Mast Cell Disorders Forum

Mast Cell Disorders Forum
http://mastcelldisorders.wallack.us/yabb/YaBB.pl Welcome! >> Introduce Yourself/Share Your Story >> Intro from Newbie in AZ http://mastcelldisorders.wallack.us/yabb/YaBB.pl?num=1295841991 Message started by chaco on 01/23/11 at 16:06:31

Title: Intro from Newbie in AZ
Post by chaco on 01/23/11 at 16:06:31

Hi,

I have Ehlers-Danlos Type 3, a metabolic myopathy, 2 errors of metabolism (HFI & FDPase Deficiency), and am currently being worked up for systemic mastocytosis.

I believe my kids, both grown adults w/EDS, have it as well. I have spent the best part of my life actively trying to get us diagnosed and our medical needs and disabilities accommodated. As I always say, "better late than never."

At the moment, I am waiting for the results of a bone marrow aspiration and biopsy. Whatever the results, the hematologist and immunologist both recommended I follow up w/a masto specialist. Problem is, there is none here in AZ, I'm told, and due to my muscle issues and other limitations I can't travel.

Any suggestions? Would anyone know of a masto specialist who might be willing to consult or work w/one of my docs here locally? Is that even possible?

Also, is there a type of masto that's hereditary? Anyone know?

TIA,

Deb Mc

Title: Re: Intro from Newbie in AZ
Post by DeborahW, Founder on 01/23/11 at 16:13:47

Hi and welcome! I don't actually have any answers to your questions, but be patient and we will see if our members know of any docs for you in your area.

As for hereditary: the docs claim that most mast cell diseases are not hereditary, yet we see a lot of patients disputing that. So, I don't know....

Title: Re: Intro from Newbie in AZ
Post by Lisa on 01/23/11 at 21:59:45

Hi Deb! Welcome to the group.

As to Masto being hereditary, Debbie is right, they know that it's genetic, but they say that it's rare to run in families. However, there's not enough research out there and I think it's questionable. My masto specialist said that she got in a 4 year old child with TEMP, her mother has it and her uncle too! Yet, she was telling me that she's seen bunches of UP kids (she's a dermatologist) and has several adult cutaneous cases and about 5 systemic patients, me being one of them. So, this was her first time in having a family with the disease. And she's been a doctor for over 20 years. So that has something to say about it.

However, to balance that, I've spoken with other who say that they've seen suspicious situations with their own kids that make them think that they too could be developing it. And, when I saw my doctor last week, I took in my son for her to help me with him because he's got something autoimmune going on with him and my case is an autoimmune MCAD case. I'm suspected of having SM, but I've got more testing still to do. However, my son is showing some of the very same autoimmune markers I've got and he's got some weird symptoms and like me, the markers don't fall into any one specific disease and his case is wide open. My doctor suspects that although he's not masto now, he could be in the process of it's developing and by the time he reaches 30 or so, he may end up showing the disease.

This sounded pretty reasonable to me, for you don't get a disease like masto overnight - it's not a cold or flu that you catch and then shortly thereafter get sick with it. If my son has what I have, then it's years in the process for I when I look back to situation of 10 or 15 years ago I can now say, That was the Masto showing its face!!! I've no doubts about it now. And had I suspected anything an anybody had gone looking for the autoimmune markers, it's very possible that they were there. This, of course, makes me concerned for my son, but what can be done except keep an eye out for it.

Chaco, we worry for our kids, probably more than for ourselves, due to the damage and hardship that it can impose upon their lives, right? I have a hereditary aortic aneurysm that killed my father when his dissected. I recently underwent surgery to repair mine. Every one of my siblings have inherited it too and they are now under close watch on their aortas. There's not a thing anyone at this time can do to stop the aneurysm from developing and we can only watch and wait. So, I have a choice. Either I'm going to work myself into a tizzy and an ulcer from worry or I will do what I can to protect my children and help educate them as to what they must do to keep themselves healthy. I choose Door No 2! It's the healthier choice! No matter of worry will change their genes and even though it saddens me the idea of my son living with this, it's still LIFE and LIFE IS GOOD and still worth living, even when we are sick! Don't you agree?

Now, what about YOU?!!

I would suggest, Chaco, that you write to either Dr. Castells or Dr. Akin or perhaps Dr. Metcalfe at the NIH and ask if they know of anyone in Arizona who knows of a specialist in masto in your state. I don't know of any, but perhaps some of the people at the TMS site do for they held the TMS conference there this past year.

As to Dr. Castells and Akin working with your doctors, yes, they will. And it would be worth it for then in you have the BMB you should have it sent up to their pathologists to do the study of the marrow so that there are no doubts as to how it was done. It think the NIH will also do this for patients.

I hope this helps!!

Lisa

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/24/11 at 03:39:31

Thanks for the welcome!

Whatever I have in addition to the EDS, I know my sons have it, too. We were born with it; all 3 of us presented w/the same symptoms: GI problems, failure to thrive and milk intolerance (breast, soy, milk, etc.)

My younger son, now age 24, used to go into anaphylaxis from the strangest things e.g. water evaporating off his skin, breeze from ceiling fan. His hands and face would balloon up and the skin would peel off his fingers. He was severely immuno-suppressed, had pleurisy, non-specific pneumonia, chronic anemia and recurring coriza as a child. Around puberty, we started him on allergy shots again in hopes of relieving some of the burden on his immune system and the anaphylaxis stopped. He remains functional and has a successful career.

My older son constantly had rashes as a youngster, started seizures @ age 4, had atypical hyperactivity, sleep apnea, lymphodenopathy, white matter changes, chronic non-viral hepatitis and unexplained inflammation everywhere (e.g. colon, paranasal sinuses, etc.) and was pre-leukemic - to name a few of his non-EDS symptoms. @ age 20 he experienced severe neurological issues including on-going cognitive deterioration and has required around the clock care ever since.

Helping my sons has not been easy. We all have multiple chemical sensitivities, too, and to get those accommodated entailed having to establish the state's first AG pesticide management area; developing & implementing a school IPM program and federally-funded demo project, including spear heading the funding for it; initiating and working state legislation into law; developing an arthropod studies curriculum for grades K-12; and helping co-found two the state's first charter schools after district schools wrongfully terminated my sons' student 504 accommodation plans. All the while, I, myself, was ill and I kept getting sicker and sicker.

Before I knew it, I had morphed into a giant contracture w/living rigamortis i.e. an invald. I couldn't use my hands or take care of myself. Upon discovering that my condition improved w/elimination of certain foods, I stepped up my research of metabolic disorders and started experimenting with diet and nutrient supplementation. I had 3rd World-like deficiencies, most of which were severe.

In that way and manner, I eventually developed an effective treatment program that has put my EDS into remission. The recent addition of Cromolyn and Chloropheneramine was the icing on the cake. Most of my symptoms have resolved and I'd say I'm consistently 85% better, as long as I'm able to avoid exposure to known triggers. The slightest deviation and the symptoms return w/a vengence. I am intolerant to most drugs; ditto my son.

I still flush even when eating "safe" foods. For nearly a year, I was only able to eat 3 things. Now I've graduated up to a few more and that appears to be my limit. I can't have anything with histamine or histadine in it. I believe my errors of metabolism were caused by masto, that my immune system annihilated those enzymes in my liver, as I no can eat fructose w/o going into meltdown (hypoglycemia/metabolic crisis).

After a lifetime of battling this monster, I want a name, a definitive Dx. I'm hoping that'll bring other treatment options forward, especially for my older son. I want so badly to give him his life back.

Any help would be greatly appreciated.

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/24/11 at 07:21:50

Oops! I meant to ask, could someone please provide current email or snail mail addresses for the 3 aforementioned docs? Googling that info brought up different addresses for two of the docs, not sure which if either is correct.

TIA,

Deb Mc

P.S. "Chaco" is the name of my choredog and our farm. :) I use that as my screen name when I see there are other members named "deb".

Title: Re: Intro from Newbie in AZ
Post by DeborahW, Founder on 01/24/11 at 08:23:34

Hi Deb,

I can private message you Drs. Akin and Castells later when I get home. We like to keep their emails off the public part of the website to respect their privacy.

So glad you have joined us! I am curious, how did you find our site? Was it through a search engine or the message on our previous forum?

Title: Re: Intro from Newbie in AZ
Post by missmarple on 01/24/11 at 13:59:17

Hi Deb

I was SOOOO interested to read your story as you chime with mine.

I am intolerant to most drugs - I am even now struggling with ketotifen and I have been taking it for months - suddenly I am reacting to it.

I can only eat three foods too and react to anything and everything but like you I cannot tolerate histamine and histadine.

Your theory about metabolism is right I think - my MCAD (yet to be diagnosed) started two days after I gave up all forms of sugar - something just went wrong.

I would love to talk diet and supplements with you - what can you eat? What foods do you find to be lowest in histamine?

Oh and I have suspected ED too! WELCOME!!

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/24/11 at 15:24:57

Thanks, Deborah! My addy is debmcqueen (at) hotmail (dot) com.

I found this forum Googling something or another about masto. The previous forum popped up and referred me here.

Deb Mc

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/25/11 at 11:29:12

If someone could get those docs' contact info to me, I'd greatly appreciate it. My son had another acute attack and I need to try to find a physician here locally to try and help.

My son started having episodic psychosis in 2004. Same exact symptoms leading up to, during and following these episodes as those he experienced w/seizures from age 4 - 14, about the time he was dx-d w/pre-leukemia. But instead of seizures, at age 22 he started having atypical psychotic-like episodes lasting anywhere from 3 days to 3 months. It appears to be due to inflammation in his brain and liver. In between episodes, he recovers some but does not fully regain the lost cognitive abilities. Sadly, it's taken his toll and he's suffered severe cognitive deterioration.

He can't take anti-psychotic meds as they only worsen his condition. And I can't take him to the ER as all they do there is stabilize w/drugs that he can't take.

Worse, my son is missing. I don't where he's at. He was up all night w/insomnia again and left before I got up. He tends to wander off in this state of confusion and delerium. He has great difficulty thinking, expressing thought and communicating. Last time this happened, the Sheriff's office sent out Search and Rescue team in a helicopter to scan the desert surrounding our home. They ended up finding him at the ER. Amazingly, he had rode his father's bicycle 20 some miles down an Interstate in 110 F heat in search of help since his mom couldn't do anything more to help me.

It's breaking my heart. Since he's an adult, they won't look for him until he's been missing for 24 hours.I don't know what to do. I know he hasn't taken his cromolyn or chloropheneramine as both Rxs are here. I've run out of options and he's pretty much given up.

I won't get the results of my bone marrow A & B for another week and a half. I'm hoping it might provide some answers that'll help get my son worked up as well. Unlike me, however, he's on disability (medicare/medicaid) so it could be even more difficult finding a doc willing to help w/him. As stated previously, I can't travel due to my muscle problems and other limitations and my son can't travel by himself.

I want to write and ask if either of these physicians would know of a doc here locally that might be able to help us.

Please, if someone can provide this info or has any suggestions to offer, please email it to me @ debmcqueen (at) hotmail (dot) com.

TIA,

Deb Mc

Title: Re: Intro from Newbie in AZ
Post by missmarple on 01/25/11 at 11:48:41

Does anyone know any doctor in Arizona that can help Deb and her son? Or any specialist in his condition?

Title: Re: Intro from Newbie in AZ
Post by Starflower on 01/25/11 at 12:15:59

Although I'm not a big fan of TMS (long story), I think that would be the best place in the US to get a referral... http://tmsforacure.org/contact.shtml As you know, Arizona is not exactly a hotbed of mast cell research :(

I wish I had a better answer for you, but I don't live in that part of the country. I hope your son is found safe and sound very soon!!!

Heather

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/25/11 at 13:48:13

Starflower wrote on 01/25/11 at 12:15:59:

Thanks, Heather. I already wrote them about this a couple months back. Still haven't rec'd a response.

Title: Re: Intro from Newbie in AZ
Post by In2butterflyz on 01/25/11 at 14:41:37

Hey Deb,

If I were you I would try to contact the TMS again. I have contacted them twice now and both times they have responded back by the next day. The first time I contacted them was for finding a doctor in my area. Valerie M. Slee was who responded back to me and we had a couple emails back and forth and they were all done in a timely manner. Just go to there home page and click on the "contact" button at the top of the page or just email them at info@tmsforacure.org
I hope things work out with your son!

Take Care,
Tracey

Title: Re: Intro from Newbie in AZ
Post by Starflower on 01/25/11 at 15:34:55

Absolutely... and if that doesn't work, try contacting some individual members of the TMS board (http://www.tmsforacure.org/bod/index.shtml). Sometimes one person gets sick and they just aren't able to respond right away. All of the TMS board members are mast cell patients too.

Heather

Title: Re: Intro from Newbie in AZ
Post by ruth on 01/26/11 at 15:32:43

I have found that a helpful source of doctor info too, but it took time. The member I contacted was really helpful, but she had been in hospital, and said she receives many patient emails in a day, so I guess you just have to bear with them.

Title: Re: Intro from Newbie in AZ
Post by Sandi on 01/26/11 at 17:10:01

I can say I have absolutely no arizona recommendations at all! So far totally inept allergists etc. I won't bother to list the ones I've tried, hers one I was considering, Dr Lara Ispas http://www.sonoranallergy.com/syst_mast.php, another that was recommended in the phx area is both of these are chances, Dr Lara actually wrote a paper on masto a while back. I emailed her office to see if they do treat masto patients and didn't hear anything back. Right now I'm holding to just wait and go see a specialist, travel for me is also almost impossible, but I'm currently done with allergists unless they actually know something about Mast Cell disorders. another is Duane Wong, MD Arizona Allergy Associates 705 S Dobson Rd Chander AZ, not a mast cell specialist but I've been told he is at least investigative...... The last would be Dr Leonard Schultz in Tucson
someone that has masto goes to him, I've been to another physician in the practice it was awful absolutely awful. However the "wait" for the physician I should have seen was too long so they gave me the schmuck. So definately wait for Dr Schultz if you want to try him. Sorry to sound like such a downer! Thats just where I am at the moment, just done with Dr egos, and back to self medicating as best as I can and using my GP. There was a doc at Mayo, I was seriously considering but my Insurance does not cover him, his page says mast cell disorders and eosinophil disease. Which was another subject I wanted to broach with you, Eosinophil disorders are quite higher in arizona as compared to other states. They've not figured out why yet, I saw a childrens eosinophil specialist in Tucson who would have been smart enough to figure me out, but had no absolute no desire to. I was used to dr shock, but really didn't expect it from this one I figured he'd be intrigued bigtime with an adult and want to figure me out! NOT! Oh it'd help if I gave you the Mayo Doc in phx wouldn't it? :)
Dr John C Lewis, Mayo Clinic heres the web address
http://www.mayoclinic.org/bio/10540024.html
Possibly give one of these a try!
Sandi

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/27/11 at 09:03:45

Sandi, are you in AZ, too? If so, where? I'm in Desert Hills, a rural community N of Phx.

I have to agree w/your assessment that, based on my own experience, our physician pool here is something to be desired in most areas of medicine. Mayo Scottsdale is the worst. Long story, short of which is I have NEVER been treated so poorly. They misrepresented themselves, injured me and ended up sending me a letter of apology and waiving all costs (8k+). Bottom of the barrel, IMO. I would NEVER go back there, EVER! <lol>

Dr. Ipsa-Ponas is who started my preliminary work up. No, she doesn't dx or treat masto, just ordered a few tests and referred me on to a hemo for the bone marrow A & B. Should be getting the results at my follow-up next week.

In the meantime, I contacted an out-of-state masto researcher to see if she would know of any docs here locally that might be able to help us, or if she would have any suggestions to offer.

My son is very seriously ill, can't communicate, won't eat and I fear we're running out of time. Yes, we found him yesterday, thankfully! I feel so helpless, there's nothing more I can do.

Tucson is doable for us if someone drives us - we've done it before (Metabolic specialist @ the Cancer Center). I think I saw something online about the doctor you mention down at the U of A MC. If my memory's correct (may not be), he specializes in aggressive forms, cancer. The hemo I'm seeing said he doesn't think I have the aggressive form since I'm still alive. I've had chronic neutropenia and other blood disorders on and off again my entire life. I'm 52.

Any port in a storm, though. I'm not sure how much longer my son can hang in there. It just breaks my heart.

Good luck to you!

Deb Mc

Title: Re: Intro from Newbie in AZ
Post by Sandi on 01/28/11 at 18:39:02

Very Frustrating Deb! In my opinion Dr ISPAs Ponas should have investigated further! Arggghh these allergist drive me bonkers! I've heard the same story from mayo, basically started a masto patient on chemo that should have never started it. My gastro here in tucson had more hope in the phoenix doctors than tucson... I'm on current holdout for Dr Phillip Miner Jr, in Oklahoma City, OK, he's really familiar with mast cell disorders/ eosinophillic with regard to gastrointestinally challenged peeps...... He was at the conference in tucson this year and was great to hear, I wish he could have spoken longer. Have you looked into autistic spectrum diseases also for your son? Possibly Peg tube feedings of hypoallergenic food may alleviate his symptoms. Deborah and the girls that have technical knowledge are transferring info over to this board but possibly go over to the old board to read up on all of us and medication regimens and keep working on your dosages/intervals. I didn't get to read all the other replies so sorry if I'm repeating myself! It seems truly even with the "right" doctor a lot of self awareness is needed to manage severe symptoms. You have to constantly be aware of products in use around you, things you are in jesting down to every single ingredient
hormonal cycles, the filtration of water,,,,, If I remember right you have severe food/ chemical intolerances also so you already know. So Im def repeating myself, keep on keeping on! This is no fun yourself, but when your child is ill that is awful, and frustrating. Oh from the lefora site, I'm the one who recommends visual head butts when you are ready to scream sitting in front of the latest doc who tells you it's all in your head or Wow, I've never seen this before, or hmmmm I don't know, you'll just have to figure it out theres really no research on people with your problems...... :) I have this terrible problem of jumping on here when I'm exhausted and then I make no sense, ramble on and on (easier than getting up and going to bed :)
my spelling and grammar got to the birds!!! I'm in Catalina, a rural community N of Tucson :) Where the coyotes keep you up at night :)

Title: Re: Intro from Newbie in AZ
Post by Sandi on 01/28/11 at 18:54:21

I was just re reading your post, Does your son have a gastro? The peg tube thing really might be a good idea especially since he's not eating anyway. My worry is reacting to the tube food, or the actual gaget put into/onto me, but lately I'm re considering again. Thanks for listing your meds I had thought of trying the chloropheneramine, I react to so many medications also, What form of cromolyn are you taking? With your sensitivities I'm sure youre aware of mold, even here, I can battle it in windowsills, the bathroom sink 'vents" and shower doors, molds can really mess with a persons mind. My guess is you've tried that avenue, and it's not a horrible problem 8 months out of the year here! Unless theres a leak in a wall or something, or a shower is leaking around the floor etc. Ok, outta ideas for now,
Sandi

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/29/11 at 06:50:27

Hi, Sandi.

I'm on 100% pure cromolyn sodium, 1-2 200 mg. caps upon rising, before meals, before chores (I'm an organic farmer) and at bedtime. The chloropheneramine needed a filler so the pharmacist had me bring in certified pure DE, food grade, that I further tested for purity (iodine test to ensure it wasn't cut w/ flour) just to be sure.

This has been a lifelong venture for all 3 of us. For the past 28 years, every day has pretty much been a matter of survival. I've gone to great lengths to get my sons' special needs accommodated, even initiated and worked into state law legislation that set nationwide precedence. Our current home was custom built to accommodate our health problems. We built on virgin desert in an area that had never been used for AG or industry, nor anywhere nearby.

I've put my son back on an elimination diet. While at the shelter, they gave him foods that we know he's intolerant of. I'm pretty sure the event that triggered his neuro meltdown last weekend was physical exercise. He had gone on a 30 some mile cycling event (pre-MS-150 fundraiser) with his dad and brother. The confusion is starting to lift some and he has resumed eating and can communicate better, but now he's super pumped, restless and manic.

I am working on getting him a referral to Dr. Ispas-Ponas, in hopes she can help us get him worked up next. She doesn't dx or treat, she says, because she doesn't have the needed facilities. Her private practice is set up for allergy shots, that's it. I am very thankful for her part in getting me worked up this far, and for the referral to a decent hematologist. My son has an appt. w/his PCP next week for getting the referral he needs.

My son has seen dozens upon dozens of specialists over the course of 28 years and none can figure it out. Most get frustrated and pass the buck, kinda' like hot potato. I can't take him to the ER, all they do there is stabilize w/drugs, which only worsens his condition and turns him psychotic and combative. He's on medicare/medicaid so it'll probably be even more difficult to get him to a masto specialist...and we're running out of time.

My other son, who's still functional, was dx'd with high-functioning autism. He's the one that used to go into anaphylaxis from the strangest things (water evaporating of skin, etc). He's actually outgrown it, is brilliant as ever and has a successful career as a software engineer. I've read that autism has been linked to masto and childhood vaccinations - interesting! Like us, he has EDS 3, which I am becoming more and more convinced is a complication of untreated masto.

We need a masto specialist and a magic carpet to transport us there. :)

Deb Mc

Title: Re: Intro from Newbie in AZ
Post by Kim on 01/29/11 at 18:23:05

Deb / Chaco;
I am so sorry for what you and your children have been through and continue to go through. Your story brought tears to my eyes. Even when dealing with an illness we may have ourself - there is nothing worse than seeing our children suffer and not having the resources to help them or find answers for them.
I do not have any advice or words of wisdom for you. I am just learning about this disease myself in an attempt to help my 8 year old daughter.
But I wanted to say that you have come to the right place. There is LOTS of support here! There are also some very knowledgable people here with great references and advice and many can also assist in the process of contacting some Dr.'s that may be able to help.
I hope your son comes home safe and sound real soon.
Kim

Title: Re: Intro from Newbie in AZ
Post by Starflower on 01/30/11 at 01:21:00

I don't know why I didn't think of this before, but Dr. Theoharides does research on both mast cell disorders and autism. Why don't you send him an e-mail? Here's a link to his contact information:

http://sackler.tufts.edu/Faculty-and-Research/Find-People-and-Research/Faculty-Profile.aspx?id=142

Maybe he'll have some ideas for you that other doctors have not.

Heather

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/30/11 at 06:17:09

Wow! Thanks so much, Heather! I've decided to wait until after we get the results of my BM A&B et al before contacting any one else for help. My follow up w/the hematologist is later this week.

Kim, Has your daughter been dx'd yet? That is so so important. As 'Im sure you must know, getting an accurate definitive dx early on is key to successful management and finding the most effective and beneficial treatment. That's where we lost out...haven't given up but I've pretty much run out of ideas and options. Best wishes to you and your daughter.

Deb Mc

Title: Re: Intro from Newbie in AZ
Post by Kim on 01/30/11 at 06:23:18

Deb;
My daughter does not have a diagnosis of MCAD yet. But myself and a couple of her Dr.'s believe this will come. She has pretty much every symptom (other than UP) and responds fairly well to the meds used to treat MCAD. She has been to MANY Dr.'s and to Mayo twice. We have been knocking on several doors trying to get a specialist in MCAD to help us with a diagnosis. We have been unsuccessful so far but we aren't giving up!! Her story is on this forum under "my daughters story." I am relieved your son has made it home safely. I sure hope you get some responses from some specialists that may be able to help both you and your children. Keep us informed.
Kim

Title: Re: Intro from Newbie in AZ
Post by Sandi on 01/30/11 at 09:14:33

Deb/Chaco,
I really wonder how many of us with environmental/ Multiple Chemical Sensitivity really have Mastocytosis. I can't believe how long I tried so many alternative therapies ( which I still back and believe in) however that particular mindset will not accept /treat mastocytosis! and the need for antihistimnines! Could I ask the expense of the cromolyn for you a month? I was considering going to our compounding pharmacy and seeing what they could do. Fillers/etc are major for me also. Congrats on your farming and living out in the boonies! we moved out and now I'm having serious problems with the neighbors laundry scents poofing out all day long. It's insane when you are among acres of empty land and all you can smell/feel is gain. Off the subject of misery! What all do your farm here in the desert? I've not done well with some of the local organic farmers market things I've tried they are very "weedy" does that make sense? So far I've tackled desert flower gardening pretty well, however,nature is pretty brutal out here so I've not been tempted to grow my own food, the animals are relentless! Now back to your son, is he on any type of antihistimine? Just to see if it would help? Even the cromolyn you are taking possibly for mast stabilization in the gut? You are familiar with the natural world I am and the super senstive stuff, are you aware of a good probiotic that you tolerate? I have yet to truly find one. Im going to try another from Kirkman labs, I tried an inulin free one and wasn't sure it passed. Testing things can take so long when you are in a constant state of non happy insides! One should be symptom free for a week before testing anything new, thats a hard one to accomplish! So before the weather gets hot I think I'm going to try it again, shipping it in the winter is better for us here. ? I got some multi vits to try but never did, everything they have you can get a trial size, but I felt a lot of it as far as shampoos/lotions etc were worthless for me. But I know a nutritionist who uses a lot of their products for her autistic son who is very chemically sensitive.
Wow, I jump from subject to subject like a hyperactive monkey on espresso swinging through the trees. I hope you can get something figured out with your son asap. Possibly getting him back on that elimination diet will help. I have confirmed time and time again, I just don't tolerate much. So that may be his story. Food reactions can really affect the mind. Keep us updated on how you are all doing! Maybe if you find that magic carpet I could hitch a ride with you all. :)
;D

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/30/11 at 11:29:35

Sandy, I also wonder how many of us EDS3ers have a mast cell disease as the underlying cause. I'm pretty sure my histidime/histidine intolerance was inborn. Ditto my kids. We all presented at birth w/the same symptoms and my younger son has the exact same food aversions as me!

My pure cromolyn costs me $52 for 120 200 mg caps. It requires a Rx but the pharmacy I use is happy to do it.

I took my son off of cromolyn this morning. I'm beginning to think it's exacerbating his symptoms, that he - at least at times - has too little histamine. To test this, I gave him a double dose first dose of the day and it was the worst day he had in the past week, and he's had a rough week. Interesting to note that his plasma 3-methylhistidine is low but his histidine and 1-methylhistidine are always elevated.

Another interesting aspect is that I am very sulfer intolerant, all forms, and have been at least since 1982, when given magnesium sulfate IV to stop premature labor (it didn't work and felt like fire was coursing through my veins; throat was burnt raw and was hoarse for months thereafater). Anywho, sulfer intolerance is associated w/too little histidine, which the body breaks down to histamine. So now I'm wondering if our problem isn't lack of ability to break these two proteins down.???? The cromolyn and cholorpheneramine work for me and I'm seeing improvement - a difference that complicates our mystery futher.

I'm a waterfowl farmer and egg rancher. I raise exotic and domestic waterfowl and exhibition and novelty chix and goaties. The abundancy of wildlife makes growing garden (not to mention pasture) next to impossible. We have a couple small greenhouses for growing the few veggies and fruit my son and I can eat. Up until just recently, I wasn't able to eat any fruit or veggies as I'm missing the liver enzymes needed to break them down. Or at least I was. Supposedly an inborn hereditary disorder that's not curable yet when I removed all histamine from my diet, I was able to eat fructose!!!

I can't have any FOS, inulin included, no fermented or aged foods and no digestive enzymes or probiotics. Gave up trying as each time took away use of my hands for anywhere from 2 days - 6 weeks and started the inflammation/dislocation process, or neuromuscular meltdown.

If I find a magic carpet, we'll be sure to swing by and pick you up. ;) BTW, my EDS 3 dx was established by a University Rheumy down your way. He knows how to evaluate via the Beighton scale but doesn't treat. Couldn't find a single rheumy up here who could do either. Ditto our two clinical geneticists. It really sucks having rare med disorders here in AZ, doesn't it???

Take care,

Deb Mc

Title: Re: Intro from Newbie in AZ
Post by Joan on 01/30/11 at 14:34:46

There was a family in our CO support group who has several generations of masto patients. In fact, the mom had 6 children, and I believe 3 were blond and 3 brunettes. I believe it was the 3 brunettes kids who all had masto, but the blond ones didn't. (Could have been the reverse.) Nevertheless, it was obviously hereditary in their family.

Still, this is considered very rare.

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/30/11 at 15:13:07

Thanks for sharing that, Joan. My sons and I were all blue-eyed blonds as children. Now that they are grown, both of them are more brunette.

EDS is hereditary. However, the defective gene or cause has not yet been found in the particular type we have. Most of the EDS3ers I've been in contact with have allergies, IBS or IBD, and many report anaphylaxis, flushing and food intolerances that increase and worsen with progression of joint and muscle problems. I am convinced mast cell dysfunction is one of the underlying causes of EDS 3. Makes sense. Afterall, mast cells are part of connective tissue.

Title: Re: Intro from Newbie in AZ
Post by Joan on 01/30/11 at 18:50:53

Hi Chaco,

I just re-read your post about lacking enzymes. Wondering if digestive enzymes that you can buy might be helpful in getting you a more varied diet? I use a single enzyme, bromelain, to help digest fats and proteins, but there are others that help with digesting other foods. I can understand if you don't want to try something like that. It takes me a long time to get the nerve up to try a new food or medicine.

Hope you get some answers.

Title: Re: Intro from Newbie in AZ
Post by chaco on 01/31/11 at 02:41:38

Joan, I've tried digestive enzymes with and without bromelain (potent histamine releaser) and can't tolerate them. I don't know if it's because the enzymes are fermented but I've even tried some from non-lactose, non-soy sources and still no go. Within 10-15 minutes of taking 1 cap, the inflammation returns to my spine and the nerves in my hands, my left SIJ dislocates, my pelvis twists, setting off the chain of events leading up to neuromuscular meltdown. I can actually feel the muscles cinching tighter and tighter in my arms, my thumbs and my legs. Next thing I know, all my EDS 3 and myopathy symptom are back w/a vengeance. And I just want to die it's so painful and disabling.

The enzymes I'm missing in my liver (Aldolase B and fructose 1,6-Diphosphatase) can't be supplemented or replaced short of a liver transplant and from what I've been told, that wouldn't be advisable. Since it's genetically coded, my body would kill off those enzymes and possibly reject the new liver.

Title: Re: Intro from Newbie in AZ
Post by chaco on 02/04/11 at 11:34:08

Woo hoo! My son's PCP provided a referral as requested for my son to see the allergist/immunologist who started working me up for masto. He was intrigued by the study noting the connection between mast cell dysfunction and EDS. Baby steps but nonetheless a step forward.

Deb Mc

Title: Re: Intro from Newbie in AZ
Post by Starflower on 02/04/11 at 12:08:26

chaco wrote on 02/04/11 at 11:34:08:

He was intrigued by the study noting the connection between mast cell dysfunction and EDS.

What study is that?

Heather

Title: Re: Intro from Newbie in AZ
Post by Kim on 02/04/11 at 13:23:25

Deb Mc;
That is GREAT news! It may be a baby step.... but each baby step gets us one step closer to answers :)
Kim

Title: Re: Intro from Newbie in AZ
Post by nikweth on 02/10/11 at 01:33:21

Deb,
I saw on your post that digestive enzymes are potent histimine releasers? I have taken them for a about a year and a half but don't take them religiously. Maybe I should be leaving them alone.

Title: Re: Intro from Newbie in AZ
Post by chaco on 02/10/11 at 03:39:27

Nikweth, Bromelain is a potent histamine releaser. I don't know about the other enzymes except that they also trigger neuromuscular symptoms in me.