people (whether they have a mast cell disorder or not) are extremely sensitive to chemicals, foods, and environmental triggers - As far as I know, however, people with mast cell disorders are no more likely than "normal" people to fall into this category!  The same is true for IgE allergies.  Some "masto" patients have them, but many don't... no more than you would find in the general population. Every single one of us needs to be careful about generalizations... what works for me might not work for you.  Conversely, I might be able to take or eat something that would cause another person to have a severe reaction!  In all honesty, there are few "universal" triggers.  The worst ones seem to be alcohol, antibiotics, opiods, certain types of anesthetics, and stress/trauma.  Some things like estrogen and FceRI antibodies cause degranulation even in a test tube.  Otherwise... all bets are off the table.  Our reactions can be highly individual, which drives our doctors crazy ;) On a personal note... Ramona is one of our moderators.  I stand behind her 100%.  I saw nothing disrespectful in her post. Heather

Title: Re: My daughter's story Post by Kim on 02/23/11 at 12:55:10 First off I need to apologize to all... for it seems that I asked a question and for some input and this resulted in a conflict. This was in no way my intentions.  I think we all need to step back and take a deep breath!... and remember the guidelines that Deb (Our Founder) has provided for us (see below) Here are some guidelines for people to think about before posting.  (Not just the technical stuff, but the kind of tips that make an online forum a happier place to be.) 1. Think twice before writing an angry e-mail.  We're here for sharing and support, not criticism. 2.  Since we're all trying to educate ourselves, make it clear where your advice is coming from... is this something you've personally experienced, heard from your doctor, read about, etc...?  Links are great! 3.  Keep in mind that there are different kinds of mast cell disorders.  What works for you might not work for the next person. 4.  Be careful about sensitive topics like politics, religion, birth control, etc...  If you discuss them, be prepared for responses that are radically different from your point of view. 5.  There's no winner when it comes to mast cell disorders... avoid comparing who has it "worse" and dismissing people with experiences different from your own.    I think these guidelines say it all !!!!  I don't believe any of us are medical doctors, especially one that specializes in Masto/MCAD.  So everything we are told or given advice about WE need to take personal responsibility to follow this up, investigate the medical documentation, etc. before proceeding or applying it to our self or our loved one.       We need to remember that each and every person responds differently to this disease / disorder and the treatments for it.  We are all UNIQUE individuals. We also need to remember that some on this Forum do not have a diagnosis of Mast/MCAD and thus their symptoms may or may not "fit"... and that is what some, such as I, are trying to piece together and the only way to do this is by asking questions and researching.     We are all here to educate ourselves and each other in hopes for answers and or a diagnosis and proper or better treatment of the ailments one suffers.  Many of us on this Forum (Brieann included) does not have a diagnosis as of yet.  There are also many other diseases that  the symptoms can overlap and make it appear to be Masto/MCAD. Many of us are asking lots of questions and asking for feedback into what others experience so that we have something to compare our situation to.... in hopes that we will recognize if we are in the wrong place and need to head down a different path for answers.    When those of us who do not have a diagnosis list the symptoms or issues that we (or our loved one is dealing with) we are seeking advice as to if these may or may not be related from those who truly know the disease.  But also need to realize that whether they relate or not may or may not mean we do have this diagnosis... for we may never know until we are fortunate enough to meet with one of the Specialists.      We need to embrace this knowledge and the experiences that so many have.... but not to apply each and everything we hear to our self personally and to not be offended if someone disagrees with us.  If we don't keep an open mind as to the individuality of each person and their symptoms and treatment we will not continue to grow and learn from one another.  We also will not be able to decide if we truly are looking into the wrong diagnosis unless we fully understand this one and see if it truly relates to our issues.    I have found the support and feedback from members of this Forum invaluable and hate to see it degrade into conflicts.      Ok... I feel like I am repeating myself so I will end it here for now  :)                                                         Thanks,  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 02/23/11 at 13:18:46 I wonder if anyone has noticed that I have a habit of locking threads that depart from helpful to bickering?   Rules of the forum: if you feel that you have been spoken to rudely or insensitively, please bring it to my attention in a private message. Feel free to respond in a private message to the person, but please remain respectful and polite. Our forum is known as the "friendly forum" and I take strides to ensure that it remains that way and everyone feels comfortable posting. Now I will be specific: Deb, I can promise you that Ramona was absolutely not picking on you. She was very clear in her post that she felt that the nurse giving you advice was wrong. I, myself, would say that it is illogical for the nurse to offer benedryl as a painkiller. She might as well have offered m&ms because they would help as much in regard to painkillers. Unfortunately, you took it the wrong way, and I can say that I definitely do not want you to feel picked on or uncomfortable. We welcome all opinions and we are all bound to disagree, as is the nature of the forum. Yes, Ramona (and Lisa) are moderators of the forum, and I depend upon them to be my eyes and ears. I have asked them to make things clear if a post could ACCIDENTALLY lead some people to the wrong conclusion. They even go a step further and sometimes email me to ask my opinion before posting something. The reason is because they absolutely don't want to offend anyone, and I can tell you from the bottom of my heart that if you felt Ramona was attacking you, she was not at all. I can also say that I know we are all only human and any of us, including me, can make errors in the conclusions we draw. Everything written is subjective, and it doesn't mean that any of us are right. Trust me, every now and then you will see me and Lisa on opposite sides, debating each other and bluntly saying each other is wrong. Yet, we know that while we disagree, it is purely subjective and nothing personal. Okay, so everyone be nice and behave, or my fingers will start reaching for the lock button.  ;)

Title: Re: My daughter's story Post by DeborahW, Founder on 02/23/11 at 13:21:16 PS: Thanks, Kim! Your post was perfect in helping keep the peace! Love it! [smiley=dankk2.gif]

Title: Re: My daughter's story Post by ruth on 02/23/11 at 13:56:41 As a relative newbie to this forum and to mast cell disorders I don't often feel I can contribute to discussions, but learn so much every time I come online and read posts.  But I am dipping into this discussion, because what we can learn from this one is beyond the medical aspects of one disorder. Maybe nothing new to say from what the previous few women have expressed so eloquently and clearly, but I will add just a couple of things.  The whole phenomena of online communities and forums such as this is a whole different way of relating, I'm sure there must be a PhD to be had in analysing the psychology of online interactions certainly much for us all to learn.   Most importantly what strikes me from following this discussion is how much time and emotional energy is given so generously, and with the most genuine intentions by Deb and the moderators to make this the fantastic forum and venue of support that it is. When they respond they are addressing not only the individual making a comment, but mindful of the reactions and needs of the whole virtual community of unknown faces that may read the posts, and doing that extremely well.   We as members of a forum are likely to be thinking only of our own perspective, which is natural, but it is very clear that the moderators and more experienced members are very careful to be thinking beyond the needs of any one individual, themselves included, to be looking out for the whole spectrum of 'readers'.     I think that we as members can at least try to respect that, be very careful about how we conduct ourselves, and at least make the effort to read and re-read responses to seek to understand the bigger context.  The least we can do is to be mindful of  the guidelines that have been so well set out, and the general principle of expressing and explaining your opinion and knowledge, even if it differs from another, or if you have been misunderstood, without making any personal attack in the process. You can confidently express and explain your own feelings and motives, but not those of others, and phrases like know-it-all have no place in a forum like this.  In everything we post we all have a responsibility to consider the effect our words will have, directly on the person to whom it might be addressed, and more broadly on any person reading it.  A heated discussion like this can impact hugely on any person who reads it, and can undermine the tremendous efforts made by those who take responsibility here.  We all need to take responsibility for the way we impact on others. The most important thing I want to say is another huge thank you to Deb, the moderators and the members who heavily contribute to this forum wisely and generously. Many people are eternally grateful. Ruth

Title: Re: My daughter's story Post by chaco on 02/23/11 at 14:01:29 Kim, Thanks for the kind words.  Masto is about the only thing my son hasn't been worked up for. <g>  We've ruled out pheo, porphyrias, 175 different genetic disorders.   His primary Dx is EDS and MCS; all the other conditions and disorders he's been dx'd with pretty much go unexplained. But many of those "symtpoms" match or overlap w/those of masto.  His consult w/the immunologist is this coming Monday.   Starflower wrote on 02/23/11 at 11:44:38: I'm going to add my two cents... - Some people (whether they have a mast cell disorder or not) are extremely sensitive to chemicals, foods, and environmental triggers - As far as I know, however, people with mast cell disorders are no more likely than "normal" people to fall into this category! Heather If true, then that means less than 2 out of every 10 masto patients shows any degree of sensitivity to drugs, foods or other environmental agents.   Doesn't sound right to me.   Does it to you? Deborah - Actually, I have to give that hospital and the nurse, in particular, a thumbs up for being so accommodating of my MCS and EDS.  You would be surprised how discriminatory some establishments and even health care facilities still are are when it comes to accommodating invisible disabilities.   They were just trying to make me comfortable, I can appreciate that. Of the 4 nurses caring for me, only 1 had heard of EDS before me.  She looked up info on it to provide the radiologist doing the procedure, so he would be aware of some of the potential surgical complications.  They were remarkably accommodating when I had my liver biopsy, too. Overall, I have to say I was impressed by this hospital and its staff as, IME, that level of care and concern is not the norm, although IMO it should be. We are all different.  Everyone's biochemistry is unique.  And NutrEval is a good tool for assessing that. :) Deb Mc

Title: Re: My daughter's story Post by Kim on 02/23/11 at 14:18:33 Ruth;    So ELEQUENTLY put!  I wish I could put things into words as you do as you said everything I wanted to... but didn't have the right words  :)     THANK YOU for your post!!!                                                              Kim

Title: Re: My daughter's story Post by Kim on 02/23/11 at 14:42:07     One more thing... I LOVE this forum and have truly learned more here than anything Google can provide me... and even more importantly.... I truly feel a BOND to some on this Forum and would be lost without that!!!!  It is almost like one big family!        Sometimes it is so hard to read between the lines of what one "types."  Lets ask for further details and clarifications before we jump to conclusions.  I know there has been at least once that I feel that my post was misinterpreted - and this was my own fault as I did not provide enough details to the situation.  And I am sure that my response sounded as if I felt attacked... the reality was that I did not feel attacked per say... but knew that I needed to provide further details to make my situation more clear to others.     A healthy family works together... and I believe this would apply to a healthy forum also  ;D    So lets continue to support one another through our down times, and our up times and the in between.  I know this has gotten me through these last several months and I am sure many would agree that it has gotten them through the discouraging times too.    I have been on other forums and they IN NO WAY compare to this one!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!     We are human and we will disagree and maybe even "banter" with one another.  But maybe this should be dealt with in PM's versus public posts.      I know that nobody means intentional harm and we all need to keep the perspective on this.  We are all here for the same purpose (to educate ourself, find answers, give support, provide personal testimonies, and provide education to others - although I am not at a point yet for this as I am still in the stage of absorbing the inforamtion and finding answers myself).     To sum it up I need to say that we all really need to "AGREE TO DISAGREE".  And if something is "blatently misquoated" and backed by medical research then that can be used to educate ALL of us.  The idea of adding "links" for information is invaluable!                                                               Blessings to all,  Kim

Title: Re: My daughter's story Post by Lisa on 02/23/11 at 15:15:36 Ruth, that was beautifully said and thank you for saying it for this needed saying. Kim, your post was fine and it was NOT misinterpreted at all!!  You don't need to feel responsible for this.   What we have going on her is NOT a mudslinging ugly fight going on and nobody is being personally attacked.  Like Debbie, I did not feel that Ramona was disrespectful and Deb Mc, I'm sorry that you took it that way.   I must say this, however,  as one of the moderators, I have a commitment and a responsibility not only to Deborah in that I will be here, but also to the other members of this forum in that I am here for them and will do my best to help when I possibly can.  I know for a fact that Ramona also has this same attitude.  Deborah began this forum with the desire to find a home for other patients so that it was safe from being attacked or belittled and be a place where not only could members freely ask questions and seek for help but also to help others in their experiences.  In order to maintain this atmosphere it's important that not only the members respect one another but this is doubly so amongst the leadership of this forum for not only do we set the tone, but we also have a responsibility in what we say due to the influences that we may have on others.   As one of the moderators here I feel very strongly the heavy burden of responsibility for what I say in regards to this disease.  I know that my opinions can and will influence others and could possibly be dangerous, which is why I encourage that each patient seek out their doctors and when we speak about medications even if I won't say this each and every time it is with the expectancy that the patient is going to be wise enough to speak with their doctors about this in spite of the fact that we are talking about over the counter drugs.  I, myself, don't make a single move without doctors supervision and I have their email addresses and I'm in constant contact with them also updating them to every move I make.  I am also constantly questioning them and asking for their opinions because I know that I'm only a mere patient and that I must have their oversight to help me do what I do.   Many times I have spoken with my various doctors asking them for their input or opinion as to helping other patients here and I've often quoted what they have said to me.  It is almost daily that I will also leave a link as to where I have gotten my information so that it's not just "me" talking.  It is not lightly that I will openly disagree or contradict another person here for I'm all too aware that I am also just a patient.  I know that with Ramona's years of experience as a hospital nurse, she's all too well aware as well of the dangers that patients are in with living with this disease as well as the weight of responsibility there is in working with other patients.  So I know that if she felt that there was a need to step in, she did not do so lightly, just as I and Deborah also do not do so lightly.  Although not one of us is a doctor, there is doctor support behind us as well as a lot of study.  We do this occaisionally when there is a need to in thinking of the forum as a whole, and never as on a personal basis and never in a sense of personally attacking anyone.   Deb Mc I'm sorry if you feel that you feel offended.  I know for a fact that Ramona did not personally single you out, of this I am certain.  She didn't do this any more than I did in my statement about "constipation brain".  Both of these situations are examples of where the information goes against that of the established literature on mastocytosis as well as that of the authorities.  Dr. Castells had recently answered a question of one of her patients who is a member of the forum regarding the use of benedryl and it's safety for us masto patients, so this is a topic which was recently hashed out on the forum.  And, I have also seen that Dr. Castells in dealing with a patient on the TMS site had said that that patients doctors that if the patient was not responding to antihistamines and could not tolerate antihistamines that this indicated that the patient was not a mast cell disorder patient, and it was presumed that the patient had some other kind of disorder that was instead mimicking a mast cell disorder. So, although you felt singled out, for which I am sorry, for in truth you were not.  We would not do this to the members here for this would go totally against our very motive for being part of the leadership of this forum.  Besides that, Deborah would not tolerate it for one moment! Now, as one of the moderators of this forum I think that this conversation has come to its full conclusion and I would like to recommend that we have no more comments either for or against this topic again.  I do not want to close this thread nor do I want to ask Deborah to close it for this thread belongs to Kim and her daughter and I think that it's appropriate that it remains open so that Kim can continue telling her story as to her dealings with Brie's diagnosis.   I would ask that all of our members please refrain from making any more comments or remarks concerning this last discussion here and that we all close the door on this subject and SLEEP on it since it's already evening and time to say good night.   If anyone should feel the need to talk about this subject, and I mean anyone, please feel free to PM me and I'll be more than happy to talk with you about this.  Even if you are upset and disagree with me, that's fine, I'm not going to get all up in a huff over it all and we can work this out respectfully amongst ourselves.   But I would really hate to see that Kim's thread here about Brie closed due to the fact that my calling a halt to this conversation here was not respected. So, please, I ask you kindly ONE AND ALL,  No more comments.  Everything has been said that can be said without this digressing into out and out nastiness.   It's time to say Good Night! Thank you! Lisa

Title: Re: My daughter's story Post by DeborahW, Founder on 02/24/11 at 04:03:48 Kim, I just wanted you to know that I emailed Dr. Akin for you today. I'll let you know what he says and if he thinks he could be of assistance! :)

Title: Re: My daughter's story Post by Kim on 02/24/11 at 12:37:40 Deb;     Thank you so VERY MUCH!  I really appreciate you going above and beyond to help find answers for Brieann.  I truly feel we have enough details and documentation of her symptoms and have ruled out so many different possibilities and performed so many different tests on her that we are getting closer to having a solid case to present to a Specialist and hear their interpretation of her situation.  Sometimes it takes more than one person to get that door to budge open and I am glad for your help with this!  You are a tremendous and caring person and I greatly appreciate all that you do!                                                     Stay Well,  Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 02/24/11 at 14:27:52 My pleasure. I didn't get a response today, though, and that is not a good sign. Keep you posted.

Title: Re: My daughter's story Post by Kim on 02/24/11 at 15:13:40 I understand Deb.... and it is not your fault if we do not get a response. As I have explained I have tried several times to get both Dr. Akin and Dr. Castell's to help us find answers with Brie and the response has been discouraging.  Dr. Escribano on the other hand seemed quite concerned and even contacted Dr. Castell's himself.  That was the most confusing for me when she didn't offer to see Brie.   The only way that I can look at it is that they see her as a "child" and we all know that the children usually have less severe cases and symptoms and usually have only the cutaneous form and usually outgrow it by puberty.  Thus I think they do not get as worked up about it as I do. I wish I could get them to understand that she does not have the "typical UP" and her symptoms truly appear systemic.  And regardless of whether or not she outgrows it at puberty she is currently only 8 years old.... and has dealt with this DAILY for almost 3 years now and it affects her life on a daily basis.  Puberty is a long way off and to ask someone to continue to deal with this every day of their life for another several years - if in fact they can help lessen her symptoms and increase her quality of life - seems so unfair to me.  Her symptoms have actually PROGRESSED over the last 1 - 2 years, over the last several months for sure.... Ok..... I will stop.... I am hearing my own negative frustration and I do my best day to day to steer clear of this as this doesn't help Brie or I.  I have to continue to think positive and to push forward in every way I can.  Although it is a slow process I have belief that the answers will come... maybe not when and with whom I want them from but I have to accept that and think positive thoughts... positive thoughts... positive thoughts.....  ::)                                                                        Kim

Title: Re: My daughter's story Post by Lisa on 02/24/11 at 20:41:01 Kim, I can promise you, this is the most agonizing stage of being ill with a disease, that of getting a diagnosis.  It's hard because our minds are not prepared with being chronically ill with something rare!   You really are almost there!  Dont'lose it yet, Dear!!! Hugs!  and HANG IN THERE!!   Lisa

Title: Re: My daughter's story Post by Riverwn on 02/25/11 at 09:07:28 Kim, I have a suggestion?? Give the contact info (email) to Bries doctor. iF he will email Dr Akins you have a better chance of an answer--because of "professional courtesy" between doctors.. They will always answer a doctor before they do a patient..you know how that goes LOL.. Good luck hon. Hugs, Ramona

Title: Re: My daughter's story Post by Kim on 02/25/11 at 13:00:09 Ramona;    I actually have offered the contact information for Dr. Akin, Dr. Castell's and Dr. Escribano quite a few times now.  One of her Dr.'s said he would take it after he finished ruling out some other things first.  Then last week her new Pediatrician DID accept it the information.  He wanted to hear the outcome of the Endocrinology Consult first and then said he would contact them.  I truly believe one of them will make the contact... it is just a matter of when and I need to be patient.                                                          Kim

Title: Re: My daughter's story Post by Kim on 02/25/11 at 13:22:01 One other update.... Brie's Pediatric Endocrinologists called me today.  She has spoken directly to her Pediatrician and Allergist / Immunologist and they all concur that Brie is to "unstable" to put through the Adrenal Stimulating Test at this point.  They fear she may have a negative response (reaction of some sort) and are concerned as to what this may be.  I do appreciate their concern and caution  and I am exstatic that SOMEONE (besides me) is finally seeing and believing how unstable her symptoms are! They are going to take a more catious route.  They have ordered about 13 different labs that range from the "basics", to hormones, growth factors and Chromosome testing.  They need to get the Chromosome testing approved through Insurance 1st as I guess it is quite expensive.  She will then have to go in early one day (before 7AM) to have these done during the "Peak Level" times for these. Depending on what these show will determine whether or not they feel it's necessary to take the risk for the Stimulation test. They are also going to have a Pulmonary Function test done and have a Metabolic Specialist Consult and see Brieann.  The Endocrinologist is going to follow her growth and possibly start growth hormones on her. So.... although I am sure this will all slow down their contacts with the Mast Cell Specialists, I am thankful that they are taking things seriously and ruling out every possibility - this will only strengthen the case that they can present to the Specialists.  Also it comforts me to know that there IS NOTHING ELSE WRONG with Brie.  It will put that question that is always in the back of my head to rest  ;)  I am also VERY happy that my concerns for her abnormally small stature are being addressed after 8 years of me brining it up to every doctor at every visit Brie has ever had!                                                           Stay Well, Kim

Title: Re: My daughter's story Post by ruth on 02/25/11 at 14:14:54 Kim that is such good news to finally have doctors taking this seriously and going in a direction that will actually bring some answers. It must be a huge relief to feel that you aren't on your own trying to care for your daughter, the responsibility for finding the answers and making the decisions is being shared by people who are taking it as seriously as is required.  It's been such a struggle to this point but whatever is ahead will be manageable with the support and knowledge these specialist are now giving you both, and with the weight of the repsonsibility for the medical challenges being shared rather than carried by you alone, as you have done for so long.  You have done a remarkable job of staying strong and focussed, and patient through it all while watching your child suffering.  You are an inspiration.         Ruth

Title: Re: My daughter's story Post by Kim on 02/25/11 at 14:37:12 Ruth;      Thank you for your kinds words and support.  I need to be honest though in saying that the courage and strength that I have was not there a few months ago... I was beat down, worried sick and frustrated and felt I had been doing nothing but beat my head on a brick wall!  I tried and tried to get Dr.'s to help us and they all said that "they knew there was something going on with Brie but that they didn't know what" and that was as far as I would get for none of them wanted to take on such a time consuming complex case and to commit themself to the time that it would take. It was then that I found this forum and I can honestly say that if it was not for the education here, and most importantly the support, encouragement and guidance to keep me pushing forward we would not be where we are today!!!  I truly credit each and every one of you for this!!!!  It means more to me than words can ever express - THANK YOU!!!!                                                                          Kim

Title: Re: My daughter's story Post by ruth on 02/26/11 at 01:40:19 It is quite amazing to see the power of a community such as this.  But it still took the courage and persistence to look in a new place when  you were beaten down by it all Kim, and I'm so glad you did. Ruth

Title: Re: My daughter's story Post by Riverwn on 02/26/11 at 14:45:57 Kim I am sooo glad you finally have a great team there for both of you to lean on, things are turning around! Much love, Ramona

Title: Re: My daughter's story Post by Kim on 03/01/11 at 16:45:43 FINALLY a great move from one of Brie's Dr.!!!  I just received an email from her Pediatrician and he said that he has emailed Dr. Castell's about Brieann and is awaiting a reply  :-*....   God I hope we get one this time!!!                                                                        Kim

Title: Re: My daughter's story Post by Lisa on 03/01/11 at 22:05:47 HALLELUJAH!!!!!!!!   THAT IS THE NEWS I'VE BEEN AWAITING FOR WAY TOOO LONG!!!!!!!  YIPEEEEEE!   You made my day Kim!!  Thanks! [smiley=2vrolijk_08.gif]

Title: Re: My daughter's story Post by Kim on 03/08/11 at 17:13:01 I have been away from the forum for awhile due to many stressors last week (lost a friend in a snowmobile accident; found out my sister may have breast cancer; found out an x-sister in law I was very close to has stage 4 brain cancer; and another x-sister in law that was a close member of our family for 22 years lost her significant other and 3 year old son in a house fire)... all of this occurred within 4 days.... So I don't have much brain function at this point to even type this but just wanted to tell you some GOOD news.... Brie may be going to Boston to see Dr. Castell's after all.  Her Pediatrician just forwarded an email to me that he received from Dr. Castell's and in it she states "I will be happy to see her in consultation"... there are a couple of phone numbers I need to try to call tomorrow to get a registration number prior to getting an appointment so I will see where this gets me.                                                             Stay well,  Kim

Title: Re: My daughter's story Post by Joan on 03/08/11 at 17:37:51 Omigosh, Kim, it sounds like things have been beyond hard for you, and I'm so sorry to hear all that's been happening!  Hope Brie and you can get some answers from Dr. Castells and that it will be a great help in getting Brie well.

Title: Re: My daughter's story Post by ruth on 03/08/11 at 17:56:56 Oh Kim I am so sorry to hear what you are going through, there are no words for times like these, that no one person should have to bear all at once.  But the good news from Dr Castells is fanastic, one ray of sunshine in a very gray week. Ruth

Title: Re: My daughter's story Post by Lisa on 03/09/11 at 00:05:13 Kim, I am really sorry to hear of the tragedies that are happening in your life right now.  Those are really devastating blows and I'm sorry they've all come at once!  Hard to swallow on a normal basis, but one on top of the other, yes, it is shocking to the brain and emotions!  I'm sorry! On the other hand, what terrific news and what a tremendous burden that takes off of you!  Your hard work and insisting with everything is paying off finally!  And because you held on tight, insisting and standing firm in your convictions, your doctors have finally caught your vision and this is PERFECT!   I couldn't be happier for Brie!!! Now, we need to keep our feet on the ground for remember, this is a rare disease and some of us are even more unusual than the others and even though you can't go any higher up than Dr. Castells, she still doesn't know it all and you may come home from seeing her still wondering what some things are and how to deal with them.  She will do her very best for Brie, that much I'm certain.  How much she'll be able to uncover and treat is another thing and it may take time to get it all sorted out.  But with your doctors following her lead, you will see, the treatment will be much improved and Brie will begin to improve.   I hope you can get an appointment soon, or during the summer when it won't cause your kids or Brie any difficulties with school and homework.  Yet, I 'm really pleased to hear this good news!   This is great!!! Hooray for Kim!!!  Hooray for Brie!!!  Hooray for Brie's smart doctors!!!! and Hooray for Dr. Castells!!!!   :D

Title: Re: My daughter's story Post by Josie on 03/09/11 at 01:15:47 Hi Kim and Brie , I am so sorry to hear of your losses xx hugs x millions . Regards Brie's doctors I am so pleased :-) Well done kim for pushing .  :D josie xxxxxxxxxxxxxxxxxxxxxx

Title: Re: My daughter's story Post by Kim on 03/09/11 at 05:59:31 Thanks everyone for your words of comfort during these trying times for our family.... we greatly appreciate each and every one of you! Brieann has an appointment to see to see Dr. Castell's on Tuesday June 28th !!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!   ;D                                                                      Kim

Title: Re: My daughter's story Post by Lisa on 03/09/11 at 07:45:58 [smiley=2vrolijk_08.gif] [smiley=2vrolijk_08.gif] [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif] WHOO HOOOOOEEEE!!! [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif] [smiley=2vrolijk_08.gif] [smiley=2vrolijk_08.gif]

Title: Re: My daughter's story Post by Riverwn on 03/10/11 at 20:15:17 I am sooo happy for you and Brie, Kim!!!! My prayers for your family. Love Ramona

Title: Re: My daughter's story Post by Kim on 03/21/11 at 15:58:26 We got back Brie's latest lab results today.  Her Growth Hormones, Chromosomes and ACTH are all within normal limits but her Cortisol levels are a little bit low.   Soooo... the Dr. has decided to do the Adrenal Stimulating Test after all.  Any input you all can give me on preparation, etc. for this test would be so greatly appreciated!   This Dr. is Brie's Endocrenologist and she is the one who feels Brie is too unstable to do the test on an outpatient basis and thus wants her hospitalized for this test to be done.  The biggest problem with this is that this Dr. can no longer admit patients to the hospital as the "Hospitalists" have taken over the patient care in our hospital.  None of the Hospitalists are pediatricians and she does not believe that they have experience with rare diseases either.   The Endocrenologist is going to talk with her Pediatrician to see if he is comfortable doing this test with a hospital admission.  But I do not know if he has ever done this test before and he is just now educating himself about Mast Cell Disease..... so this is all a bit scary. There is one place in town that does these tests.... but refuse to do them on children. Another option is for us to again travel long distance to another hospital (7-9 hours) to have this done.  I told Brie's Dr. that this is probably my 1st choice but asked her to first speak to her Pediatrican and get a feel for how knowledgable he is with this test and what to do if a crisis would arise.  We will make the decision together after they speak. So now I sit here and question... Does she have an Adrenal Disorder causing all of her issues?.... Does she have MCAD AND a possible Adrenal issue?.... Although her Dr.'s have repeatedly tried to reassure me that the Entocort / Steroid she has been on long term has little to no effect systemically and will not cause this - I wonder again how accurate they are as the steroid does in fact help decrease her systemic symptoms.... And maybe there is no need to worry about this at all since it is not severly low and her TSH, ACTH, etc. have all been normal?                                                                         Kim

Title: Re: My daughter's story Post by Lisa on 03/21/11 at 16:15:54 Oh, Kim... so many worries, so many concerns, so many doubts and so many difficulties!!   This is one, my dear, where I honestly think you have got to take a bit of a back seat and let your doctors be the doctors and trust them that they know what they are doing.  You've finally got yourself a team who are aggressively doing what they can and must for Brie and I feel certain that they are not going to let the ball fall anymore!   They're not going to relinquish their responsibilities to another doctor unless they're certain that the doctor can handle it.  And they aren't going to stop supporting the one who takes over either!   I'm certain that you'll have the other doctor right there on the phone wanting to know everything thing happening as it's going on if the pediatrician steps in!!   The ONLY thing that they could do to help with this is to call Dr. Castells and ask her advice on this and as to whether there is something extra that they need to do to care for her with this test.   Otherwise, I think they're going to make sure that all their Ts are crossed and I's are dotted!!! So, Kim, although you can't fully relinquish your control and just let them have a hey day with Brie, I do think that this time you've got to let go and let them be the doctors here while we all keep in prayer for her!!! I'm here - standing with you!!!!!   I know the others are too!!! So, be at peace!  This is what you've been working so very hard to achieve - now let them do their work without being too afraid for OUR GIRL! Hugs to you, my friend, at this trying time!! Lisa

Title: Re: My daughter's story Post by Starflower on 03/22/11 at 00:06:25 Hi Kim, Is this the "ACTH stim" test you're talking about?  I had one a couple of years ago and it was a piece of cake.   Heather

Title: Re: My daughter's story Post by Josie on 03/22/11 at 05:18:40 Hi Kim :-) I agree with Lisa but also sense you concern so wanted to share my experience of this with you ;-) My adrenals are still off on holiday and doing very little . Low cortisol is termed addisons . Addisions can be primary or secondery . Primary is due to an autoimmune attack on the adrenals . The antibodies for this can be tested for . Steriods and other hormones can be replaced at levels the same as the body makes with no side effects of high levels commonly experienced . Secondery is due to several reasons . Long term high dose steriods over greater than 2 yrs . It can also be because the pituatry is not signaling properly . The docs will ahve tested brie's pituatry stimulation . So now they are going to give an artifical form of adrenal stimulant - ACTH . In the UK this is called a short snachten test . I ahve had 2 of these . It is , here , an injection of ACTH into muscule , a baseline cortisol (9am ) when it is normally released in the morning . Then 3-4 more samples at half hour intervals . This is an inpatient procedure here ;-) for anyone not only children . The ACTH should stimulate the adrenals to create cortisol . The 2 I ahve had made me a little nausated , but otherwise it was absolutely fine . My first was in may09 , when my cortisol was NIL , but by the time they did the test it had sorted itself out . I had been on steriods full time , 25mg a day ( natural level 5mg a day of prednisalone for adult ) for 6 weeks . They were reduced slowly but my adrenals took a little time My next one was may 10 . I had been on steriods again 25mg a day since august 09 -9 months . They were reduced and at 10mg I began bursting into tears for no reason . My cortisol was again nil and the ACTH test showed they were off on holiday . ( secondery addisions )This can be tempory or permenant . I was put on a very slow reducing regiemn . Dr Grattan , masto specalist here in the UK , felt I had not been on steriods long enough to have this effect. ( secondery addisions ). he suspected this was also the source of my angiodeama . My compliment level C3 was also high which indicates lots of inflammation . So he tested me for autoimmune (primary addisions ) but I came out negative . My 9am cortisol remains nil , so I am now on replacement steriods daily which is suffiecent to replace my natural level . I have no stress response , which in ill health - viral , bacterial infection , means thet I do not produce enough steriod for that situation . So I get very sleepy ( unable to keep my eyes open ) and teary when a cold etc is starting . When this happens I double my steriod dose and this gives my body enough to work with with its incresed demands . So your encrinoogist is doing the right thing checking this to see if Brie's low adrenal response=low cortisol is due to them not reacting to stimulation . As it takes years of very high dose steriods to knock out the adrenals by this route . he knows this and is not blaming this problem on an unlikely cause . Brie may be responding so well to LOW dose steriods as her body has not been making enough , especially when she has an extra like an infection anywhere or very busy days . Primary addisions is normally coupled with salt changes esp sodium low , but mine have been absolutely fine . This was why it took an endocrinologist to spot my problem as I wasn't being obvious about my addisions I am the exception that proves the rule . idiopathic addisions xxxxxxxxxxxxxxxxxxxxxxxxxxxxxxxx Once my steriods were replaced at a natural level I woke up spontaniously and stopped bursting into tears when i was not sad or depressed . I have 2 monthly 9 am cortisols off my steriod dose , to see if my adrenals are working . So far the remain on holiday . I know I have an infection long before I am symptomatic as I can't stay awake . i awake take my steriods and wake up properly 1-2 hours later  . I hope this helps :-) Josie

Title: Re: My daughter's story Post by Kim on 03/23/11 at 14:37:28 Thanks ladies for your posts.   Heather it is the ACTH Stimulating test that she will need. Josie, thanks for sharing all of that information.  It was very helpful.  Bire has tested negative for autoimmune disease (much to my surprise as we have a lot of it in the family).  Can Addison's Disease in any way related to Mast cell disease?  As far as steroids Brie has been on Entocort EC for 11 months now.  She was started on this for her GI symptoms and it did drastically reduced these symptoms, along with many others.  Although they tell me it is 60% absorbed in the GI tract and has little to no affect systemically.  She is also on a fairly low dose of this med.  So... if it is not from the steroid and she doesn't have an autoimmune disease this only adds more questions.... In researching the symptoms of Addisons... many overlap with MCAD... so now I am even more confused about her situation.  Also some of her symptoms started at birth or shortly after.  But others didn't start till 3 years ago.  And some of her symptoms do not seem to fit Addison's Disease.   She started with stomach problems at birth and wheal and flare hives at 6 weeks of age.  She then had the Flushing for a few years.  Then 3 years ago she started with the barkey / croupy cough (without illness) and then a month later the stomachaches and headaches on a daily basis.  Then the Neutrophilic Eccrine Hidradenitis episodes began.  One and a half years later she went into the Metabolic Acidosis (with no known cause) and a week after that she started with the DAILY outbreaks of hives / rashes / ect. Now she has the bone pain and this can be anywhere in her body (mostly the back as of recently). Does this sound like Addison's????  MCAD???  I guess we will have to await the ACTH Stimulation test and then our consult with Dr. Castell's..... I need patience   :-?                                                                     Stay Well,    Kim

Title: Re: My daughter's story Post by ruth on 03/23/11 at 14:59:26 Hi Kim, I feel for you, but as Lisa said, maybe now, for your own sake,  it's time to relax a little in the knowledge that your doctors are right into it now, seriously looking for all of these possibilities. When this isn't the case we feel like we need to keep searching for answers, but it sounds like you have some very concerned thorough medical support now with the knowledge to figure out the unanswered questions. Sometimes the closer we get to an answer the more impatient we get to arrive, but the diagnostic wheels still have to turn.   Just a side comment, I think in another thread you were asking about the puffy face, seems too obvious to suggest to all you nurses, but isn't it common for steroids to cause that 'moon face' ?  My nephew has had many courses of steroids for Crohns and he has that side effect, I was told because of the steroids.  Just wondering if this could be the cause for Brie. Thinking of you, with all the challenges life is throwing at you right now. Ruth

Title: Re: My daughter's story Post by Kim on 03/23/11 at 15:54:50 Ruth;      Thanks for your response.  As far as the puffy face... this just started over the last month.  (and the only change we have made in that time is the start of Gastrocrom).  Yes... I have wondered if it was from the steroid but she has been on this for 11 months now and this is her newest symptom and I would have expected it sooner.  And again... the Dr.'s tell me that the Entocort does not cause the systemic side effects that steroids such as Prednisone do.  But... I feel she gets more of it systemically than she should since it has helped her other systemic appearing symptoms.  I also know that puffy face can go along with Addison's disease....  So we will sit back and let the Dr.'s work their magic and hopefully have some sort of answer by the end of June after we get through the ACTH Stimulation test and see Dr. Castell's.                                                                Hugs,  Kim

Title: Re: My daughter's story Post by Josie on 03/24/11 at 01:19:58 Hi Kim , :-) Moon face comes with high steriods. How much brie is absorbing is so difficult as with poorly bowels , I , generally need higher doses to have the same effect . Addisions causes certian symptoms whic do overlap with mcas . This is why they are making sure . Autoimmune conditions also open us up to two things . 1. it acts as a mignifying glass on mcas and when it is controlled the mcas has less to play with 2. it causes symptoms , like angiodeama because there are extra compliment cascades . Compliment is a cascade of chemicals which have the effect of attracting other immune cells and degranulating mast cells . It may well be that Brie is having more systemic steriods than the doctors think - though it is unlikely at the dose ;-) The acth test will tell you . If Brie is negative for autoimmune addisions , and its not the steriods , she may just be like me . The exception that proves the rule . She may well have addisions which is aggravating her mcas . But once the background problem is identified and stabilsed then it will give less ammunition ;-)   In real terms , Now , I am having steriods at the same level as everyone else makes and I am having no steriod complications . I am like you I like to understand why things are happening to me . Sometimes we just don't know at the moment . BUT All that matters is Brie is treated and well ;-) For ages i felt this was not possible for me . But I am getting there ;-) My diagnosis is angiodeama - swelling - we dont know why . My autoimmune checks have come out negative . My heridatory angiodeama has come out negative . My tryptase is normal . BUT the anti histamines work . So we remain on that road for now ;-) You have an amazing team of doctors ;-) who care genuinely about Brie being both well and diagnosed ;-) How are you feeling in all this . I have spent time wanting it all to go away as we all do . Time kidding myself I was accepting it when I was still looking for the holy grail of a diagnosis in which I would go back to normal ;-( That was a hard day , the day I had to accept it wasn't going away but needed to be managed . Then somehow it twigged . It would be managed , the epi pen worked . I may not go back to the old jose , but I would be ok ;-)   How is trigger working out going ??? For a year I blamed everything on food , then I sussed one trigger , then another . Now very few of my reactions are foods as I am avoiding the ones that bother me . For moon afce comparision - I ahve pics on my facebook which are me last may - classic moon face . Look up Josieevans in Bristol UK and ill add you so you can look at them . My face has gone right down now ;-) Many hugs to you and brie Josie

Title: Re: My daughter's story Post by Kim on 03/28/11 at 12:54:30 Brie is scheduled for her Adrenal Stimulating Test at 6:30 tomorrow morning.  They are admitting her to the local Pediatric Unit.  We met with her Dr. today and she is quite pleased how well Brie is responding to the Gastrocrom.... hopefully this will lessen any chance of a reaction tomorrow  8-)                                                              Kim

Title: Re: My daughter's story Post by Lisa on 03/28/11 at 13:24:17 GREAT NEWS KIM!!!!!     I will definitely be praying for her tomorrow morning!!!    [smiley=engel017.gif] Let us know how it goes AS SOON AS YOU CAN!!    Try to be calm, I'm praying for you too!! KISSES!!! :-*   ps  - Tell Brie that her FANS here are cheering her on!!  Give her a big hug for me Kim.  Let her know that I'm here praying for her!!!

Title: Re: My daughter's story Post by ruth on 03/28/11 at 13:40:28 Adding my thoughts and prayers. And glad you can get past this one and hopefully rule in or out another possibility. Ruth

Title: Re: My daughter's story Post by Kim on 03/29/11 at 06:06:21 Brie did ok with her Adrenal Stimulation Test today.  They admitted her to the Pediatric ICU so that made me feel more comfortable.  We are home now.  The only symptoms she had was some nausea and some small hives that would come and go for about an hour.  Nothing really scary.  I don't know how long it will take to get the results but I will let you all know once I hear something.  Thanks for keeping Brie in your thoughts.                                                                   Stay Well, Kim

Title: Re: My daughter's story Post by Lisa on 03/29/11 at 14:12:21 WHEW!!!   I AM SO RELIEVED!!!!!!!!!!!!!!!!!!!!!!! Thanks so very much for letting us know Kim!!   I'm glad she did well and I'm so glad they put her into the ICU!!!  That's great!!!   There is never something like too much precaution when it comes to us!!! Whew, glad thats over!!   Hope she rests up well!! You too!!! Hugs! Lisa

Title: Re: My daughter's story Post by Kim on 03/30/11 at 14:54:17 Lisa;     Can you tell me if there could be a "delayed" reaction to the test?  I am trying to figure out if Brie had delayed symptoms or if things were just her normal symptoms.  ALL of her symptoms have been next to none (except for the flushing) for a week or more now.  But after leaving the hospital she got really nauseated and later a stomachache.  Then before bed she had a headache and some dizziness.  This morning she awoke with real puffy eyes and this evening a bad stomachache.  Her teacher reported she was VERY tired all day in school and kept laying her head down (although she had a good nights sleep last night).  The only symptoms she had during the test were some mild flushing and some mild small hives that would come and go for about 1 hour.  None of these symptoms are new for her... but they have been absent most of the last week or more so I am just curious.  And none of them seem extreme or much to get worked up about.... but once again - just curious.  Also  she did not get the sneezing, watery eyes and barkey / croupy cough that she had after anesthesia in the past.                                                          Thanks Hon,  Kim

Title: Re: My daughter's story Post by Josie on 03/31/11 at 01:18:57 Hi Kim , I know this is not asked of me but i wanted to answer ;-) My experience of the test was I was fine as Brie was but have aftershock symptoms which in themselves are not serious . I don't know if brie has had any bi phasic reactions . This is where you have an initial contact reaction and the up to 6 hrs later have more symptoms . I experience this in big and small reactions . i also get a build up of symptoms before a biggie . I am also more sensitive to food allergens when I have an empty stomach as they get in quicker ;-) So it could be the after effects or it may be a completely different trigger that is bothering Brie . When I have had procedures the anticipation alone can be enough to irritate me - flushing , swelling etc  and irritatingly the wait for results in the same way . When I am in this situation I double my baseline antihistamines - ranitidine , piriton , hydroxizine and dose any symptoms early to make absolutely sure they don't go anywhere . I understand dosing is more complex with little ones . Do you have scope for this ?? With extra mast cell activity I am exhausted and sleep round the clock ;-( but once its passed it helps me avoid symptoms . Even a long day with no stress or anything can lead to increased symptoms for me the next day . I hope this helps Josie

Title: Re: My daughter's story Post by Kim on 03/31/11 at 12:40:41 Josie;     Thank you so very much for your response and the explanation of the delayed reactions that you experience.  I just wonder if this is what Brie experienced as she has been pert near symptom free for a little over a week and then had 2 days of symptoms that actually started with the hives that would come and go during the test.  Brie's symptoms were not life threatening at all... nor were they anywhere near as severe as they can get. .. but it does have me wondering if "her bucket" was overfilled with the stress or other things involved with doing the test.  I was just curious if many others experience this.                                                               Stay Well, Kim

Title: Re: My daughter's story Post by Lisa on 03/31/11 at 16:14:17 Kim Josie's got a pretty good handle on it but let me take it a step further.  I wouldn't call it a backlash or even a bi-phasic reaction, but what's really happened is that you stirred up the pot, let's say.   This is something that I've noticed in my own self in that if you can get the disease to calm down a bit, of being that of only the daily "routine" then it get's into it's own set ways.  But when you present a situatio nlike this, it "stirs the pot up" and unsettles the system and it begins to feed itself once again.   I don't know exactly what Dr. Castells would call this and I don't know that I've ever heard anybody call it anything, but this is what I can figure out what it is, in that because you've stirred things up, it's created it's own undercurrents and up and down drafting and this is what all of this extra activity was.  You unsettled her.   So, what do you do?  Cut back on all physical activity and demands, ask her teachers to give her the very bare minimum of work, you must consider her "sick" as though she had a flu and just let her lounge around doing the very bare minimum in order not to stress her system any more - that can be visual, emotional, physical, etc.  Also, you need to up her meds to not only compensate for the extra reacting, but to help calm her system back down again.  This is like a setback situation and her masto is self-feeding in that because you stirred it up, it's now got fuel for the self feeding process.  So, in order to cut it you must take these TEMPORARY measures until you see that things have calmed back down again and you can cut back on the meds.   It's not a permanant thing, Kim, and you can get her back under control, but it takes time.  I've gone through this loads and you can and will regain the control, but for now you've got to cut back on the stress upon her system and increase the meds to compensate fro what is going on and even more to try to take it all back under control again.   Increasing her prednisone at this hour may not be a bad idea, but if you don't want to go this way, then adding another dose of antihistamines is the way to do it.   Talk with her doctors and see what they recommend.   I hope it helps! Lisa Josie - don't be shy, sweety!!  Kim and I have a good relationship, but there's always room for more!!  :)

Title: Re: My daughter's story Post by Kim on 03/31/11 at 16:35:14 Lisa;   Thanks for your post.  My mind is toast at this point and I have done nothing but give myself a headache.   I do not yet know the results of the Adrenal Stimulation Test... but I do know that something came out as at least "slightly abnormal".  The nurse called me today with this information... and the Dr. will call me "once she has time to check into a few things."  Don't blame the nurse!  :-/  as it was I who pushed for the answers  ;D... as I always seem to do.      So now I sit and wonder just what this means.  Been scouring the internet and can not tie Adrenal deficiency to MCAD.  She DOES NOT have many of the symptoms of Adrenal deficiency... and yet some she does have.... but these seem to cross over with the symptom of MCAD.   And every symptom that she does have fits into MCAD. So if they come back and say it is all due to Adrenal Deficiency I will be discouraged.   And I am not sure I have the patience to wait another 3 months for answers from Dr. Castell's as far as MCAD.      Ok.   I am well aware that I am letting my fears get ahead of me hear and I need to take the back seat and let all of her Dr.'s figure this out...  but it is soooo hard!   And I just do not know what it all means to have low cortisol levels that I can not figure out a reason for.  She so far has tested negative for any Autoimmune disease... which could tie this and her MCAD symptoms together. So I am open for any input at this point.  Her Dr.'s are just as confused as I am and I hate to say this but I know more about MCAD than some of her Dr.'s do and I just want to make sure I am still going down the right road and can help them do the same.                                                          Thanks to all of you,  Kim

Title: Re: My daughter's story Post by Josie on 04/01/11 at 00:29:31 Hi Kim , I completely understand ;-) The good thing about adrenal insuffiency / not working , is it is recognised and can be treated ;-) Hormones and steriods can be replaced without any side effects . My experience is and others have said this to me , that any autoimmune disease puts a microscope on mast cell activity . So , with that in mind , any autoimmune condition , when controlled , will take that magnification away .;-) If brie has an adrenal problem , then they will treat her . My adrenal problem was not diagnosed for a long period as I didn't present typically . Even I , as a nurse having nursed patients with addisions ( low adrenals ) had disgarded it as I didn't fit 100 % . My nursing freinds and my pharmacists guessed at it , with logic . All that actually matters , and I have been where you are , is Brie being ok ;-) and having the right diagnosis . When I have been stable for a couple of weeks i start thinking i have got there . i am on enough medication . Then my symptoms return for varying reasons , this week it is hormones , and i feel deflated , almost like I am back to square one , when we had no idea what was happening . I know I am not and I quickly sort myself out , but I still feel it . I was absolutely gutted in December when I went to ED and I had had a 16 week break , it was 3 weekly for 18 months . But I had a cry and it passed . I was ready to begin recovering . Regards the , I know more about mcas than they do . yep , you do and you will . You will have moments where you have to wait for doctors to get up to speed . i direct doctors to the videos on you tube They get it then . In time Brie will also feel this . This is ok ;-) your doctors are listening and doing their job . That is the most important thing for Brie and you ;-) Of the non mast cell specalist doctors I have met , the best have been those who are able to think outside the box . There was no box for Josie . But the good ones treated what they saw and documented it clearly so doctors following could get the picture of what they saw . My family just wanted me better and the thought i may have something that would remain with me was very hard for them to cope with . I have known where I am at because I can feel stuff . I know when to rest , when I need more medications . Also that certian things will stir up my pot and make it slop over the top a bit ;-) Does Brie tell you when she is feeling symptoms starting ?? I have developed my own list of symptoms from minor to serious ( for me ). I have done this by documenting all my symptoms over a yr period . Because i did this , I now know my very early warning signs . Which i medicate ;-) and / or remove myself from the situation ;-) I have done a booklet to do this and to keep a diary . I am happy for you to have a copy whilst you await Dr Castells . I am the sort of person who needs a plan and needs something to be doing ;-) Even if the plan never comes to fruition , I like having one . By knowing my symptoms , it has taken away my fear that i will miss something and get very poorly . Emotionally , I have had to go through a period of letting go of what i was , who i felt i should be . In the initial stages I could do denial as as far as i was concerned it was short term so i didn't need to worry . Then it became medium term and I had to accept it . In going into this I had to accept that this was how it was . i didnt want to . Recently I have been going through another transistion into long term ;-) . I really didn't think I would need to . Certinley in my denial phase I was looking for the perfect diagnosis that would mean i would be back to "normal " in a few months . It has only been with me embracing a new normal that I have really got a grip on my fears and limitations . By a new normal I do mean my symptoms are normal , though i did begin to see things that way when i was undermedicated . I mean having to live my life a bit differently ;-) brie is doing very well . I would not manage school . I found getting hold of my fears impossible , like they were covered in oil . That oil for me was fear , no its too small a word . i was petrified that i would die and leave my children ( tears ) . So me understanding myself was all to ensure I would be Ok . I am not saying this is the case with you . I just wanted to share with you ;-) Any mum will feel everything you are and it is plain to all how much you love brie . You are caring for her so well . xxxxxxxxxxxxxxxxxxxxxxxxxxxx many hugs Josie

Title: Re: My daughter's story Post by Lisa on 04/01/11 at 00:37:09 Kim, Don NOT get discouraged!  I fully understand your fears!  You're afraid that they're going to throw the baby out with the bathwater since they don't understand yet what is "baby" and what is "bathwater"!   DO NOT FEAR!!!    This obviously can NOT be blamed upon the adrenal situation only and if you're smart enough to figure that out, then it must be obvious to them as well.  If they really are as perceptive as they seem to be, then they're not going to leave it at that.  The treatments that are helping to improve Brie's condition speak a great deal for themselves - you do NOT treat and adrenal issue with GASTROCROM!   They know there is more going on here.  What they are doing is trying to separate and identify what all of the things are that are going on with Brie and in order to do this they've got to test in order to make exclusions and also pinpoint what each thing is that is going on with her.   Kim, these imbalances can be part of her triggering system!  You've heard us talk about POTs, right?  Well, there is a hypertensive and hypotensive POTs and these things are really big triggers for us!  When I'm doing a lot of reacting, I can't stand in place for any length of time!  I had my pressure shoot up to 230/110 just because I had to stand waiting for my doctor to give me some paperwork one morning - I was in her office for about 5 or so minutes when just that standing in one place began to make me ill!  She was SHOCKED to say the least and had no idea that POTs could cause this hypertensive situation and when I sent her the information connecting it to mast cell activation, she was even more shocked!  She's an angiologist ant this is her area and even then, Kim, she's learned things with me that other diseases won't teach.   Now, have they done an adrenal test on me?  No.  Should they?  Probably so.  Will they?  I've not the slightest!  I've had my cortosol off at times and yet nobody's thought to test it here.  Yet, I'll bet my cardiologist does this when he does an investigation into my syncope. Kim, your fears are that they won't see the big picture, but I think you can be at peace about this, Kim.  This is why your doctors were hesitating before talking to Dr. Castells.   If the adrenal issues were the only ones, this would have been discovered by now.   Yet, here's the beauty of your situation - nothing is going to stop you going to see Dr. Castells!  That's YOUR business and not theirs!  You've got the appointment, and it's your business if you want to go see her - they can't stop you, so don't worry about it.  Yet, thankfully you've still got room enough to find more understanding and therefore when you do see her, you've got more puzzle pieces in your hands to show her and she can put them together then!! So, don't be impatient and don't worry.  They are doing their jobs FINALLY and they've seen that Brie's unstable and in trouble and they are trying hard to find out all of the pieces of her puzzle.   I honestly think, Kim, that going to see Dr. Castells won't give you that magic wand to resolve all of Brie's issues.  But, what she will do for you is to give you and your doctors the confidence that they need as to where they are taking Brie, or more like, where Brie is taking them!!!  They're blind Kim and they are groping in the dark and they've only got the crumbs that Brie is throwing at them to lead them along and they are trying hard to follow those crumbs!  This is something totally new and foreign to them, my friend and now that they've learned to identify what is the crumb and what is not, this is what they are following.   Dr. Castells holds the flash light and she'll know what to do with those pieces and what belongs to the puzzle and what doesn't.   So, again, take a deep breath and relax!  You've been on your guard for so long you don't know how to let it down anymore.  I fully understand it!!   But, trust me, Kim, even though I'm still pushing for further answers, there truly does come a time when the pressure begins to let up and you can come down a tad from that guard without fearing that your doctors are going to get totally lost again.    Don't let it down all the way, for there is always the possibility that they can lose the track of those crumbs.  But, I don't think so!!   My dermatologist had one of these periods too, but it was Dr. Castells who saved the day for me!!! So, my dear, be at peace!!  They've caught the crumbs and have an idea of what it tastes like.   As to the pushing, Kim, KEEP PUSHING!!   Don't feel bad about that.  You have to do this and you've seen the fruit of this constant pushing.  You're being a SQUEEKY WHEEL!!!   KEEP SQUEEKING!!!   I think that if more of us did all that SQUEEKING, or more like SQUAWKING that this disease really requires that we do, many of us would have more answers and better care.   Those of us who seem to defy the WHO criteria for SM are truly up against the wall to find our answers!  We don't fit into the box and due to this our doctors don't know what to do with us.  If we don't push, we just won't find the answers.  It becomes a full time job, but it is one which reaps a lot of fruit!!   JUST KEEP PUSHING!   [smiley=thumbsup.gif] Hugs Kim, and DO NOT GET DISCOURAGED, the finish line is in view, and then it's on to another phase! Lisa

Title: Re: My daughter's story Post by Kim on 04/01/11 at 03:00:12 Josie and Lisa.... Thank You!  Thank You! Thank You!  Everything the two of you said is so true.  And it is others input and views like this that puts the wind back into my sails!!!!   Brie has tested negative for most everything (which has been A LOT) in 3 years time and I really did not feel this test would come back abnormal.  Although I won't know until the Dr calls me just what the "abnormality" is.... it may really be nothing much... who knows?                                                        Stay well,  Kim

Title: Re: My daughter's story Post by Josie on 04/01/11 at 04:18:00 Hi Kim , My pleasure sweets . We have all been there in various ways ;-) I understand the negative test results , your pleased , but increasingly frustrated as to what it is . Then bugger me , something comes up . The doctor is doing his job , making sure he has all the info when he speaks to you .  I also understand the waiting too . i had a letter yesterday saying I had to wait until October for my next appointment , put back from may     ............................................ Ah No . I rang the secretary , she is talking to the doctor on Monday and she will re appoint me from there . hugs Josie xxxxxxxxxxxxxxxxxxxxxxxxxx

Title: Re: My daughter's story Post by Kim on 04/01/11 at 16:21:08 The results are in... and the questions continue..... Brie's Adrenal Stimulation Test was abnormal.  She did not produce the cortisol that she needed to during the test.  I do not know the baseline level before the test (forgot to ask that while on the phone and I had upset the Dr. with our call so I did not want to call back and ask)  :-X  But her baseline that resulted in the test being done in the 1st place was only a little low at 6.6.  Her 30 minute level during the test was only 12.7 (should be at least 18-20) and her 60 minute level was 9.8 (again should be at least 18-20). This Dr. then counseled with a site that has over 200 Endocrenologists and asked for their input into this situaion and it sounds like she got plenty of responses.  When they did Brie's test they did the Low Dose Short Test (which is the most sensative).  During this test they inject 1 microgram of the adrenal stimulating medication.  Apparently 25% of peole will test abnormal with the Low Dose Short Test (unsure why this is and anything I could find on it stated that this is the more accurate test).  Regardless... The Endocrenologists that she consulted with recommended that the test be repeated using the Conventional Test in which they inject 250 micrograms.  She wanted to set this repeat test up and I told her that I was willing to do that but also let her know of the mild symptoms that Brie experienced for 2 days after the 1st test.  Not sure why but the Dr. seemed "incensed" over this and said she doesn't want to repeat the test now until after Brie sees the Mast Cell Specialist.  I concurred with her concerns but verbalized that 3 months is a long way out and I feel Brie needs some answers now if she is producing such little cortisol and that these are life sustaining hormones and she has proven over and over her episodes of crisis.  I asked her to contact Dr. Castell's and discuss Brie's case with her and see if she could recommend how we can premedicate Brie before doing the 2nd test.  She seemed to become even more incensed with this idea and got down right rude and felt "put out" by this request.... although in the end she did agree to do so. I heard back from her Dr. later in the day and she did infact call Dr. Castell's office.  Due to "liability issues" the office was not comfortable giving out a protocol for Brie until after they see her first hand. Due to this her Dr. and I both agreed we need to wait to do the 2nd test as if she truly did have mild reactions to 1 mcg we can only speculate what may happen if she is given 250 times that dose.  So now we have a 3 - 4 month wait to find out answers for this as well. But this Dr. did assure me that I can call anytime it looks like Brie may be heading into Addison's Crisis or some other issue.... which without a question I would do with or without her blessings  ::) So we are once agin moving forward but yet taking a step backward for the time being.  It will all come together... I just don't know when this will be.  I do appreciate all of you who have been following Brie's situation and the process of obtaining a diagnosis, the support, feedback, thoughts and opinions.  You have all been so helpful and Brie and I would not be where we are today if it wasn't for all of you!!!!                                                   With Sincere Yhanks,  Kim

Title: Re: My daughter's story Post by Lisa on 04/01/11 at 17:13:12 Kim, one of the very HARDEST lessons we have is that of WALKING out our faith, not only in God but also in our doctors and others.   (No, people, I'm not preaching so please don't anybody get upset with me.)  This is especially hard when we see the goal and we want to RUN to get there! Kim, I know I say this time and again but I do very much know just exactly the frustrations you are feeling for you're tired of beating your head up against the wall and also of seeing your baby suffering!! But please, let me take you back several months to before you had found this one doctor who began to see what you've been telling him - the one who has really made such a difference in the life of you and Brie.  Remember how it was in the very beginning, going around from one doctor after another and the fact that they weren't taking any of this seriously!  Read back to your first posts and how hard it was back then just to get a doctor to listen to you!! I'm thankful that your doctor is being cautious!!  This means she's not looking at your baby like a "project" just to make her name important.  Instead she's really caring and trying to protect her.  Although you are a nurse, Kim, have you ever seen anyone have a bad reaction to this exam?  I've not, but obviously your doctor has!  And for Dr. Castell's office to refuse to send the protocols, this make me feel very, very concerned!!   Don't feel frustrated, this door may have closed ON PURPOSE and you must see it as a protection instead of a "NO".  God will open doors and He will close others and you've got to learn to accept it without getting upset. And I think that this definitely shows where your doctor is in regards to the MCAD diagnosis!  See, you didn't need to worry about it at all!  She's believing in it more than ever obviously! Look Kim, if your doctor got rude with you, don't get offended.  I wouldn't be surprised, Kim, that it wasn't real rudeness, but more like she's frightened by what she's got on her hands!   People who are scared can come off as being rude to others.  And you may think it's odd for a doctor to be "afraid" of working with Brie, but this disease scares them due to the anaphylaxis we go through!!!   I consulted with an allergist, because I need a caretaker here in my town and it's not fair that my angiologist is who carries me!   The allergist blankly refused my case!  His eyes even bugged out!  The thing is that I get so nervous with doctors that it's insane and this ends up making me to react and this day was a bad day to begin with and sure enough I began having a crisis in his office.  When he saw me getting sick, his eyes began to bug out!  He beat the record for water fetchers so that I could take my medication!!!  But even after this, he openly refused my request and told me that he was afraid to work with me because he doesn't know the disease well enough!!!   He knew enough to decide that he didn't want masto patients! So, be patient with your doctor.  She's most likely frightened out of her wits adn I wouldln't be surprised that someday, when she looks back, she'll say that Brie was her hardest patient! The 3 months will FLY by Kim!!!  Just keep up with what you are doing and in no time you will be packing your bags for Boston!!! Hugs!!! Lisa

Title: Re: My daughter's story Post by Kim on 04/01/11 at 18:16:03 Thanks again Lisa;    You never fail to help me see things in a different perspective and I so desperately need that!  I'm not losing faith.  But yes... I'm a little frustrated that we may be so close to answers and can't quite get there in the time frame that I'd hoped for.  It's been 3 long years... but from what I know 3 years is minimal compared to the 10 - 20 years that most people have to wait for their answers.  So I am thankful for that.     I am also thankful that this Dr. is being catious... I do not want Brie to go through anything more than she has to and I truly fear a Bad episode of anaphylaxis may be in the waiting if we are not cautious.       You mentioned that you are concerned about Dr. Castell's not being willing to give us a protocol at this time.  Can you email me more on what concerns you have about this please?  I certainly undertsand the laibility issues but feel your comment goes deeper than that and would love to hear your input on this.  And private email may be the place for this discussion.     I wasn't upset that Dr. Castell's wouldn't give us a protocol.  Nor was I upset that Brie's Dr. wanted to wait until after Brie see's Dr. Castell's... at least not after she called Castell's office.  I was somewhat upset  when she initially wanted to wait and let this "sit" for 3 months and not do what she could to make it happen sooner.  But once we hit a road block with a protocol I too wanted to wait as I don't want anything to happen to my baby.  (Brie would not be happy if she heard me call her this! ::)     I never looked at her "rudeness" as fear until you mentioned it and I think you may be totally accurate here.  She was going full force with explaining the results of Brie's test, her consult with several other Pediatric Endocrinologists and the plan to retest.  I then threw a wrench into this plan when I verbalized concern of giving her 250 times the dose and the mild symptoms that Brie did experience with only 1 mcg.  She then became VERY quite and I actually thought I lost the phone reception.  But she was just giving thought to what I had just told her.  This is when her attitude changed and she became very short... I have to admit that I took this on personally and actually wanted to say "Do you think I intentionally brought on Brie's symptoms" (but I of course didn't).  This was when she said she would not do the repeat test... out of fear I am sure.  So I gave things another push by saying I would like answers regarding the Adrenal Glands and felt Dr. Castell's may be of assistance in helping us medicate Brie so we could do the 2nd test.  This is when she started to complain that her lunch hour was already over and she has a lot of "catch up" to do and that she didn't feel comfortable contacting a Dr. she doesn't even know and one that hasn't even seen Brie yet.  I sympathize with all of this but felt we had to at least try and I truly hadn't given any consideration into how much time she may have already put into finding answers to Brie's test results and consulting with other Endocrinologists.  She probably hadn't even taken care of her own needs... such as eating lunch and may have fallen behind with clinic patients due to the time spent on Brie's case.  The selfish side of me came out here  :'(  If it was truly fear on her part I hope she is able to deal with this in time as I don't want to lose her as one of Brie's "Dynamic Trio" Dr.'s!  She is a wonderfully intelligent person/Dr and she can be soooo much help in Brie's care.  She also again mentioned that she thinks there is something gentic with many of Brie's issues and wants her to see a Genetisist - we already have an appointment in June for this.  Just earlier this week this Dr. was SO EXCITED to follow Brie and commented how much Brie was going to teach them all... but maybe after knowing about how quickly her symptoms get set off she did get in touch with her fears of the "what ifs."   But in the end it was all good and she recognized my need for answers for Brie and she did follow through with my request to contact Dr. Castell's.  When she did call me back she did not sound irritated any longer and we both agreed that the decision to wait was the best for the time being.     I have waited this long and I can play the waiting game a little longer.  Brie is truly so much more stable after starting the Gastrocrom and I am so very pleased with this.  I no longer live every day in fear of her next severe episode of symptoms landing her in a rush to the Dr.'s office or a stay at the hospital with no answers as to what is wrong.  At least when and if she goes into another one of these epsiodes I feel assured that at least 2 of her Dr.'s will either trial an Epi Pen or do what they need to test for Addison's Crisis and we will be able to treat Brie much more quickly and promptly.      I know it doesn't always sound like it... but I truly am in a much better place in dealing with all of this emotionally thanks to all of you and her latest "Dynamic Trio" of Dr.'s and I know she is in good hands!                                                                          Stay Well, Kim

Title: Re: My daughter's story Post by Josie on 04/02/11 at 03:14:33 Hi Kim , Dr Castell's and her office are behaving responsibly in not issuing a protocol . They need to see brie and document her and her illness . They will then have a plan , which will include plans for procedures like this test . In December I was very poorly with 3 shocks in a week . I was due to see DR Grattan , the UK masto specialist in January . He returned my call and spoke to my GP . But would not change any of my drugs or plans for me without seeing me . This is good medical practice . When I have expressed concerns to doctors I have had some get uppity because they think I am questioning them . I am keeping myself safe .  I think she talked to Dr Castells office and they backed up your concerns and that they were more important at the current time than repeating the test immediately xxxxxx I agree with Lisa , that your doc has got a bit scared . I have seen my doctors go through this . they are happy to take me , then they see what I can do and get a bit scared . With mast cell conditions it is important doctors understand its quirks and often lack of logic . I am very pleased you have found her . She seems happy to take specialist advice . Once Dr Castells has seen brie , they will remain her specialists forever . Your local doctor will be able to ask advice . IF , they feel Brie's problems are not mast cell ( very very unlikely ) they will point a direction to move in ;-) I hope Brie's symptoms are settling ;-) hugs josie

Title: Re: My daughter's story Post by ruth on 04/02/11 at 03:35:18 Hang in there Kim, one day at a time, and now it's April hopefully June doesn't seem quite so far off. I am really glad you have this place to debrief and vent your feelings and experiences, and get the support that helps so much.  Praying for you both as Brie regains ground on her symptoms and for patience and good health for you all. Ruth

Title: Re: My daughter's story Post by Kim on 04/03/11 at 20:32:50 Here is the latest thoughts I am pondering.... I want to start this by saying that I am in no way saying Brie has cancer, or that she will in the future.  In fact her Dr. at Mayo made sure he ruled this out at the time that she saw him.   But I am very interested in knowing what type of abnormal genetics run in our family.  I believe I put in one of my earlier posts my family and extended family runs rampid with a multitude of autoimmune diseases.  Althoug Brie has tested negative for autoimmune disease. Last week my sister had a mastectomy for "aggressive breast cancer". I do not know what type it is yet... and even though it may not be a genetic type I am very curious.  She was unable to understand the diagnosis to tell me so she is mailing me her findings so I will know soon. On April 1st my niece went into pre-eclampsia and ultrsound showed the baby was Hydropic. The baby (Chloe) was taken by c-section (8 weeks early) to save her and my nieces life.  Chloe is gravely ill with a multitude of medical issues and has about a 10% chance of surviving. Chloe was also born with a congenital form of Myeloid Leukemia (extremely rare to actually be born with Leukemia)!!!! She started Chemo when she was less than 48 hours old.  She is a FIGHTER!!!! Brie has not been diagnosed with Mastocytosis... but with Myeloid cancer now in the family you can bet I will push even harder for a bone marrow biopsy when we go to Boston. AML can have a genetic basis and in rare cases is seen in Mastocytosis patients.  There is also a link of some forms of Mast Cell Disease being related to genetics. And two of  Brie's  Dr.'s have repeatdly said in the last 2 months that they feel Brie may have some genetic factors playing a role in her medical issues (at least some of her issues). Brie has also had 8 episodes of Neutraphilic Eccrine Hidradenitis (NEH) only to the palms of her hands and no reason for this found. NEH was initially seen only in Myeloid Leukemia patients who were on Chemo.  Later it was found in Myeloid Cancer patients without Chemo and then again later in some other types of cancers.  But it remains more prominent in the Myeloid Cancers.   If there is any chance of Mastocytosis and something even scarier that could be dorment at this time (precursor to AML) we need to find this out soon.  My niece is going to give me the Genetic test results that they are awaiting on Chloe and I will be taking them to the appointment that Brie has in June with a Genetisist and to Dr. Castell's appointment too.  This could all be coincidential... but I am questioning BIG time at this point and can only hope that I am wrong in thinking there could be a genetic component to all of this.                                                                       Kim

Title: Re: My daughter's story Post by Josie on 04/04/11 at 02:10:41 Hi Kim , I understand ;( What a horrid time you and the family are having . mastocytosis is a genetic disease . It is due to a mutation on codon 816 at the ckit point . It can also show cell markers . So to this degree you may well be right . I can see exactly where your concerns come from . I just wanted to fill in some bits for you . I know you probably know all this . But I just want to reassure you on some points . I know there will always be the exception . But AML shows in bloods . Because it affects production of various blood components as they originate in the marrow . I have nursed all forms of leukemias . I have a friend attending our oncology centre here for the very same this week Myeloid luekemias show in blood . They can also be tested for with urine and blood eletropharesis . I have been tested for myloma . This was felt to be very likely at one point in me . I had MRI back and spine and the bloods and urine tests - clear . The blood and urine tests have been repeated a couple of times since to be sure . Antihistmines will not help leukemias or mylomas . So the fact these help Brie is a strong pointer towards mast cell . Steriods can help mylomas , but only in large doses . Brie is only on low doses so it is unlikely to have been masked . There are some crossovers in the neoplastic mastocytosis and leukemias . If your docs had any clue this was the case your feet would not be touching the ground with the speed you will be appointed to the correct teams . I want to give you a huge hug and make June come tomorrow . Josie ;-)

Title: Re: My daughter's story Post by Kim on 04/04/11 at 07:08:14 Josie; Thank you for your post and explanation.  Maybe you can help me with a few other questions I have.  I am aware that Myeloid Cancers will show in the blood...  and Brie shows no signs of this. She would also be MUCH sicker and would rapidly decline if she did.  So this is not a concern of mine.  I truly am not "running with fear" at this point.   My current thoughts are based more on the genetics at this point.  And if our genetics could be "red flags" for potential problems for Brie down the road, or for our other family members, our children and grandchildren. At this point we honestly do not even know if Brie has MCAD or Mastocytosis. I am hoping for some answers to this come June.  Although she does respond to the medications used for this and has so many of the symptoms... it is highly suspected. So my concerns are as follows. Please correct me if I am wrong with any of this information as I am still learning it all and trying to understand it all.   :-? I know there is still contraversy out there as to whether or not MCAD can be a precursor to Mastocytosis.  I think there is just not enough research / answers out there on this yet.  I  am aware that only 50% of children will carry their diagnosis into adulthood and that although  adults with indolent mastocytosis usually have their disease persist throughout life, it often remains stable. But some patients with indolent systemic mastocytosis, however, will progress to more advanced types. With Brie's symptoms appearing to have started at birth or shortly after and progressing VERY significantly over the last 3 years I have to be honest that I am less optimistic that her symptoms will spontaneously resolve by adolescense.  I can only hope that my thoughts are wrong here... but only time will tell. Due to all of this... and not yet knowing if Brie has MCAD or Mastocytosis I am VERY anxious for the answers.  I know they rarely do Bone Marrow Biopsies in children and this is the last thing I want for Brie to have to endure.  But on the other hand... with our family history I have to seriously consider the Genetic component that may be involved here and would really like to pursue answers in this direction.  (Not only for Brie but for out entire family now and in the future). And I am not sure that we will get these answers without a Bone Marrow Biopsy to see just what Brie does or doesn't have going on.                                                             Thanks,  Kim

Title: Re: My daughter's story Post by Josie on 04/04/11 at 08:28:16 Hi Kim ;-) I completely understand ;-) I knew you weren't looking for stuff that is not showing ;-) I sometimes find it helpful to review things ;-) I also understand your genetic concerns . What i would say is that for now , I know how hard this is . i have children and am anxious that they may become ill , so I understand . For now , you could see masto / mast cell for what we do know now , as the future (fortunately or unfortunately ) is not our for us to see . So , what we do know is that mast cell disease falls into 2 camps :- clonal and non- clonal . Clonal is extra mast cells , mishapen in clumps . This is mastocytosis . This gives a positive tryptas. These misbehave and burst in response to triggers . Non clonal - is a normal mast cell population , misbehaving , bursting ( degranulating ) due to triggers The exception is mmas -monoclonal mast cell activation. Where you ahve mast cells in clumps but they are clumps too small to be considered mastocytosis . The ckit mutation is on codon 816 . This is the genetic element , It is a minor criteria for diagnosis of masto . the full details are on the TMS website underconsensus document . I am sure deb has done an article here ;-) In general terms you have to have one major and one minor criteria or 3 minor to has mastocytosis . Without these criteria you have mast cell activation syndrome . The research has found some patients who do not fit the criteria for masto that ahve a ckit mutation . But as you said , research has not found a link in all patients for a genetic origin. So , does it really matter ??? The way it is important is in being able to watch patients . But once brie is with a mast cell specalist they her hers for ever . I know this is based on her being diagnosed with a mast cell disease ;-) BUT , the medications are the same ;-) and ............... THEY WORK ;-) you will not be sent away with no where to go ;-) I can't tell you Brie will get better , BUT , we do know she is going to see the best ;-) I feel this before any appointment , especially with top doctors as even now , with a diagnosis , I need them . There are very few times and places in my life where I truly need someone . I love my partner and kids , I feel I need them to be ok . But in really it is not a raw need like this . I have seen that this is why I have and ( although I try not to ) feel this about appointments ;-) Just for a second say its not mast cell , very unlikely , the docs will find a new direction ;-) and point you that way ;-) As for , will Brie progress to a more serious form of mastocytosis . thats a we can't tell the future one . I ahve had many concerns like this for myself . I had to apply my poem . Have the courgae to change the things you can , senerity to accept the things you can't and the wisdom to know the difference ;-) This was a senerity one for me . You ahve pushed and will still do to get the right answers for your little girl , but for now ( maybe ever , but I work it sections of time ) take her illness away . You can however learn yourself and with her to manage it so she is as well as she is going to be ;-) You are doing that . now you are close to the specialists . They will help you manage bries illness , but , it is likely they won't cure it . So , thats abit depressing . No , its not . Its a way you working with a good team , amazing team of doctors can work to give brie the best , most functional life . Finding any genetic problems will arm you with information to help you ;-) I had to grieve for what i felt I should be , should have been doing , the roles I have had to move on from . I know I had to do this to beable to go forward . i am very positive , but I have had to accept this is here . That i am not going to nurse again , possibly not drive etc. I settled into medium term . i couldn't cope with saying forever and who says what will be . BUT , I have hope in my back pocket . It helps me see a future . At the moment I imagine you can't visulaise brie's future or what you do visulaise is hard . thats ok . You see , you are not just sitting there waiting for the light at the end of the tunnel to come on , you are stomping up there and turning the bugger on yourself ;-) Thats why Brie is lucky to have you as her mummy ;-) You have put brie you and the wider family where fate can see you , now the good stuff can happen ;-) I wanted to share a little with you ;-) I am not saying you are feeling this . ;-) I hope this helps Josie

Title: Re: My daughter's story Post by Kim on 04/04/11 at 08:54:19 Thanks Josie - yes it does help  ;D

Title: Re: My daughter's story Post by ruth on 04/05/11 at 02:39:36 You are in my thoughts and prayers Kim, you and your extended family are dealing with some heavy issues. I hope Brie is getting  past  the side effects of the tests. Take care of yourself, Ruth

Title: Re: My daughter's story Post by Kim on 04/07/11 at 15:14:49 Ok... I am in need once again from all of you experts who know the chemistry of Mastocytosis.... As it turns out my nieces baby was not born with a true active form of leukemia, but it is TMD / Transient Myeloproliferative Disorder.  Some Dr.'s are telling her this is a form of Leukemia and some are saying it is a Pre-leukemia.  I am finding the same results with my research on this.  To compound this poor little babies issues she has also tested positive for Down's Symdrome.  TMD and Down's symdrome go hand in hand and many babies with Down Syndrome born with TMD go on to develop Leukemia within a couple months to the 1st 2 years of life.  She is now a research project as they say they only have 185 babies born with TMD and Down's Syndrome and they are now using her blood to help with research for both Chloe and other babies with this or future babies with this. Here's where I need your help.  My ears perked up when I heard Myeloproliferative Disorder as I am aware that the Clonal form of Systemic Mastocytosis is this... and that it can lead to Leukemia.  With TMD being so rare in a newborn I am unable to find much related to Clonal Mastocytosis... I can only find information related to Down's Syndrome.  Can any of you offer me a lesson in Myeloproliferative Disorders such as TMD and Mastocytosis?                                                          Thank You,  Kim

Title: Re: My daughter's story Post by Lisa on 04/08/11 at 00:35:28 Gee, Kim, now that's a HARD question!  I think the hardest I've come up against!!!     Anybody else able to tackle this one???!!! Kim, I'm not sure how much I understand it, but I'll try my hand.   As we know, the clumping of the mast cells occurs within sytemic masto (WM).  This is because these MCs which aggregate in this manner have a defect and are clonal - they reproduce themselves.  This is neoplastic and aberrant.  The MCs are supposed to be reproduced in a normal manner which is that within the bone marrow, spleen, liver and pancreas, this is the place that blood cells are born, but as they mature, something happens to cause the cells to differentiate - or become changes into the different individual cells that the body is needing.  Or at least I believe that this is the process.  The cells are not meant to reproduce themselves, but they are produced and then as they mature they form into the needed cell.  But it's this cloning process which is wrong and is cancer-like in it's behavior.   So, not only can there by something wrong with the forming of the mast cells, but there can be other white blood cells which are also aberrant and are cloning themselves along with the mast cell and this is what makes it so that there are other blood disorders that coincide with the mastocytosis.   I believe, Kim, that it's that there is an underlying genetic disorder with the blood producing and maturation process in and of itself.  Yet, there is so much about it that I, myself have never studied and don't understand either.   For example, I do know that along with mastocytosis you can have lymphocytosis, which is what I have.  This is a common finding in the clonal masto patients.  There are molecules which create adhesion and this is what causes the aberrant MCs to stick together.  This is seen in other diseases in that the cells which are defective end up sticking together.  It's due to these adhesion molecules.  Well, in mastocytosis, for some odd reason, these adhesion molecules will not only cause the unhealthy MCs to clump but will also cause the normal and healthy lymphocytes to clump together as well and this is what has happened with me.   This is called lymphocytosis.  These lymphocytes are totally normal and healthy, but they are clumped.  Yet, what also happens in masto is that you will have not only aberrant mast cells clumped together, but you will also have aberrant and unhealthy lymphocytes which have also clumped together and this is where you have lymphoma coinciding with masto.   Now, as much as you can have lymphocytosis (normal lymphocytes) coinciding with mastocytosis you can also have leucocytosis (normal leucocytes) also coinciding with masto.  But the danger is when those lymphocytes or leucocytes are aberrant and clonal that the real danger lies.  Then you have TWO unhealthy cells together and this is when the disease gets dangerous because if it's only the unhealthy mast cell, it's such a slow growing process that although it's the same kind of unhealthy process, it's not considered aggressive due to how very slow the process is.  It's all unhealthy, but it's like the difference between ovarian cancer and prostate cancer.  Ovarian cancer is consider 100 times more dangerous due to how very fast those aberrant neoplastic cells reproduce themselves and invade tissues.  Whereas prostate cancer is very slow growing and thus is often easier to cure or treat due to how slow it is.   SLOW IS GOOD!   But the processes of the reproduction of the other white blood cells is faster and this is where the danger lies for you've got two separate cells to have to deal with!!  And since the mast cell seems harder to deal with and is so reactive, it complicates the entire treatment process.  But the real threat is that of the other white cells.  Lymphoma and Leukemia are deadly due to how very fast they grow and invade tissues and you've got to be very aggressive in treating those diseases.  This is why the literature will instruct the doctors to treat as according to the other coinciding disease be it lymphoma or leukemia.   Now, knowing this, I would not be surprised that when you have the situation of lymphoma and mastocytosis coinciding or when it is leukemia and mastocytosis coinciding, that the problem is in the formation and cloning of these unhealthy and aberrant cells.  Is there something behind them both which causes this to happen at all?  I don't know and this is where my understanding shows it's lack.   Jilly is really who should be explaining this because she's an immunologist and I'm in over my head!!!  I've probably made a total ruin of this, Kim, but I thought I'd try my hand for you. Jill!  How about a bit of help here! Now, as to your niece's child, Kim, I don't think you have any reason to think that she's got mastocytosis on top of this, for although the mast cells may be involved, it doesn't mean that they are the problem here.  As to Brie's situation, Kim, for right now you have no reason to fear that she's going to develop leukemia!   There does exist this non-clonal form of mastocytosis, or at least researchers, at the moment can't find any evidence that supports that the non-clonal MCAD patients have any defects upon their MCs which is forcing them to clone themselves and become aberrant.  What seems to be wrong is that these mast cell disorder patients have a defect which makes the NORMAL, HEALTHY MC be TOO REACTIVE!!   It's like a child who is hyperactive, he can't sit still and any little thing can and will distract him and get him running around.   So, this being so, these patients, since there is no clonal properties involved, don't have the same issues in that the cells are healthy, they just are waaaaay too sensitive.  Therefore leukemia and lymphoma are not a possibility nor is leucocytosis or lymphocytosis, for there is no defect with the blood making processes.   Understand?     But again, I'm totally feeling insecure about this, Kim, for I'm out of my range of studies.   So, JILLLLLLLLLYYYYYY!    Please give us a lesson in immunology !!!!!! I can only hope I've not made a mess of this Kim and am looking forward to somebody else answering this question so that I can learn too! Hugs!

Title: Re: My daughter's story Post by jbean on 04/10/11 at 12:57:10 Hi Brie, At Lisa's request, I am attempting to comment on this one.  First off, this is out of my area of specialty.  I can only offer general thoughts on this, based on the little bit that I know. Here is a good summary of the TML.  It is a bit "sciency" but I think you will get the general idea: http://www.leukemia-web.org/aml-leukemia-news/leukemia-cancer-news-0050.htm Down's syndrome can often result in other problems.  This is because there is a genetic abnormality, and it may affect other organ systems.  Your niece is probably experiencing some of these other effects.  In this article (above) they refer to the "micro-environment".  What that means is that there is a genetic mutation in some of the cells, and the cells can thus produce chemical messages that affect other systems.  In her case, it is the myeloid system. Now, is the same thing going on for Brie?  Well, as she doesn't have Down's syndrome, and her bloodwork is normal, If Brie had leukemia, most definitely it would show up in her bloodwork, I totally agree with that comment.  Any hematologist would tell you that. As for judging by her progression, that may be symptomatic as she might need certain medicines, not necessarily reflecting any cellular changes in the myeloid system. There are a variety of changes that can lead to mast cell problems.  There may be several, which overall, give the same effect.  For example, I fit some of the criteria but not others.  I don't have a cKit mutation.  I am mutated somewhere else.  Not really sure where, but this is one of the yet undiscovered areas of mastoctyosis.  Many in my family have allergies, so there may be some genetic tendency in my family to have problems in this area.  However, I am the only one with mastocytosis.  They think I had it quite awhile before being diagnosed.  I wonder sometimes if I had it in childhood.  I had very serious asthma that would not respond to anything. I almost suffocated several times.  Eventually, I "grew out of it" to the point it only bothers me once and awhile.  So, perhaps, whatever caused it was a transient thing.  This is sometimes the case for these mast cell problems in children.  They go through a rough patch (albiet it can be VERY rough at times) and still, sometimes,  the body may self-correct over time. I would talk to your docs about this if this is a concern for you.  Given that her bloodwork is o.k., she may be in  a different category.  Even if they did find something, she is doing o.k. right now, as her blood work is fine.  They would just watch her and nip anything in the bud that they find. I am monitered, as are many mast cell patients, for these types of problems.  My dad has lymphoma, so they watch over me.  However, that doesn't mean that I will necessary have lymphoma.  Genetics plays different roles of importance for different types of cancers.  Also, for some conditions, a person may carry a mutation, but it may never develop as conditions aren't "wrong enough" for it to do so.  For some cancers, it takes several types of mutations to cause an abnormality.  It is easy to over-interpret this information.  It is a complicated combination of genetics, environment, and just plain luck of the draw. I am sure that if you express your concerns, they may be able to reassure you of what needs to be done to care for Brie.  You are being a good mamma and trying to get to the root of it.  However, a lot about these diseases are still unknown. They are a good group, however, and will keep an eye on it for you.  The best thing to do is keep your communication open with them and work with them in the process.  They want what is best for Brie too.  I work with cancer docs, and I know that they really care for their little patients a great deal.  :-*

Title: Re: My daughter's story Post by Kim on 04/10/11 at 14:46:41 Lisa & Jill;         Thanks for helping me try to make some sense with all of this.  It is so very complicated and mind boggling... but I felt I needed some further information in this area.  As I said I in no way feel Brie has cancer.... but needed to make sure that I am not leaving any stone unturned as to if and how the Myeloproliferation Disorder could be related to MCAD / Mastocytosis so that if it was I wouldn't let my guard down if it came to future problems / symptoms in Brie that may need further investigation.  I appreciate you all so greatly!                                                            Thank You,  Kim

Title: Re: My daughter's story Post by Kim on 04/21/11 at 14:58:43 I know I have not posted anything for some time now.  Things have been absolutaly insane in our lives for about 2 months but seem to be slowing down finally. Brie has been experiencing a cough that is almost "spasmodic" in nature for the last 5 days.  It is strange as she seems to be doing well otherwise.  She doesn't have a fever or congested lungs or anything with it either.  She just can't quit coughing!  Her "usual" cough that I can tie to her MCAD like symptoms is barkey or croupy in nature... but this is more like her lungs spasming and making her cough.  She has not been to school or daycare all week because of it.  I took her to the Dr. and they can't figure it out either so they said it may just be "viral".... this could very well be... but I was wondering if any of you have experienced this type of spasmodic cough and if it could somehow be related to MCAD? I can say with great gratitude that Brieann has been much more stable over the last month or so.  I can't remember when she has done so well!!! I contribute this to the Gastrocrom.  I saw improvement slowly but surely.... but once she hit the 6 week mark of being on it there was such a drastic change!  She is full of energy again.  Almost all of her GI symptoms occur only occassionally now.  Her biggest symptoms at this time is continued "flushing" and back pain.  They seem to be the last 2 symptoms to improve... but they are also getting better.  I am so happy for her :) I still worry about the adrenal issue and what this means and how it is all tied together.  Hopefully Dr. Castell's will be able to shed some light on this come June.  I really have to question if this was the true cause for her Metabolic Acidosis and if this is why I see such an improvement when she is on the steroid Entocort.  I hate the idea that she may have to be on life long systemic steroids... but we will have to deal with whatever hand we are dealt once we are able to figure more out about her Adrenal issue.  It's another time for "sit back and wait".... something I don't do well :)                                                  Stay Well,  Kim

Title: Re: My daughter's story Post by judy on 04/27/11 at 13:27:36 Hi Kim,           I don't know whether you have read my son's story. Jarrod  gets a cough every year although the last 3 years it has improved. It now lasts for about 3 weeks. Before that it lasted for months. He gets it about May in his bad period. It seems to be a very dry cough that doesnt respond to anything. In the past before we were investigating masto, it has been diagnosed as sinus, virus, post virus, asthma. He would cough all the time every few seconds. He throat clears constantly too (that hasnt improved). The interesting thing is that the only peace any of us would get was when he was asleep. Sometimes he coughs that much he cant draw breath, or talk. I would describe it as a very dry cough, its got some noise to it , some describe it as a honking sort of noise, some describe it as an old mans cough. He gets very exhausted from it. It can come on with an  attack or without. Jarrod has had a couple of things show up on bloods when his in an attack, but they do resolve. They are:High platelets.                                                       High basophils                                                        High liver enzymes ( ALT, AST) I know its such a long road to get a diagnosis, we are still trying to find doctors to see Jarrod.It is so depressing. Everyone comments that they just cant understand why they just dont get it.It fits in with systemic or MCAD.I am so terribly frustrated and angry over the way we have been treated in the past. Anyway sorry for my rant I glad youre daughter seems to be improving.We have found something that works for Jarrod too. He still has attacks  and still lives with symptoms every day, but the attacks are more spaced out. Take care Judy.

Title: Re: My daughter's story Post by Kim on 04/29/11 at 12:10:51 Judy;     Thanks for your post.  Brie's cough typically gets diagnosed as a virus or questionable asthma also.  Her cough is usually a barkey / croupy cough but this one lasted 3 weeks and was just like a spasmotic cough.  It wasn't real dry... but her lungs were clear.  She was free of any other symptoms until the last 3 days.  The cough has now improved and is almost gone.  But I think her system got so worn down and now she is again reacting with the extreme irritability, full body "splotches" with some swelling and miserable itching. A few stomachaches and a headache.... it's been quite a while since she has had these other symptoms this bad.   I am so glad that Jarrod has a strong Mom such as you!  He is very lucky!  It is a long road in our search for a diagnosis and proper treatment for our little ones and it is easy to get discouraged as there is nothing worse than seeing our children suffer and feeling so helpless.  But the reality is that we are not helpless and we are doing everything in our power to help our children.  This forum and the members have been so wonderful!!!  They have helped guide Brie and I through every step of this and given us guidance and support along the way.  I know we would not be where we are today if it wasn't for the love and support of everyone involved in this forum.  And we are grateful to all of you and hope that we can be of help to you and Jarrod through his journey also.                                                                           Kim

Title: Re: My daughter's story Post by Kim on 06/08/11 at 14:29:47 It seems like forever since I have been on this forum.  I have not forgotten any of you and hope all is going well.  I have thought of all of you often and wondered how you are all doing.  I will have to do some serious reading to play catch-up! When I haven't been at work I have been dealing with some serious family issues or been out of town.  We have had 3 family members dealing with life and death issues for over 2 months now. I just wanted to let you all know that Brie and I are still pursuing her journey.  She had been very stable for about 2 months - thanks to the addition of Gastrocrom to her medication regime.  Even she identifies this and asked to send a "thank you" to the Dr. her put her on the medication  :) Just in the last few days she has developed some new symptoms... not sure how or if they are related....  She now has 2 lumps on the back left lower side of her head.  They initially thought it was a bone tumor but an x-ray ruled this out.  She has seen 2 doctors for it and they are both baffled.  Neither one has biopsied these areas and I don't think they will... although it was mentioned by one of them.  One now thinks it is lymph nodes being inflamed and the other now thinks they are calcified cysts. She also has 8 strange skin growths on her scalp.  They are up higher than the 2 lumps on the head and they protrude from the scalp and look like "fatty tissue" ... for lack of a better description coming to me. Neither Dr knows what this may be either but the Dermatologist feels it is a virus and she "froze' these today and we will wait to see what happens to these skin growths and the lumps on her head. Thank God we are now only 3 weeks away from seeing Dr. Castell's in Boston!  Hopefully she will be able to tie everything together for us and help us get on track with all of this and with pursuing Brie's adrenal gland issue and lack of cortisone.... along with her extensive symptomology. Well, although things still have not calmed down on this end and probably won't for awhile I just wanted to stop in and say high to all of you and update you on Brie and the reasons I have been away from the forum.  It's not that I don't want to be here as this forum has been my life preserver for many months now!!!!                                                           Take Care,  Kim

Title: Re: My daughter's story Post by Joan on 06/08/11 at 16:54:56 Hi Kim and welcome back!  Sorry about your family's troubles   :-[   I have no idea if they're the same thing, but my husband just went through a few weeks of having lumps under his skin.  They did feel like fatty cysts, but they were angioedema.  He'd get one or two and then a couple of days later those would go away, and it would pop up elsewhere.  He had them on the back of his head, on his legs and back.  It was very strange.  Apparently, some people get them and they stay for a while. I hope the visit to Dr. Castells gives you some answers and a treatment plan!  Be sure to ask how to contact her if you have questions after the visit!

Title: Re: My daughter's story Post by Kim on 06/08/11 at 17:12:24 Thanks for the response Joan.  Can you tell me how the decided it was angioedema?  Brie does have problems with angioedema but it is mainly around her eyes or somewhere on the face and it appears in a generalized area and has never been in the form of "lumps:.  Did your husband have any biopsies of these areas?                                                                Thank You,  Kim

Title: Re: My daughter's story Post by Lisa on 06/09/11 at 09:08:14 Hi Kim!! I was hoping your absence was good news in that Brie was doing better.  Im really glad to hear that she has been!  You were in a really tight spot with her 6 months ago!  I'm sorry to hear about your family, however.  It's hard having to juggle it all by yourself! I wish I knew about those lumps, but I don't.  Sorry!! Give Brie a hug and my very best to you, my friend! Lisa

Title: Re: My daughter's story Post by Kim on 06/20/11 at 16:33:41 Our dates got moved up a week so that Brie can see a Pediatric Immunologist and Hematologist and have a Bone Marrow Biopsy.  The good news is that the Biopsy will be done under Anesthesia at the Bostons Children Hospital, We leave tomorrow!!!! We will be back on July 3rd - I will let you know what we find out.

Title: Re: My daughter's story Post by Lisa on 06/20/11 at 17:40:23 FINALLY!!!!!!!!!!!!!!!!!!!!!!!!!!!! THIS IS INDEED TREMENDOUS NEWS!!!!!!!!   CAN'T TELL YOU HOW HAPPY IT MAKES ME!!   YIPEEEE!! Tell Brie that all of us are praying for her, and of course, Kim, you are most definitely in all of our prayers for this trip!!! Please do let us know, for I, for one, will be quite anxious to hear how it all goes!!! BIG HUGS TO YOU BOTH!!!! :-* Lisa

Title: Re: My daughter's story Post by Joan on 06/21/11 at 07:34:17 Hi Kim,   My husband's bumps weren't biopsied, I think because they each only lasted a day or two.  They'd disappear and then a few more would pop up somewhere else.  A dermatologist, an internist, and an allergist looked at them and all agreed they were angioedema.  He'd had this about 10 years ago, and an antibiotic seemed to help, but now we wonder if this just came and went mysteriously both time and the antibiotic didn't really have anything to do with it.   I had an anesthesiologist in Denver who had trained at Boston Children's Hospital, and he was very knowledgeable about mast cell disorders, so she should be in good hands.  I think you've already read these, but if you haven't, do read the TMS guidelines, meds to avoid, and pre-procedure protocols for surgeries.  Pre-medicating is very important.   I am so hoping you'll get some answers finally.  This has been too long for all of you!  What a great Mom you are!

Title: Re: My daughter's story Post by Kim on 07/01/11 at 05:34:56 Well it has been a very busy couple of weeks here in Boston.  Brie has been such a trooper through all of this.  We arrived in Boston a week ago Tuesday in the evening.  She thought the plane ride "felt like being up in Heaven."  She had long days at the Boston Childrens Hospital on Wed., Thurs, and Fri.  She was seen by several different Specialists during that time (Allergy/Immunology; Hematology;  Dermatology and GI).  They were all so very thorough and very kind... we loved every one them.  We spent a minimum of 1 3/4 hours with each one of these specialties.  They worked very hard in gathering all history and looking at other possibilities for Brie's issues.  They will be the hospital / doctors to do the Bone Marrow Aspiration and all verbalized great concern with doing this and setting off Brie's Mast Cells so they wanted to leave the final decision for Dr. Castells. We tried to do some touring of Boston in the evenings.  She was free from appointments on Sat., Sun. and Mon so we got out and about a lot during that time.  On Tuesday we saw Dr. Castells.  This visit was very rushed but pretty thorough and to the point.  To sum it up she feels Brie definitely fits the diagnosis for  Mast Cell Activation Syndrome.  This would fall under one of three (Mastocytosis; Monoclonal Mast Cell Activation Syndrome or Mast Cell Activation Syndrome).  If she has any of these the last one is the one we hope she has as this is the noncancerous form and has a possibility for her to go into remission sometime around puberty.  If it turns out to fall into one of the first 2 then this would require Chemo drugs as they are a form of cancer. Although this disease is very rare it would be even more rare for her to have one of the first two... although Dr Castells says that her symptoms do fit those categories so she called the other docs and informed them that we are going to do the Bone Marrow Biopsy. On Wed. we spent all day up at the Children's Hospital doing all of the Preop tasks.  Since Brie is a high risk for being put under with anesthesia it was decided that she will have several procedures done at the same time so she will not have to be put under more than once.  They coordinated upper and lower scopes, biopsies of the scalp growths and the Bone Marrow Biopsy to be done by all docs together.  She had a VERY rough evening Wed as she had to be prepped for the upper and lower scopes and she was unable to hold down the drinks that she needed to clean her system out.  The poor thing spent 5 hours trying and 5 hours vomiting! I figured there was no way they were going to get a look at the colon. She had all of the procedures done Thursday.  They premedicated her with Dr. Castells protocol so that it lessened the chance of activating her mast cells.  She has not done as well as usual since we left Rapid City so I was a little nervous.  She displayed minor symptoms both in pre and post up and then once she was admitted to the floor but they were able to keep it all under control with medications.  It was nothing like her history of reacting in the past (when she was not on medications as we had no idea back then)... so I was very pleased as to how this all went.  The GI doc almost did not do the scopes as Bries cortisone level is very low but he deferred the decision to the Anesthesiologist (she had 2 of these due to her situation) and they assured all involved that they felt confident they could control whatever happened... and a marvelous job they did!!  They are the ones who said she would have to be kept overnight in the hospital to be monitored for any further problems.  She has only had mild symptoms although she has been sleeping almost constantly (which in itself is one of her symptoms). Some back pain from the BMB but this is controled pretty well with over the counter pain meds. We think she will be discharged yet today and we will lay low in the hotel and fly back home Sunday.  Brie is so ready to get home as she "misses her grandma and can't even remember what home looks like."   Now it is time to sit back and wait patiently as all biopsies and special stains won't be back for 2 to 3 weeks so it may be a month before we have any answers. Dr Castells will then follow Brie every 6 months to 1 year and she will work with Bries doctors back home to help with her medications, ongoing care and the need to pursue answers to her Adrenal Gland issues. So glad to have this part of things behind us... some answers coming... and a plan for the future can then be made.                                                                                                                                                                                Kim

Title: Re: My daughter's story Post by Riverwn on 07/01/11 at 06:16:28 Hi Kim! Im so happy the hardest part is behind Brie. Just wanted to let you know Im thinking of you both, give Brie a hug from me and know you are both in our prayers :) love Ramona

Title: Re: My daughter's story Post by Joan on 07/01/11 at 08:29:02 Hi Kim,   So happy to hear that the testing is finished and that Brie made it through very well!  I hope you get good news and that Dr. Castells can help get her symptoms under control.   You've been amazing and your persistence is paying off.  At least she now has been seen at the best in the country and is getting expert advice.   Keep us posted!

Title: Re: My daughter's story Post by Lisa on 07/01/11 at 11:01:02 YAHOOOOEEEEEEEEE!!!!!!!!!!!!!!!! THIS IS THE VERY BEST OF NEWS!!!!!!!!!!!!   YIPPEEEEEEEEE FOR BRIEEEEEEEEEEEEEE!!!!!!!! HORRAY FOR KIMMMMMMMMMMM   MOMMY OF THE YEAR!!!!!!!!!!!!!!! [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif] [smiley=vrolijk_26.gif]

Title: Re: My daughter's story Post by Kim on 07/01/11 at 11:19:56 The credit here belongs to all of you!!! (not me)..... thanks for this forum, for each and every one of you sharing your experiences and advice, your love and support and all of the direction and guidance and persistant "pushing" :) to get Brie and I where we are at today.... this would have never happened if I would not have stumbled across this forum almost a year ago as I had no idea where to find the resources and specialists (even after over 6 months of searching for it on my own).  We love you all!!! ;D

Title: Re: My daughter's story Post by Kim on 07/08/11 at 18:40:11 The Doctors from Boston are very concerned as Brie's Cortisone level has dropped to 0.6 (it was 5.9 two months ago when she failed her 1st Addrenal Stimulation Test).  They called me and asked that I notify her Endocrenologist immedietaly so that a plan can be developed as to how to deal with this as they say "she will get sick... and sick fast... and needs an immediate response."  Her Endocrinologist got back to me today and they are going to schedule the 2nd Adrenal Stimulation Test hopefully as early as next week.  This one will be with the 250 mcg of medication versus the 1mg.  This is very scary as she reacted to the 1mcg in the past... but they will hospitalize her for this and they will pre-medicate her with Dr. Castell's protocol so hopefully nothing serious happens.  I will update again when we know more.                                                                         Kim

Title: Re: My daughter's story Post by Lisa on 07/09/11 at 03:13:53 Kim, I can't tell you how relieved and thankful I am that you got up to Boston IN TIME!!   Your doctors would NEVER have been able to figure this out without the help of those doctors there for the masto is a definitive part of all of this and without looking at the WHOLE PICTURE they could never figure out the finer details of it all!!   Please tell Brie that I'm praying for her, and know that I'm here and are the others here to SUPPORT YOU and to STAND WITH YOU on this!  I know that all of us are praying for not just Brie and you but also for her doctors so that they will gain understanding and enlightenment as to how to deal with this and help Brie!! Keep us updated as to what is happening here, PLEASE!!!   I WANT TO KNOW!! Hugs and Kisses!! Lisa

Title: Re: My daughter's story Post by Ccc on 07/13/11 at 21:03:58 The active chemical of 5mg of xyzal is found in 10 mg of Zyrtec.  That 's because Zyrtec has another 5 MHD of another ingredient that can make the 'xyzal' portion less effective.  Just about the time Zyrtec went OTC, prescriptive xyzal was introduced. Zryrtrc/xyzal addresses allergic reactions in 3 ways while allegra addresses them on two ways.  I can't be more specific but I do remember allegra never working for me and the immunologist needing to write a note to the insurance company to get Zyrtec as a 3rd tier 'script. Do look onto EDS.  Remember it is a genetically based collage disorder. If you have relatives who havd been dx'd with fibromyalgia, that is another clue (older un-dx'd EDSrs many times r dx'd w/ fibro). You might look into Vit D deficiency.  Some symptoms you list seem to lean towards this.  Good healthy levels of Vit D seems to modulate the immune system.  Both my daughter and I saw a great improvement in our allergies and asthma once our Vit D levels were raised.   Low iron and not processing calcium is likely with the no-acid environment being presented by the Priolosec.  Prilosec is stronger and should not be taken more than two weeks.  Doctor's prescribe this like candy.Older people don't understand that they put themselves at risk for gastric tumors. Gastric reflux can be created by both under, normal and over production of stomach acid.  Something structural might relax the lower esophageal sphincter letting acid into the esophagus. In the case of low acid GERD, when a person will eat something, particularly a dense protein, gastrin releases to stimulate cells lining the stomach to secrete acid for digestion.  Gastrin also has the side effect of relaxing the LES.  so somtimes people, and MDs, take acid reducers for the wrong thing. Bromelian reduces stomach inflammation and helps digest foods (it's proteolytic).  You might look into multi- enzymes to aid in digestion. Many MDs suggest a probiotic as a way to prevent bacterial overgrowth of the colon/small intestine.  It's best given on an empty stomach. I remember these were prescribed in Europe whenever an antibiotic was prescribed.... The was early to mid 1980's... Interesting, eh? You might want to look at Ferrochel by Albion.  It's a chelated iron that causes the least amount of gastric upset (many iron supplements are very rough on the stomach) and has a better absorption rate due to the chelation (bound to an amino acid). As always, do your research and work with your MD.  These are in no way recommendations for self treatment.

Title: Re: My daughter's story Post by Kim on 07/15/11 at 15:30:34 The good news is that Brie's BMB & GI Biopsies are negative for Mast Cells so the Dr.'s feel pretty confident saying she does not have Mastocytosis.  We are left with the diagnosis of MCAS and the Dr.'s will continue to follow her and her symptoms.   Her colon is still filled with Lymphoid Hyperplasia but they do not know why this is.  It can at times be found in healthy children or Immuno Deficiency but so far Brie does not show this. We are left with "Ideopathic" Urticaria and Angioedema.  She also is now testing positive for some allergies to dogs, cats, mold, pollen and grasses but this does not explain why she reacts some times to cats and dogs and other times not, or why she reacts when not around these or when she reacts all year round versus seasonally, etc.   They want us to continue to pursue the GI issues and she will have to have an MRI of the colon and abdomen under anesthesia.  Their biggest concern right now is the Arenal Glands and Cortisol level of 0.6.  Her local Dr.'s are still scrambling to get all of the Boston records they need to to coordinate with our local hospital to do further testing for this and the MRI.  Sounds like Brie will be hopitalized for a couple days next week or the week after to accomplish this. I will update when I know more or have some results.                                                                  Hugs,  Kim

Title: Re: My daughter's story Post by judy on 07/15/11 at 17:49:59 Hi Kim, That's great news about the bone marrow, we are supposed to be getting a BMB for Jarrod. Just playing the waiting game at the moment, which is driving me crazy. Jarrod has had two skin prick tests which were very significantly different. The first one said he had a lot of positive allergies to grasses, pollens cats etc. The next one said he didn't have any. And like Brie has reacted to something that says he should't. I myself am wondering if it has anything to do with how full the histamine bucket is at the time. Anyway hoping everything goes alright for you both, I am following your story with interest. Judy

Title: Re: My daughter's story Post by Kim on 07/16/11 at 08:30:42 Hi Judy; Thanks for letting me know about Jarrods allergy testing.  That is interesting how he had 2 different results.  I have been wondering if I should have brie go through a complete skin prick test.  The allergy testing they did was through blood work.  I also am curious if people with MCAS can go through the allergy shots - I would think this would cause problems for them by introducing high levels of the allergens and setting off the mast cells.????  I will have to research this some more.                                                                           Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 07/16/11 at 09:22:45 I had an allergist tell me that he could not do skin prick testing on me due to my mast cell condition. Only the blood testing....

Title: Re: My daughter's story Post by Kim on 07/16/11 at 11:09:09 Deb; Thanks for the information.  That makes total sense.  I guess that is why they did Brie's by blood testing.  So I would assume a person with MCAS can't do the allergy shots either then?                                                         Kim

Title: Re: My daughter's story Post by DeborahW, Founder on 07/16/11 at 11:24:26 Well, I have either IA or MCAS, and there is no way anyone could drag me into a room to have allergy shots! LOL I think the phrase, "over my dead body," would become literal! Haa

Title: Re: My daughter's story Post by NZNancy on 07/16/11 at 13:55:13 A small correction about histamine. There is only one kind of histamine. There are at least 4 kinds of histmine receptors, located in various cell types throughout the body. In the skin, for instance, flushing and hives and probably itching are caused when histamine attaches to H1 and H2 receptors. The receptor type is what dictates the response to histamine being present.

Title: Re: My daughter's story Post by still seeking on 07/16/11 at 14:34:18 Hi Kim, I am just reading your daughter's post.  We too have traveled similar paths as you.  Our 11 yr. old daughter, Rylee, was just diagnosed in June 2011 with MCAD at Cincinnati Children's Hospital.  We live in North Carolina but we finally ended up with specialists in Cincinnati.  Anyway, since we have returned home to NC, Rylee's doctor in Cincinnati has ordered a Cortisol level twice.  Both times they have been low.  On Friday, they drew it again and it is 1.9.  Her doctor is out of town and we have to wait to Tues. to speak with him.  We have no idea what is going on.  As well, her liver enzymes are elevated.  Her ALP is more than twice the normal high.  She has some type of eosinophiliac disorder but they are not sure if the eosinophils are elevated due to the mast cell issue or vice versa.  Any info at all that you can pass our way would be helpful.  Over the past few weeks, we have appreciated so much the support of others on this forum.   Until tonight though....haven't read anything from anyone else regarding low cortisol levels.   Will put Brie on our prayer list at home.....look forward to hearing from you as you have time.   God bless, Angie (Rylee's mom)

Title: Re: My daughter's story Post by NZNancy on 07/16/11 at 18:04:54 still seeking, About mast cells and eosinophils, each of these cell types secretes molecules that attract and activate the other, so they are very often found together. If your daughter is having symptoms that look like respose to histamine, etc, from mast cells, it could be due to some initial problem that caused elevated eosinophils, and these brought along the mast cells. I'm glad you are having her seen at a place where they can sort out the low cortisol levels. This is not a result of any mast cell involvement, and it's well outside my area of knowledge. Until you have answers, treating your daughter's symptoms should help her stay somewhat comfortable. Be sure that none of the medicines you give her will increase the stress on her liver. The pharmacist should be able to help you with this.

Title: Re: My daughter's story Post by judy on 07/16/11 at 18:32:36 Hi Kim, Allergy shots were considered for Jarrod but not until his headaches and other symptoms were diagnosed , sorted out. The headaches were there because of all  the histamine. Anyway that was before we were on the masto trail, now knowing all we know I'm sure they would not help at all because of the two significant results. I don't think allergies are to blame at all. Just my thoughts anyway. Good Luck Hi Angie, Jarrod has had elevated liver enzymes before once, but they did resolve. ALT and AST. Judy.

Title: Re: My daughter's story Post by judy on 07/16/11 at 19:11:52 Hi Kim, Sorry to bother you again. Can I ask how much H1 and H2 is Brie on. We don't have a specialist so we are doing all this ourselves. With Jarrod being a child it is hard to compare. Jarrod is on telfast 180 twice a day, Zantac 1 twice a day and singulair 5mg once a day. We did notice a difference when we upped the zantac from half twice a day to one twice a day. My doctor is not much help at all because he just goes by normal amounts for normal people. Thanks Judy.

Title: Re: My daughter's story Post by still seeking on 07/17/11 at 05:01:49 NZNancy, Thank you so much for your response.  I will talk with the pharmacist to ensure that the medications Rylee is taking is not putting additional stress on her liver.  If you don't mind will you elaborate on your last post to me?   I copied and pasted your comment below.  What type of initial problem could have caused elevated eosinphils that brought along the mast cells??   "About mast cells and eosinophils, each of these cell types secretes molecules that attract and activate the other, so they are very often found together. If your daughter is having symptoms that look like respose to histamine, etc, from mast cells, it could be due to some initial problem that caused elevated eosinophils, and these brought along the mast cells." Angie

Title: Re: My daughter's story Post by Kim on 07/17/11 at 11:12:18 Judy; It's been a busy weekend... I will respond to your posts further as soon as I can but I wanted to send you a list of Brie's current meds at this time: Ferritin 45mg every morning Loratadine 10mg every morning Zantac 75mg BID Singulair 5mg at Bedtime Entocort EC 3mg take 1 tab twice a day Gastrocrom 100mg QID (1/2 hour before meals and at bedtime) Flovent 110mcg 2 puffs twice a day                                                                        Kim

Title: Re: My daughter's story Post by NZNancy on 07/17/11 at 12:05:22 Angie, to elaborate on the eosinophil/mast cell quote - We don't know what causes eosinophils to accumulate in people with eosinophilic esophagitis/gastritis, but we know that in those people, an increased number of mast cells will usually also be seen in the tissues. I think the most active research center is Cincinnati Childrens Hospital/Clinic, so you are headed in the right direction to get the help you need for your daughter. Nancy

Title: Re: My daughter's story Post by Lisa on 07/19/11 at 06:41:04 I saw a Medscape report on Eosinophilic Esophagitis and it posed a genetic mutation as the cause here.  It's probably the same issue with the eosinophilia which happens in the instestines as well. Pathogenetic Mechanisms: More Pieces to the Puzzle The most significant recent finding is the recent association of EoE with a common variant at 5q22 locus that encompasses TSLP.[31••,32] TSLP is overexpressed in the mucosal biopsies of patients with EoE and may offer an etiological clue to the underlying pathogenesis in some patients. TSLP is an epithelial derived IL-7-like cytokine which can activate a number of immune cells, in particular dendritic and mast cells, and is related to allergic disease such as asthma. A number of studies have begun to describe the immunological milieu of the esophageal mucosa affected by EoE. Although eosinophils are the most prominent leukocyte associated with EoE, recent studies expanded our narrow view of the esophageal mucosal surface. Mast cells continue to be associated with inflammation in EoE. Dellon et al. [33] measured tryptase staining in 54 adults with EoE and compared them to 55 with GERD. They determined that the tryptase-positive mast cells were significantly increased in the epithelia of EoE patients compared to GERD. Abonia et al. [34] found similar results in children with EoE and reported increases in mast cell carboxypeptidase and tryptase but not chymase, findings that normalized after topical fluticasone treatment. Along these lines, Yen et al. [35] found significantly greater FceRI expression on epithelial cells in EoE children compared to those with GERD and normal controls suggesting a role in IgE-mediated activation. In a series of articles from Nadeau et al., the role of other T cells in the squamous mucosa and peripheral mononuclear cells in EoE has been examined.[36–38] Real-time analysis of peripheral mononuclear cells from 35 children with EoE was compared to eight with GERD, 10 with IBD, and eight healthy controls. EoE patients had significantly more ERK, Bcl-2, bFGF, and eotaxin compared to controls.[37] Further studies identified increased numbers of Tregs (FoxP3 expression) and HLA-DR expression in the affected EoE mucosa.[36,38] Together, these studies continue to define the microenvironment associated with EoE. More mechanistic studies performed in murine models and ex-vivo human models are identifying key roles for epithelial derived such as IL-13 and IL-15 in initiating and perpetuating esophageal inflammation.[39–41] For instance, tissues from EoE patients were shown to demonstrate increased expression of IL-15 and IL-15r a finding that correlated with mucosal eosinophilia.[39] In a murine model of EoE, IL-15r null mice were protected from eosinophilia. Ex-vivo analysis of murine and human esophageal cells identified an increase in eotaxin-3 following IL-15 stimulation. Together, these findings support a role for IL-15 in the generation of this mucosal inflammation. Finally, Aceves et al. [42] brought new light to not only the esophageal milieu but also more importantly to functional elements that may contribute to EoE's clinical features. They continued along the lines of their previous work that supports a role for TGF-beta in remodeling events in EoE. Results from an ex-vivo human model system support a role for mast cells and TGF-beta in esophageal smooth muscle contraction. http://www.medscape.com/viewarticle/744685_7

Title: Re: My daughter's story Post by NZNancy on 07/19/11 at 12:18:08 THanks Lisa, that is a very interesting bit of in formation. Could you look at the article and tell us what institution the authors are at? Maybe they are part of the Cincinnatti group? One note, these people didn't identify a mutation: "association of EoE with a common variant at 5q22 locus" Genes are often made slightly differently in different individuals; when a specific change in construction of a gene is found commonly, it is called a "variant". These people found more TSLP than expected in patients with EoE, which led them to look at the gene for TSLP and found that a particular construction of the gene was found often in people with EoE. The mast cells found here will have been attracted by the eosinophils rather than being the primary cell causing inflammation. The authors mention that IL-15 receptor is found in greater quantity than normal in people with EoE, which makes me wonder if someone might be working on a therapy to block the IL-15 receptor, which should result in decreasing the number of eosinophils (thus mast cells also) in the affected tissues. Nancy

Title: Re: My daughter's story Post by Lisa on 07/20/11 at 01:51:12 Authors and Disclosures Glenn T. Furuta Digestive Health Institute, Section of Pediatric Gastroenterology, Hepatology and Nutrition, Gastrointestinal Eosinophilic Diseases Program, The Children's Hospital, National Jewish Health, Mucosal Inflammation Program, Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, Colorado, USA Correspondence to Glenn T. Furuta, 13123 East 16th Ave., B290 Aurora, CO 80045, USA Tel: +1 727 777 7457; fax: +1 720 777 7277; e-mail: Furuta.Glenn@tchden.org

Title: Re: My daughter's story Post by NZNancy on 07/20/11 at 12:35:56 Great, Lisa, thanks. So University of Colorado is a good resource for eosinophilis esophagitis! I hadn't known that. Nancy

Title: Re: My daughter's story Post by Kim on 07/22/11 at 22:15:05 Needing some input.... Ok... so Brie tested negative for Mastocytosis and Monoclonal MCAS which is wonderful news in itself.  We are left with a a diagnosis of MCAS. But I have some unanswered questions that I can't make heads or tails of.  I just received some of her records from Boston and I do not know what the results mean....... or even if they are significant at all. The bone marrow biopsy results state "The bone marrow was slightly hypocellular for age with rare mast cells by stains / immunohistochemistry, not consistent with systemic mastocytosis.  PCR from bone marrow aspirate and peripheral blood were negative for the Kit Asp816Val mutation. A small number of mast cells were identified in the bone marrow aspirate, a subset which showed expression of CD25, without CD2 co-expression." From what I can understand from personal research is CD25 can be related to autoimmune, leukemia / lymphoma, or mastocytosis - but apparently there wasn't enough of this for any diagnosis or concern (but should this be monitored for an increase down the road) Should it be present at all??? And what does it mean when they say "without CD2 co-expression"?? Thanks for any advice, insight or help you can offer me here.                                                                      Kim

Title: Re: My daughter's story Post by Lisa on 07/23/11 at 03:57:03 Hi Kim! My first bit of advice, please send this report to Dr. Castells and ask her exactly what this is saying.  Keep sending emails back and forth questioning about all of this until you have resolved your doubts.  This is the beauty of having gone to Boston - you have expert advice and understanding. Now that having been said, my bone marrow was also found to be hypocellular.  Why?  I've not found an answer yet.  We also found scarce Mast cells but I've not had the detailed investigation that Brie had.  The few MCs we found were CD25 negative.   CD25 positive is diagnostic for mastocytosis, or let me say this - supposedly only in mastocytosis will the mast cell produce a positive marker for CD25.  But to call it "mastocytosis" may not be possible for there's not enough to be "diagnostic" for that diagnosis, which means that it's a finding, but not enough for the diagnosis. I've seen other masto patients who were found with spindle shaped mast cells within their marrow, but because they didn't have enough, the lab finding didn't "diagnose" it as mastocytosis!  It only reported the finding, but gave no conclusions.   So, I think that for this reason your lab report gave the report of the finding, but could not give any conclusions as to what it was.   This is why you should speak with Dr. Castells until you can gain full understanding of what this is truly saying here.  Ask her for a phone consult, Kim, and get her understanding of what exactly is being said here.   It's important that your doctors and you have no doubts! One thing that is the real blessing here - you no longer need to search any more!! YOU'VE FOUND YOUR ANSWERS!!   You've got a diagnosis and you and your doctors can put to rest any more doubts as to what is wrong with Brie!!   WHAT A BLESSING! :) I hope this helps! Lisa

Title: Re: My daughter's story Post by Kim on 07/23/11 at 07:39:31 Lisa; Your response was helpful as you said perfectly exactly what my thoughts were.  I just wasn't sure if how I interpreted it was accurate and hearing my thoughts in your words tells me what I need as you have always been a tremendous and accurate source of medical information for me. Dr. Castell's asked me to set up a phone consult for 3-4 weeks after our trip to Boston but when I called to set this up they said she had left the country and won't be back until August 23rd so I have a long wait and anxiously wanted some input prior to that time so I decided to see what all of you thought.                                                   Thank You!  Kim

Title: Re: My daughter's story Post by Lisa on 07/23/11 at 12:07:57 Understood, Kim!! Look, you've got experience with these doctors now.  If there was something exceedingly disturbing there, THEY'D LET YOU KNOW!!   Just as they did with Brie's cortisol testing, right?   So, be at peace.  If it were something really bad, THEY'D BE HOPPING ON THE PHONE TO YOU TO GET BACK THERE!!! BE AT PEACE!!!   It must not be really bad.   Hugs!! Lisa

Title: Re: My daughter's story Post by Lisa on 09/03/11 at 05:00:14 Hey Kim!!! Things are nice and quiet with you!!!   How nice!!!  It must mean that Brie is doing better!! How's she doing and HOW ARE YOU??? :-* LISA

Title: Re: My daughter's story Post by Kim on 09/03/11 at 11:11:46 Wow Lisa it's been a long times since I have even been on the forum. You must have deep down known that Brie was in trouble when you were thinking about her and typed me your latest message as I wasn't home 10 minutes from taking Brie to Acute Care when I saw your message!  Must be that "connection" we have :) I wish "quiet" meant things were going well.  But unfortunately that is not the case.  I have been out of town most of the summer due to family emergencies. Seven extended trips so far!  My Mom is having significant heart issues. Have a great niece that has been hospitalized since birth 5 months ago.  Have a sister fighting for her life these last 5 months..... the Dr's can't believe either of them are still with us.  They are fighters!!!! Also spent 2 weeks in Boston with Brie.  Wonderful place and wonderful Dr.'s and Childrens Hospital!!!!  Can't say enough about how great they all were.  Very thorough and caring.  We are left with MCAD.... thank God it is not Mastocytosis as they said she would have to go on Chemo if that was the case.  Brie did very well with the "gallons" of blood draws, the bone marrow biopsy and the upper and lower scopes, etc.  She is also a fighter!   Brie also is not producing Cortisol and has Addrenal Insufficiency.... which is almost scarier to me then the MCAD at this point.  We now carry an epi pen and Solu Cortif emergency injections at all times.  They do not know the cause of her Addrenal Insufficiency but are thinking that it may be a result of the Entocort / steroid she was on for almost 1 1/2 years.  This sounds possible but one red flag here is that Brie was hospitalized for severe metabolic acidosis in Oct. 2009... and this is now thought to have been an Addrenal Crisis now that we know much more than we did then.... and this occurred 5 months BEFORE being put on the Entocort.  She's been off the Entocort for a month now and unfortunately all of her symptoms that had been quite stable for almost 4 months have progressed again.  She is still on all of the H1 & H2 blockers and the Gastrocrom and her local Dr.'s are working with Dr. Castell's to increase her dose of Gastrcrom to see if this will help since we lost ground not having the Entocort on board. She went into Addrenal Crisis this morning and I rushed her to the Acute Care.  She received her 1st emergency cortisol shot.... but unfortunately probably not the last.  She has an ear infection (but no pain or anything so we weren't aware of it) and this is what set off the Addrenal Crisis.  Pretty scary how quickly she gets sick and how fast it progresses.  The shot turned her around in about 2 hours time and she was like a new kid! I hope you are doing well and having a good school year!                                                                 Hugs,  Kim

Title: Re: My daughter's story Post by Lisa on 09/05/11 at 07:22:50 Well, I´m REALLY sorry to hear how things are going, Kim!!  I was hoping that no news was good news!!!   I can´t imagine the emotional stress it´s causing you and your family.  It´s hard enough having your sister in trouble but to have your mother as well and a niece on top of it!! YIKES!! Listen, Kim, as to your Mom and sister, I don´t know how close Brie is to your sister, but I have NO DOUBTS that she´s close to your Mom.  Kim, if you are feeling stressed, just imagine that going on in Brie and multiply it by 100 and this is what you will get if and when your mom passes away.  I´m not saying anything about that happening any time soon and I certainly hope it doesn´t, but if it should you´ve got to know ahead of time and PREPARE for what can happen.   Kim, our emotions can create real havoc within us. I know you´ve seen Brie go through temper tantrums, but crying can create problems too!  I was amazed when I heard some bad news a little while ago and it got me doing some heavy crying and low and behold I found myself right on the edge of anaphyalxis!!  I hadn´t realized that crying and the emotions that would provoke it could push us over the edge, but it taught me that it´s serious business.   If your Mom is having serious problems and is in serious danger, Kim, then, you need to prepare for the worst so that when Brie gets the news, you´ve got some back up meds to help deal with the triggering it´s going to cause.  Ask your doctor for some kind of sedative which will not knock her out, but only take the edge off of her emotions, especially in the beginning right after she gets hit with the news.  You already will have your hands plenty full dealing with your own feelings and having your other two kids to also have to consider the very last thing you need is to be rushing Brie to the hospital on top of it all!!    So, consider my advice here, for her sake as well as your own, to have some pediatric strength meds just in case.  I´m praying you won´t need them for some time way distant in the future, but you should have something to help keep her calm in case this happens.  It´s just preventative medicine against the anaphylaxis it can cuase her.   I´m sorry to hear about the adrenal crisis!  This is another reason why you need to be prepared if your Mom should pass, for all of this is going to go haywire with Brie´s emotional response.  You should also let your doctor know of what is happening so that he´s also aware of how to respond. Yes, Kim, we do and can get sick really quickly!!  This is part of what leaves us patients on edge, for we can be perfectly fine one moment and the next our world turns upside down!  It´s hard to feel secure this way!!!   But thankfully, you´ve gained so much understanding and your very hard work has finally payed off!!   YOU´VE GOT ANSWERS and this is PERFECT!!! So, I´m sorry things are not well with you all.  Again, I´ll keep you in my prayers and hope that everything improves quickly!!! Hugs to you!!!! Lisa

Title: Re: My daughter's story Post by Kim on 09/19/11 at 04:35:22 Brieann woke up yesterday with her now 9th episode of the Neutrophilc Eccrine Hidradenitis on her fingers and palms.... Geez I wish the Dr.'s could tell me how this is related!!!                                                                 Kim

Title: Re: My daughter's story Post by Lisa on 09/19/11 at 05:45:45 Have you asked Dr. Castells about this?   I'll bet you anything it's connected for the little bit I just read does say that it's been associated with other neoplastic diseases.  If you will note, they state that it's mainly been associated with AML.  Well, the aggressive form of masto, which is very, very rare, is indeed found with myeloproliferative leukemia and since the mast cell is a cell which comes from the myeloproliferative chain of blood cells, I'll bet that there is a specific genetic defect which reveals this and is connected to it, Kim.  Yet, because they've not pinpointed the genetic defects for either disease yet....you go with only having guesses to go upon!  So, I'll bet you've got a piece to the bigger puzzle in Brie's case, YES! Neutrophilic eccrine hidradenitis (NEH) was initially described in acute myelogenous leukemia (AML) patients undergoing chemotherapy.[1] Neutrophilic eccrine hidradenitis has since been reported in persons with various neoplastic and nonneoplastic conditions and in otherwise healthy individuals; however, most documented cases have continued to be observed in the setting of AML, usually in association with chemotherapy; http://emedicine.medscape.com/article/1070937-overview

Title: Re: My daughter's story Post by Kim on 10/03/11 at 16:46:08 Lisa;  sorry I have been absent once again from this forum.  I truly can't believe how much God has handed me this last few years... manily the last year I find I don't even have time to breath anymore between family crisis's.  Anyway thanks for your response.  It's been about 1 1/2 years since I have done any MAJOR research into NEH and yes, I found the same information you did.  That is what I brought up to her Dr.'s and they and Mayo both did what they could to check for some form of AML and so far Brie is not showing any signs in that direction.  But we all do wonder what her future holds.  The "genetic" aspect got me thinking though.  Even if they can't find any sign of AML maybe we do need to look into the genes a little more.  Boston did quite a bit of genetic testing and again NOTHING.  We still have not seen the Genetisist as her 1st appointment I had to cancel when Boston called us there a week earlier than expected.  We then had to wait another 3 months and then he needed to cancel for some reason. Since he only comes to our city every 3 months we are not scheduled until December.  Hopefully by the time that appoinment comes along I will remember to mention this point to hime ;) Brie is stabilizing some since we increased her Gastrocrom.   Hopefully this porgress will continue.  We still have some increases we can make in the Gastrocrom and I foresee this will probably be needed but right now she is maintaining fairly well.  We see the Endocrenologist next month and will hopefully know a little more about where Brie is at with the thought of growth hormones and the Cortisone levels. I will update more when I can.  Thanks for always thinking of us and being so concerned and helpful.  I hope you and yoru family are all doing well.                                                                                     Kim

Title: Re: My daughter's story Post by still seeking on 10/04/11 at 05:34:25 Hi Kim, So good to see you on the forum.  I have been thinking about you and Brie.  Rylee knows that Brie and Jarrod (Judy's son who is 12 yrs. old) all share similar issues.  I received a message from Judy the other day and she said to tell Rylee that Jarrod said hello.  That made Rylee smile.  Please let Brie know that although Rylee has not met her, that she speaks of her and wonders how she is doing.   Is Brie currently able to attend school?  Rylee went to school last Monday (9/25) but then was so sick she could not attend the rest of the week.  However, she was able to go yesterday and so far today she is still at school.  She was sooo excited when she woke up this morning that she was feeling so good.  I am hopeful that all the H1, H2 blockers, Gastrocrom, and Prednisone are beginning to stabilize her condition.  Maybe I am speaking too soon but 2 days in a row of feeling good is more than we have experienced the last 6 months.   I know that I have prayer warriors on this forum and that certainly makes a difference.  I am so sorry to hear you are going through so much with family tragedies.  Know that you are being prayed for and thought of!!  Give Brie a big hug from us and stay in touch as you can.  Take care......Angie

Title: Re: My daughter's story Post by Lisa on 10/04/11 at 13:24:59 Hi Kim, I'm really, really sorry for all of the trials that are happening within your family!!  I pray that God will give you the strength to somehow get through it all!!  I'm praying for you!! Something that I've heard all my life, but didn't really believe it until I went through these trials of my own.   God won't give you too much for you to bear.   Our lives are so very comfortable that we don't have a whole lot within them that really prepare us for when REALLY hard times come.  We've got little to build up strength of character and this is one reason why we feel so very overcome when tragedy hits us.  Yet, what I've learned is that often the strength to deal with these things really isn't from our own strength, but that God somehow gives it to us.  Please don't think I'm preaching or trying to give you my religious beliefs.  I really hate this "political correctness"  for this because we no longer feel free to encourage one another using a religious sense, when in truth the great majority of us do have some kind of religious belief and it's when we are up against a wall that this is when we need to have a belief that someone higher up than us is indeed caring for us and our pain and our trials. So, Kim, with that in mind, I want to encourage you that when those trials are indeed intense and you feel as though you're alone, that in truth you aren't and that what we were taught as kids, that God will not give you too much for you to handle and that when those times are hardest, that you are not alone, that He is there for you, it's true! I hope this encourages you!!! As to proof of what I say, just look at Brie and her improvement and the tremendous doctors that you've gained on your side and all of the answers you've gotten in this past year.  If that's not proof, I honestly don't know what is! Hugs and kisses and many prayers!!! Lisa

Title: Re: My daughter's story Post by Kim on 01/04/12 at 19:45:37 It has been soooo long since I have been on this site... not by choice.  Just other events going on in life.  I really miss reading all of the new posts from all of you.  Just wanted to say that Brie is doing "ok" at this time.  She continues to have spurts of doing well.... and then other times where she still struggles.  She has again had daily symptoms for the last month... but still much better then it used to be.  She continues to grow as a sweet individual each and every day. Her strength amazes me!!!! And she knows so much about her disease for her age that I am always impressed.  And I also know that this comes only with thanks to all of you!  I hope you all had wonderful Holidays and wish only the best for each of you in the New Year!!

Title: Re: My daughter's story Post by ruth on 01/05/12 at 21:59:50 Hi Kim, nice to 'see' you back here! Glad to hear Brie is doing OK, OK is good, when she has been through so much not OK. Praying for more of the same, or better. I hope you are also doing ok, with all that life has thrown at you this year. What a blessing kids can be, when we see their strength, resilience,  and sweetness in spite of all they are going through. Best wishes for health and stability, and time to enjoy the sweetness of your children. Ruth

Title: Re: My daughter's story Post by Kim on 01/30/12 at 14:42:07 Hello everyone.  Just thought I'd give a quick update on Brie.  She has continued to be symptomatic on a daily basis for about 7 - 8 weeks now.  We have her on max dose of all of her meds.... even the Gastrocrom.  She currently is on 2 ampules 4 times a day and this is as high as Dr. Castell's will go.  Her local Dr.'s continue to correspond with Dr. Castell's for direction and guidance and that has been such a Blessing! that we can recieve continued and ongoing care here at home thanks to her 3 GREAT doctors here as well as Dr. Castell's.   Even though she is again symptomatic on a daily basis I still count our Blessings as her symptoms... although sometimes quite severe are nothing like they used to be.  They are much less frequent and much less severe than they used to be.  For the last 7 - 8 weeks she has to take Benadryl for break through symptoms that her other meds are not controling at least once or twice a day.  This in return can make her sooo tired.  I would give anything for the time last fall when she could go a day or 2 or 3 without any symptoms at all.  I just know this is taking a toll on her.   We are still dealing with the Adrenal Gland Insufficiency and at times not sure if the symptoms are coming from that or the MCAS.  She has not required an emergency Solu-Cortif injection for 2 months now so that is good... but makes me think we are dealing with more of the Mast Cell issues again.   We had to wait for 6 months of being off all Steroids in order to retest her Adrenal Glands.  That time will be up in February.  They consulted with Dr. Castell's about redoing this test as Dr. Castell's Protocol for any of these types of tests requires being pretreated with a medication regime which includes Prednisone.... but Prednisone may skew the test results.... So it looks like Brie will once again be admitted to ICU to have this test done.  She will be pre-medicated with Dr. Castell's Protocol but without the Prednisone.  I can tell that this scares the bajeebers out of her Dr.'s (and me too actually).  The initial test that the did last Spring involved giving Brie 1mcg of a medication and she reacted (mildly for the most part) for 2 days.  This 2nd test will involve giving her 250mcg of the medication to stimulate the Adrenals!  So everyone is a little nervous but Dr. Castell's has given the go ahead as it is so vital to see if her Adrenal's are functioning any better or what is really going on and this is the only way to do it.   We have also been waiting to do the MRI of the Adrenal Glands and Small Bowels as we wanted to do everything with ONE hospitalization. But the MRI's will require the use of dyes and anesthesia.... both of which we know she reacts to. So... we can not do those at the same time and will have to do another hospitalization later on as nobody will go near her with dyes and anesthesia without the steroids - they are all catching on!   ;D I will try to post the outcomes of her tests once we are able to get them done.  We think of all of you often and Brie says "Hi" to all of you.  She misses the stories and responses I used to read to her when I had more time to get on here.  Hopefully we will be able to get back to that soon.                                                                  Hugs,  Kim

Title: Re: My daughter's story Post by Anaphylaxing on 01/30/12 at 19:19:19 Kim I never "met" you before but feel for what your young Brie has gone through, I can't imagine a child experiencing this, I'm falling into the adrenal insufficency (maybe from steroids for anaphylaxis) and ?MCAS category so can sympathize about the confounding situation. the only thing I noticed and I'm sure you've gone over it, but I noticed she's also on an inhaled steroid.....in my case the inhaled steroid was causing a lot of adrenal suppression and i had to wean off very slowly decreasing by one puff every few weeks, but it seems to be improving my situation. I wasn't on entocort though I was on prednisone and am not on hydrocoritsone.. I REALLY hope they sort things out for Brie. She is so lucky to have a Mom like you to fight for her 8-)

Title: Re: My daughter's story Post by Kim on 01/31/12 at 02:29:18 Thank you for you reply.  You are the 1st I've had contact with that is dealing with MCAS and Adrenal Issues.  Brie was taken off the Steroid Inhaler as well as the Entocort at the same time.... about 6 months ago.  So she has not had any steroids in that time.  The question with Brie is whether or not the Entocort shut down her Adrenals... which as you know can happen.  But the biggest concern here is that she had a severe episode of Metabolic Acidosis 5 months before starting on any steroid.  They were never able to find a cause for this and we did not know about her Adrenal Insufficiency at that time.... so red flags are raised as to whether or not her Adrenal issues were present long before introducing her to steroids.  She also had a strange episode that required hospitalization at age 3 1/2 that we are now thinking may have fallen under the same circumstances.  This is one reason why I have been anxiously awaiting these tests and their results.  It would be "convenient" for Brie to have the Entocort be the culprit and things turn around for her .... but her history tells us this may not be the case.  I've been able to obtain little to no literature about the 2 diseases occurring together or being related (other than due to the steroids) so this would be just one more "rarity" in her case.                                                                              Kim

Title: Re: My daughter's story Post by Lisa on 01/31/12 at 07:35:41 Hey Kim, we know about rarities with masto, don´t we? !! ::) Yet, what's really so important here is that even though Brie's still got troubles, hers and your circumstances are so much better than what they used to be!!   All your hard work has really paid off and I'm so very proud of you for being so persistant in pushing for those answers!!!   You know, Kim, perhaps if you look at Brie's activity from a different viewpoint it may help you and her as well in having more patience with her situation.   I understand your discouragement in wishing her to be a 100% normal, healthy child and I know that she gets discouraged too for her masto really gives her a terrible beating.   But I've been noticing my own situation and considering those of some of the others of us who also take a beating.   I can't help but begin to see that there are phases of activity we get into.   I'm not like Deborah or Heather or some others who can find a reprieve and pretty much remain stable.  I have phases.   Some where I'm taking more of a beating than others.  Perhaps I can say that I go through lull's of activity instead and that it's in these lulls that life is more like it used to be where I get an entire day of feeling normal.   I've yet to have two days together where there isn't something or other acting up, but at least I'm not feeling so awful as I used to!!   I have had an improvement and with masto, any improvement is a victory! If you can try to keep this perspective, of bearing out the phases of more activity, focusing more on the certainty of a lull coming up to give  you a break, it may help the phases of more activity seem a bit less trying and help to enjoy more the lulls.  Knowing that these are phases, they are temporary, that they will improve is what has helped me deal with so many unpleasant things in my life.   It's been crucial in dealing with pain, for pain is often a very psychological process in that the more you tense up and get anxious with pain, the more intense you feel it.   By emotionally and mentally being more pateint, waiting it out, bearing with it, trying not to focus on it, you can get through it better.   This was never better shown to me than following my open heart surgery for again, all I had to dull the intense pain was an NSAID no stronger than Ibuprophen and what really got me through it was my attitude, that of repeating to myself - this will be over soon, in a moment the worst will be past and I can breath free for a bit longer. By working with my pain and difficult circumstances as nothing more than a phase, by only allowing for it to be a moment and work with it during that moment, once the moment passed, I was free and able to relax.   So, helping Brie to see that this is temporary, a phase, that in a bit she'll be in a lull from the reacting and that when that lull comes she can relax and take more advantage of life, this will help her find resources within herself to deal with these things.    It will also give you the break from having to deal with a soon to be pre-teen who is tired of taking a beating all the time.  If you can teach her now how to find these resources within herself, it will give her the tools to overcome many circumstances beyond just her masto.   I hope this helps a bit, Kim!! Lisa PS - it is SOOOOOOOOO GOOD to hear from you.   I always have loved the tone of what you write and can't help think of how blessed Brie is to have you for her mom!!! :-*

Title: Re: My daughter's story Post by Anaphylaxing on 01/31/12 at 08:39:14 Kim Ohh, I feel for you in this situation it is so muddled. They are also wondering if I have pre-existing addison's/AI, but as you know they can't test me while I'm tapering, or sure if they ever can because, like your daughter needed it requires ICU etc. The episode of metabolic acidosis is definitely unusual. I'm not sure what symptoms Brie gets when she's low on cortisol and I agree they can greatly overlap the mast cell symptoms. For me they are more inability to get off the couch, low BP, nausea. What I have decided to do, and you are way ahead of this, is an extremely slow taper off steroids and see if I get these symptoms, if I do, taper even more slowly. Now that I am getting to a lower dose I will also check morning cortisol/acth levels monthly to see if there is an improvement trend. Once off I've also looked into having a cortisol day curve drawn, not sure if Brie's had this, but it's supposed to be more reliable than the AM cortisol alone.  Also, if I ever get sick I will try to get it rechecked to see if my cortisol levels are elevating appropriately.I am very apprehensive of the stimulation test but am glad Brie seemed to manage it. It was very difficult to find good endocrinology management, sounds like you have. I had to travel to it and don't have any locally. They told me after being off steroids it might take 1-2 years to recover normal HPAA function; though, I know some never do.. . Also, I haven't found any specific articles about the two, but if I do I will l let you know. But in the audio files of the recent Mastocytosis conference in Boston the role of cortisol in controlling mast cell disease was discussed by the docs in the breakout session about MCAS (I think they are on the TMS website and youtube) if you're interested I really hope it all sorts out with Brie. I have e-countered at least three others in a similar mast cell/adrenal predicament, but all adults not children, sorry! Ana

Title: Re: My daughter's story Post by Kim on 04/08/12 at 18:20:33 Wow!!! Can't believe it's been a couple months since I have posted on Brieann's status...  that's a good thing I guess :)  Her Mast Cell disease is more stable than it has been in several years!  I think they have finally found the best med regime for her and that for the most part keeps things to a minimum.  She still has symptoms.... but mostly GI related.  Her skin outbreaks and very minimal at this point and the same with the neurological, cardiac, etc.  She has had a couple more episodes of the NEH....  still have no idea how this all ties into it if it does at all.  Her Adrenal Insufficiency still bares it's ugly head now and then.... but this has improved greatly also.  She has been off ALL steroids... even the emergency Solu-Cortef shots since last October.  She has had one significant episode of illness in that time and did not require the emergency injection.  I really hoped that meant her Adrenal Glands were up and functioning..... but she was admitted to ICU last week for a repeat test of the Adrenals.  She was given the 250mcg (vs. the 1mcg) and surprisingly she did quite well.  She reacted for 2 days but nothing too scary... just miserable for her :(   For this test they "don't pay attention to the baseline Cortisol level" and only consider the importance of doubling her level at 60 minutes."  This is a definite concern of mine as her baseline was still only 2.6 (way to low).... and she was 18 in 30 minutes and 23 in 60 minutes.  Sooooo...... not only did she double but she went 8 fold!!!!  This, from any literature I read means her Adrenals CAN function and went hog wild with the cortisol injection..... which may mean the parathyroid just isn't stimulating to produce the cortisone... which would be secondary versus primary Adrenal Insufficiency.  During her initial test a year ago she only got up to a 9 at her 60 minute level.... so that reflected Primary Adrenal Insufficiency.  So I am really confused.....    When I mentioned all of this to her Dr. she seemed a little perturbed that I ask so many questions or that I know more than they think I should... and she then said that she is not out of the woods and we will continue to follow her and may need a 3rd test down the road.  Some Dr.'s are AWESOME (as she is) but don't like it when the parent or patient know a little something and question it.  This can be really frustrating for me.  So now that she is doing fairly well at this point I am confused as to whether or not I should be concerned for the possibility of Primary or Secondary Adrenal Insufficiency and still how this may or may not be related to MCAD.   I guess we wait it out like we have been doing for the last few years and see what happens.  But if any of you can relate to this I would love any input into this.     Thanks a Bunch,   Kim

Title: Re: My daughter's story Post by Anaphylaxing on 04/08/12 at 18:30:24 Kim that is fantastic news! I am so glad there is progress. I have really delved into the primary vs secondary AI because of my situation on steroids. I am so glad she is OFF steroids!  You are correct that a normal response ensures integrity of the adrenals, but the pituitary gland or hypothalamus may be less capable of responding; however if that has been going on for a long time it also often results in an abnormal adrenal response. It's important for her to get a correlative ACTH measurement to her cortisol draws as well as to check her other pituitary functions. There are other more risky tests like an insulin tolerance test to look for secondary AI, but they can be dangerous and are variably supported. In my opinion, the KEY is how she feels and how her body does in times of stress. If it's unclear and she needs surgery or has major trauma then it is likely safest to stress dose her, but the thing is, if she's like me, she'll need them anyway during those times to prevent reactions! Hope I'm making some sense

Title: Re: My daughter's story Post by Lisa on 04/09/12 at 01:40:30 This really is good news, Kim!!   I´m rejoicing with you!!!!!!    YEAH BRIE!!!!! Tell me, Kim, has she begun GROWING more now that she´s settled down a bit, or is she still on the small size? Another thing - I don´t see why the need for steroids at all, Kim.  I know that the steroids help to settle down the allergic reacting that gets stirred up with the anaphylaxis and crises that we go through, however, I´ve found that steroids are not really so essencial.   The reason why I say this is because I RARELY will have them, even with my worst events.  I have only recently used steroids following huge reactions to perfume, but that was because we refused to go to the hospital!!   I´m still not able to run to the hospital with big events because I´ve got to get the paperwork finalized and this has been complicated because my doctor who must sign it all is in Rio and I don´t get to go there often.   She´s got to put her stamp on it all and without it my local doctor won´t put hers.  So without that, it makes little sense to go to the ER.   But these big reactions need more powerful meds to pull me out of the reacting which means steroids.   But, for example, following my open heart surgery, which was a huge surgery, they didn´t put me on steroids to help with the reacting afterwards, for that kind of situations creates prolonged allergic reacting for a while afterwards.   We had to combat it with IV antihistamines and IV infusion of epinephrine while I was in hospital and then higher doses of oral antihistamines once I was home. This is how my doctors have always dealt with this and I personally think that in the US and Canada the doctors use this much more than necessary.   I don´t believe that either Dr. Escribano or Dr. Castells uses the steroids all that much, but then I´m not certain.    I do know that the use of the steroids are on the REMA protocols as they are also on Dr. Castell´s pre-medication protocols, however, they never mention a continuation of use of them.   And when Dr. Castells adjusted my meds for my surgery, there were no instructions for using steroids afterwards. So, what do my doctors do? Well, what we´ve finally discovered to do with me is when I have a crisis event and need the ER, or I´m hospitlized for a procedure, we have found that IN MY CASE, I must be put on an IV infusion of either antihistamines or a mixture of antihistamines and epinephrine, depending on the situation.  The more acute the reacting, the more the need for epinephrine. I would suggest that for Brie that her doctors consider doing this.   The constant infusion of medications for at least 24 hours will help her system calm down.  It also will force her to keep quiet and in bed and this forced bed rest also helps her to keep her body quiet and recuperate.   I think, Kim, that Brie´s situation warrents just such an approach and recommend your speaking with your doctors as to this option.   Lisa

Title: Re: My daughter's story Post by Kim on 04/09/12 at 16:52:43 Thank you for your posts!  And thank you for correcting me in that it was the Pituitary Gland I was referring to... not the Parathyroid... LOL.  I just reread my post and realized my error and the lateness and tiredness I was dealing with when I typed it.  Yes what you said made very much sense.  Her Endocrinologists said that is why we may need another test down the road... as if this runs long term her adrenals will run down and eventually she will have another failed test and this may be the deciding factor.  Lisa... as far as size - she is still very small.  But has made some headway in that area.  She hasn't even been reaching the "low normal" for most of her life and 6 months ago was 3.5 lines below the lowest "low normal" on the growth chart. Last week she was 1.75 lines INTO the "low normal" growth chart !!!  YIPEE!!!!  Any progress is good... right?   Brieann started steroids only a couple years ago... after metabolic acidosis, and acute respiratory distress, ect. - all without cause found.  Sooo I am not convinced that it was the steroids that caused the Adrenal Insufficiency... but yet I can't argue progress made since being off them.  She was put on Steroids for her severe GI distress and this was the 1st med that EVER helped with that.  Then when we added the Gastrocrom the combination made GREAT strides in lessening her symptoms.  Since stopping the steroids her symptoms have again progressed..... but not to the extent they used to be before starting the steroids and Gastrocrom.  We can make this work without steroids if need be.... but I would love for a time to come that she had better relief of her GI issues with just the antihistamines and Gastrocrom.   Kim

Title: Re: My daughter's story Post by Lisa on 04/09/12 at 22:11:31 Kim, One of the things I was trying to stress in my post was that steroids really don't need to be intruduced at all, at least from my own experience of dealing with reactions.  My doctors and I avoid them due to the fact that they will push up the BP and I've already had a hypertensive crisis while they were involved.  So it's something that I will use only when I have no other option.     I ve used them recently with severe reactions to perfume, but this was only because going to the ER is still VERY complicated for me and I've no written instructions for my doctors as to how to deal with me.   It's still a matter of go to the ER and fight with the doctors to have them do what they need to and probably not get them to do it and thus go home hours later frustrated....OR  try to deal with it ourselves at home with heavy duty medication.   I know it sounds foolish and I personally hate this situaiton, but this is what we've been doing while I'm fighting to get this document prepared and signed for by my doctors, both local and distant.   My recent experience in the operating room confirmed that I'm right for the doctors can't recognize this syncope and when they hear the word syncope they automatically presume that it's SYNCOPE the vaso-vagal kind which is no big deal.    The anesthesiologist was young and had never heard of masto and she decided to completely ignore my doctors written instructions due to seeing this word syncope!  I was left 3 hours in syncope before another doctor was called in and he had to work with me to bring me to full consciousness so I could explain the situation to him and then he listened and used epinephrine on me and saw immediate improvement.  But being it was only a bolus shot, which is short lived, 15 minutes later I was back in the grips of the syncope!  It took another 5 hours of foolishness before one of my doctors was called on the scene and they gave me the infusion and THEN, FINALLY things turned around for me!! This is what I'm trying to say is that this INFUSION form of both antihistamines and epinephrine are EFFECTIVE and there's NO NEED FOR STEROIDS for this is for a 12 - 24 hour drip and in that time period, the forced bed rest also works to settle the reacting down.   By the time Brie would return home, she would be better, more recuperated without the need to attack her adrenals.   This form of medication is based upon an article by a Dr. Simon Brown from Australia in a report he wrote on Cardiovascular Anaphylaxis.   His report cites how some patients don't respond well to the bolus or IM use of epinephrine and he investigates this issue and his findings are that infusions are much more effective with this patient.  He also deals with this same supposition regarding antihistamines and the experience I had with my open heart surgery post-op syncope and reacting was supporting of this paper.   So, I think that with Brie, she should never really need to have steroids introduced but instead  just be on the anti-mediator meds of leukotreine blockers (singulair) antihistamines and epinephrine and then when she gets home, keep her antihistamine levels up and taking singulair until she calms back down again.   This should deal with it all nicely.   Lisa

Title: Re: My daughter's story Post by Kim on 07/30/12 at 15:34:22 My Dear Sweet Brie just celebrated her 10th Birthday!!!!!  She has been such a trooper down this long road that she has had to travel and I am so proud of her!  She has blessed our lives in so many ways and will continue to do so in the future.   She has been fairly stable since last fall until a major mess up on my end about a month ago.  I learned the hard way to never take her improvements for granted and to never assume that she will not respond in a negative way just because she has been doing so well. I have always been extra catious in making sure Dr. Castells regime is closely followed by her medical providers for MRI's, Surgery, and other procedures.......  but never thought twice about the Dentist.   Arrfff....... dummy me!  And my mistake was at the expense of Brie's health and I feel horrible.   I am sharing this with all of you with hopes that you do not make the same mistake with your health or the health of your loved ones.   Brie had to have a tooth extracted and it wasn't until I walked into the Dentists office that I realized we had not followed Dr. Castells protocol for this procedure!!!  The Dr. and I discussed this and I made the final decision to go ahead with the extraction since Brie has been doing so well for several months now.  Also due to her regular daily meds being at higher doses than Dr. Castells protocol I made the assumption that she was adequetaly protected. The only med we did not have on board was the Prednisone.  Well..... needless to say things didn't go as planned.  The tooth was extracted and things went down hill from there...... for 2 solid weeks she was much more symtomatic.  And now for the last 2 weeks she will have good moments but it takes very little to set her off again and into another tail spin.  Sooooo..... for one little oversite or underestimation on my part I set her back to where she was before last fall.  I hope this helps each of you understand the importance of following the Dr.'s orders precisely..... regardless of how you feel before hand.                                                               Hugs to all!  Kim

Title: Re: My daughter's story Post by Kim on 10/10/13 at 18:54:59 I am so glad to see this site is still helping so many people. It seems like forever that I have been back here. But I think of all of you often! Life  has just been so full of obstacles that I have been unable to make the time to frequent this wonderful site and Brie has remained about the same regarding medical stability for almost 2 years now.  Her medication regime, since seeing Dr. Castelle's in Boston 2 summers ago, is what changed her life around. She hasn't improved or worsened much since that time.....  But is stable and sooo much better than she's ever been.  Now that she is 11 years old and the body, etc is starting to change with hormones and puberty things are picking up just a little..... not sure what that all means. And even Dr. Castell's was unable to shed light on what would happen at this time when we saw her since Brie is such an unknown entity with being a young child with systemic mastocytosis...... and this is almost unheard of. If anybody has gone through a similar situation with a child or knows someone who has I would really appreciate communicating with you.  Thank You!

Title: Re: My daughter's story Post by Lisa on 10/18/13 at 05:55:53 My Dear Kim, You are not alone and neither is Brie!!  Since your and my encounter here I have since found two more children who I know without a doubt to be systemic masto kids, one being one of my own sons and another child here in Brazil.   I spoke with Dr. Escribano about these children and he confirmed that yes, they do exist and yes, they are very uncommon!   What makes them the way they are?  Where do they go with their illness?  How will their lives be?  These are questions that only God knows and if you think about it, these are the very questions any parent asks regardless of whether they are sick or well.  There are some things we just must trust to God and ask for blessings and protection for these young lives.   I am also one who believes so very strongly in RESEARCH that I about exhaust the doctor who is willing to give me 5 minutes of his/her time!!   WE MUST KEEP PUSHING FOR MORE RESEARCH for this is the key to our children´s and grandchildren´s health!! Keep pushing for answers, Kim, for this is what you must do for your daughter´s sake!!  Be VIGILENT and teach her to be so as well!!  She´s old enough to know that she must care for herself and be responsible so that she won´t take any beatings.   I´m so pleased that she´s doing so very well and grateful to you for giving us some feedback on her wellbeing!!  This made all that hard work of pushing for answers WORTH EVERY MOMENT OF IT!!! Thanks! and GOD BLESS YOU, BRIE AND ALL YOUR FAMILY!! :-* Lisa

Title: Re: My daughter's story Post by zippy890 on 12/08/13 at 06:10:09 I've read every page of this so far. (It took 18 days of reading one page per day, and I looked forward to that one page every day.)  Please keep us updated on Brie's case and how she is progressing.   This story is very informative and compelling.   I wish the best for Brie and her loved ones. Todd in Tenn.

Title: Re: My daughter's story Post by Kim on 12/08/13 at 07:06:34 Todd, Thank you for your post. I started telling Brie's story in hopes of finding answers to her medical issues and then it took a turn and was more to keep the friends I've made on here updated on her status and also to try to correspond with others in a similar situation. I also always hoped it may help some parent who may be going through the same with their child and to encourage them to push along with the medical system until a diagnosis or helpful treatment regime improved their health and life. Due to Brie being pretty stable for over 2 years and other obstacles in our lives I have not been able to be on this site much but always appreciate hearing from people who do, how they are doing, and to know that Brie's story has not gone unheard. Just a quick update on her.....  she has started to decompensate over the last couple of months and reasons for this are unknown. Best guess would be that she is starting to mature. Her Addrenal Insufficiency remains stable and it's been a long time since she's had an episode of NEH but her mast cells seem to be kicking up a little storm.  Skin issues, diarrhea, stomach and headaches have increased significantly, and bone pain is back.... especially in the back and legs.  Took her into one of her local Dr.'s for a follow-up for this and he doubled her Loratadine and this has curbed the symptoms a little bit. He repeated some of the basic labs for MCAD and again her Tryptase was normal. So once again we do not have a definitive diagnosis for MCAD. According to Dr. Castle's Brie meets 3 of the 4 needed criteria for a definite diagnosis of MCAD and the one that is missing is the elevated Tryptase. I will do my best to keep   her story updated as things change. Thanks again for your time and interest in her story and of others dealing with this. Kim

Title: Re: My daughter's story Post by Lisa on 12/15/13 at 22:59:30 I'm really hoping that Dr. Castells will begin to study these kids, Kim!!  According to Dr. Escribano, they are very rare!   We have two that we know of here in Brazil, my son and another boy who sounds to me a LOT like Brie.  Thankfully the doctors here look at the symptoms and don't pay way too much attention to the criteria in that they are recognizing that these kids do indeed exist and need attention desperately!!!!  If they would publish a case history, of which Brie would be an excellent case, this would help open up the way for other kids like her!!!   Speak with your doctors about this Kim for it would be a tremendous benefit to other parents around the world whose kids defy the rules of masto!!! Give Brie my kisses!!!!  They go double for you!!!! :-* :-* :-* :-* :-* :-* LISA

Title: Re: My daughter's story Post by Kim on 12/16/13 at 13:25:00 Thank you Lisa for your message and kind words.  She would be a great subject for a case study as meets all criteria other than the elevated labs.  Missing you and sending you and your family hugs and wishes for Happy Holidays!     Kim

Title: Re: My daughter's story Post by Kim on 03/26/15 at 17:05:13 WOW!  Has it really been more than a year since I've posted to this site? Time and life has gotten away from me.....  many critical illnesses in the family etc has contributed to this I suppose. Anyway, I just wanted to say that I see many more posts on here regarding children. And I don't want to minimize the effect this disease has on adult lives... but need to say that I am so Thankful that parents have found this site and so they can find helpful information to try to diagnose and treat their kiddos.  This disease, although rare, is even more rare in children and this site has been a blessing to me and I only hope that other parents find the same outcome!  Lisa I am so glad to see you are still here as you have been, and always will be the guardian Angel that helped me get Brieann the diagnosis and the treatment she so needed to improve her life. Hugs :)

Title: Re: My daughter's story Post by Lisa on 03/27/15 at 01:30:16 Yes, Kim, time does fly doesn´t it?   And Brieann must be getting to be a big girl by now!!!  I hope she is doing well and has gained some stability and normalcy in her life.  I really have a small role, Kim.  The majority of the fight has been yours and you, as her mom, are an inspiration and example for ALL parents independant of the form of masto their child has.  Your constant pushing and insisting on answers is what has given to Bri the break she so badly needed!   You should be proud of yourself!!! I´m sorry for all the difficulties you have been facing this past year and I´m sorry you´re not on her more yourself.   You have such a valid voice as a mother and have learned a great deal about masto that you can really help other parents in dealing with their child´s illness.  Don´t think that just because Bri is "spotless" that you can´t have anything to say to parents whose child has spots.  The disease is almost the same and even though most of the UP kids don´t go through what Bri does, the fears the parents have and the challenges in being able to identify the triggers remains the same.   So please, consider being more here to support the parents, your voice is incredibly valuable!!! All my very best Kim!!!!!!!!  :-* :-* :-* Lisa

Title: Re: My daughter's story Post by Kim on 11/09/15 at 21:18:32 Hoping this post finds you all doing better with health and life. I really do miss my interaction with all of you and this wonderful site. Just can't seem to balance life's  challenges and my updated posts for this site. Come here when I get the chance to read others stories and to try to help Brie but so far just lingering day to day. She has reached puberty and things have again increased....... not to the level they were before being heavily medicated. But still.... or again......   pretty somatic.  Being so far away from any mast cell specialist continues to make things very difficult. We give her "extra" doses of her meds when needed but she is resistant at times (more often than not) due to the sedation of them.  I admire her strength for "wanting to stay awake to learn in class" but when this all alters her health when she doesn't have her needed meds what do you do as it is a rapid moving snowball rolling downhill as many of you understand. Also wondering what if any female issues are related to this disease as Brieann is already experiencing several ovarian cysts...... the last one ruptured giving a ruptured appendix scare to myself and the ER Dr's.

Title: Re: My daughter's story Post by Kim on 11/09/15 at 21:31:37 One more important piece of information is that Brie's most life changing medication has been the Gastrocrom. And her local Dr.'s have contacted Dr. Castell's about her more recent worsening symptoms and were told she is on the max dose or the Gastrocrom and they do  not have any further suggestions...........

Title: Re: My daughter's story Post by Joan on 11/10/15 at 14:35:21 Kim, I can't remember whether or not Brie has been confirmed with SM or MCAS.  Regardless, some mast cell doctors are giving MCAS patients Gleevec, and there is about to be a med approved that is going to be used to help lower the mature mast cell burden in patients with the c-kit mutation.  Whether either of those would be helpful or advisable on someone of her age, I don't know.  If you want more info about either of those, PM me.  Apparently, Gleevec is something people can go on and off if they need or want to.

Title: Re: My daughter's story Post by Kim on 11/10/15 at 15:44:50 Sent you a PM Joan.... Thank you!

Title: Re: My daughter's story Post by Kim on 11/11/15 at 17:40:23 Oooops :(  Brie asked me to update her picture last night and so tonight I tried and somehow deleted her pic all together and for the life of me can't figure out how to upload a new one. Can anyone send me the steps to do this?  Thanks!

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