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http://mastcelldisorders.wallack.us/yabb/YaBB.pl Welcome! >> Introduce Yourself/Share Your Story >> My daughter http://mastcelldisorders.wallack.us/yabb/YaBB.pl?num=1300616439 Message started by Adele on 03/19/11 at 23:20:39

Title: My daughter
Post by Adele on 03/19/11 at 23:20:39

Thanks for allowing me to join this site. I have put my daughter Baeleigh's story below. This is a rundown I have supplied to doctors so excuse the irrelevant info and thanks for reading such a long post.

Bae is now 7 years old and until this occurred was an extremely healthy child with minimal medical history – moderate eczema as a toddler and long standing constipation since toddlerhood which resolved about 18 months ago. She is fully immunised (Australian schedule) and has consistently met all milestones, been active and her diet/intake has been healthy.

She had a reaction after sports day at school on the 18th June last year. She and I were at home, she told me she was itchy and I suggested she have a shower and within a few minutes she was very distressed with itching and bleeding from scratching herself. The reaction included dropped blood pressure (she typically describes this as a funny feeling in her ears), swelling around her mouth, hives and wheals all over her from her head to her knees etc. She was treated in the emergency department with Phenergan and Prednisone. She did not require adrenaline. After this we saw our general doctor and started having an epipen on hand.

We went to an immunologist to investigate what she might be allergic to. His initial thoughts were exercise induced anaphylaxis. He did a skin prick test and discovered that she had an anaphylactoid reaction to histamine and no reaction to anything else. She became pale and floppy at the time but remained conscious. Her trypase was tested after this and it was raised but not overly high. It has continued to be stable but high since. 17 – 19 is the range. She had a 24 hour urine collection which showed nothing and her other bloods were fine. I can send copies of any of her blood results if you would like. He told us that he thought she had mastocytosis and described it as an indolent cancer. He referred us to a haematologist/oncologist. She did some further bloodtests and sent some blood to be tested for C-kit. This result returned as positive in one band and it was suggested she have a bone marrow biopsy.

Her diet was significantly restricted to avoid foods high in histamine as was her exercise participation on the advice from our doctors. We are no longer restricting her diet and she can do whatever exercise she can tolerate.

She became unwell in October 2010 and was hospitalised due to struggling with eating/swallowing, she lost about 25% of her body weight, had abdominal pain and headaches etc. She had bilateral bone marrow biopsies and gastric biospies which showed nothing. She had abdominal ultrasounds and was tested for a range of other illnesses such as coeliac which returned nothing. Her tryptase continued to be elevated.

She was good for a few months between November and January and early in February we think she may have become overheated playing at school on a very hot day and has been symptomatic since. She had studies for bee and wasp sensitivity and was shown to have borderline sensitivity to bee stings, she has frequent stomach pain, headaches, limb pain, lymph pain and this has been becoming worse in recent weeks. She is very tired a lot of the time. Typically has dark rings under her eyes. There was a recommendation from our haematologist that she should have anti-venom therapy but the immunologist does not think this is necessary. She has had regular blood tests since June 2010 including full blood counts, elfts and a range of more specific tests. Most have been within normal limits except an occasionally raised IgM.

We saw her haematologist/oncologist 2 weeks ago and she had done further tests on her bone marrow – gene rearrangement and discovered that she has cells which are monoclonal. She suggested this might mean Bae is closer to needing gleevec and expects we might make this decision in the next 3 – 6 months. She is testing her blood for C-kit again given the possible positive previously seen. Our immunologist thinks she should start on gastrocrom (?sp) due to her ongoing symptoms. We are in Australia so this needs to be imported as it is not available here. We are hoping to start this is 3 – 4 weeks. Due to her pain he would like us to consider doing a nurofen challenge in his rooms as an option for pain relief.

The drugs she is currently on are; zyrtec twice a day, zantac twice a day, somac once a day, regular panadol for pain, iron because her iron levels are borderline. She has prednisone and phenergan as required and we have epipens whereever she goes. I have started her on some pain stop (panadol and codeine) to see if that helps instead of the panadol but she reports that neither really helps. She has heat packs regularly for pain and massaging her joints helps.

I am confident in our medical team however the amount of information and direction in relation to this seems so limited that we find it difficult to make informed decisions about her care and are hoping that there may be some additional information/experience available internationally.

Baeleigh has been seen a couple of times by a dermatologist and she has never had any evidence of skin lesions.

Her pain at the moment is just terrible. She is miserable and is struggling to make it though a week of school due to fatigue and pain.

Thanks again for reading

A

Title: Re: My daughter
Post by Lisa on 03/20/11 at 03:12:26

Hi Adele,

Welcome to our forum! I'm sorry to hear about your little girl. We have some other Moms here on our forum who are also running after diagnoses for their children. Kim and Ruth both have children who seem to be systemic masto kids and it's these kids who really give their doctors a run for their money since they almost totally break the rule as far as masto kids are concerned - no spots!! This is what makes them so hard to diagnose!!!

It sounds to me as though you've got some great doctor support going on for you there. However, I'm very concerned about their talking Gleevac so early on in this. The doctors really hesitate to do any kind of chemotherapy with masto patients because even though "technically" speaking you could in theory call masto an "benign cancer" when it's in the indolent stage, not even the masto experts will use these two words in association with the indolent stage of masto.

So that I don't freak anybody else out, let me explain this. If we look at tumors, both benign and malignant they do two things - they are clonal neoplasms that end up reproducing in a group and this reproduction ends up invading tissues - they end up crowding the healthy cells out. Understand? Well, this is indeed what happens with masto. What happens is that there is a defect in the production of mast cells and some of them are clonal in their nature. When a mast cell is activated it produced mediators which in turn will call other mast cells to come to that site where these mediators were released. These clonal mast cells don't die off when they were supposed to, so they end up hanging around too long and they continue rearming themselves and continue to release their mediators. So what happens is that you have a gathering of mast cells - an overload of them. Well, those which are clonal end up glueing themselves together and this is what forms that so called "tumor" in that they form this ball of clonal cells. But this process is SOOOOO SLOW that although technically speaking it looks and seems like it's a tumor, it's really such a mild and slow growth that it doesn't resemble a tumor at all. It's very, very, very slow and takes YEARS for it to begin causing problems and by the time most adults are found with masto, they've in truth had it for at least 10 to 20 years - they were "hatching" the disease in truth.

Well, the situation is a bit different in children and most of those kids have the disease show itself in their skin while they are yet little. I would suspect that whatever is involved in children to make their bodies grow at such high rates has a lot to do with how quickly the disease will show itself in them. Their motabolism is on super high speed and so the reproduction of all of their cells is in it's highest gear and thus, this speads up the reproduction process in them that in adults takes years and years to finally show itself. However, in children most of them have a limited form of the disease for many of them will magically be cured of the disease within their adolescent years. The researchers still don't know why or how, but this is how it is.
Although this is how it is for the majority of the kids, there are exceptions. Some children will carry their spots all through their childhood and on into adulthood, and others will go systemic. Then there are those kids who don't have spots and are instead systemic. I have to be honest with you, I don't know anything about these children for there doesn't seem to be any literature about them, for these kids are rare and break all the rules as far as the kids go. Yet that's typical of masto for it's a disease which loves to break the rules!!!

As to the aggressive side of masto, yes, Adele, this does exist and there are some children's cases sited in the literature that do describe cases where the disease became or was found to be aggressive in the children.

You see, Adele, masto is a funny disease is that for the vast majority of us, when the disease makes itself known it comes out slowly and over a long period and it takes time to find it's masto due to how slow the entire process is. It's in the Indolent/benign form and although it causes difficulties, it's really nothing more than that of being tremendously allergic and it's really presents itself as an absolute pain in the neck kind of disease. It's a tremendous inconvenience, but it generally does not present anything dangerous to our lives (if you consider anaphylaxis to not be dangerous, but this is another subject, so I'll leave it be for now).

So what about this aggressive form? Well, yes, the disease does indeed present an aggressive side to it, but this presents itself in the very opposite way that the indolent form does. This form comes SCREAMING out of hiding!! More often than not this form will show it's ugly face in the form of Leukemia or Lymphoma and then with testing they find the truth that it's a Mast Cell Leukemia or Mast Cell Lymphoma. You see, being a blood disorder, it's very often associated with other blood cancers like Multiple Myeloma, Leukemia and Lymphoma and when it shows itself, it SCREAMS at the doctors due to how ferocious it is and how much it throws all of the CBCs totally OFF!! There's no hiding this form of masto and doctors recognize it for how ugly it is!!!

It's with THIS FORM of masto that doctors will do chemo for these patients are dying and it's not a slow process. They must act quickly and drastically in hopes to save the lives of these patients and this is when they will use Gleevac and some of the other Chemo meds.

Now, about your daughter and her care, her case sounds similar to Brie's case in that she's got plenty of activity and difficulties and yet for her doctors to be talking with you about Gleevac already, this concerns me greatly! Kim's had a great deal of work with Brie and her doctors but they've not once said Gleevac. Kim's finally been able to get an appointment to see Dr. Castells in Boston, but I know Adele that this is difficult for you. Unfortunately Adele, you have not one single Mastocytosis authority in Australia. However, this doesn't mean you can't have access to excellent help.

Adele, there are two people who I would recommend that you write to and I'll give you their emails for contacting them. One is Nancy Gould. Nancy is a masto patient and a lay researcher in masto. She's an American but lived in New Zealand for at least 30 years and she knows doctors there and perhaps in Australia as well. I believe that she can help you find help there in Australia. However, like I said, your doctors seem to have a good handle on the disease, good enough to suspect it and test for it. But to go thinking about Gleevac already, this is what concerns me for they may be jumping the gun. I can't say how "aggressive" Bae's disease is not knowing how any of her test results are from your post. They may be right, but I honestly feel that you need to call in one of the authorities to help you and your doctors. You need to have another opinion and the doctor for this job is Dr. Luis Escribano from Spain.

Dr. Escribano is a hematologist/oncologist and he's an AUTHORITY in this disease. If you had any way to take your daughter to him, this is what I would most strongly recommend for Dr. Escribano works with masto kids the world over. I live in Brazil and I know of one child he has in his studies. He has proven to be key in helping Kim get Brie to see Dr. Castells. He's an incredibly gracious man and I think he has a real soft spot for the kids and I think that if you write to Dr. Escribano explaining exactly what you explained to us, that he will comprehend in a second what your daughter's situation is and will do what he can to help you and your doctors. He will consult with them and help make sure that they don't anticipate anything or delay and he will also help YOU to maintain your calm as well as control over your daughter's care.

So, Adele, I'm going to send you a private note with the email of both Nancy's and Dr. Escribano's emails and if you will only write to them, explaining what you have here and ask them for your help, I have no doubts that they will do what they can to help you.

Don't worry, Adele, you came to the right place and I'm sure we can help you as we've helped one another here.

Lisa

Title: Re: My daughter
Post by Kim on 03/20/11 at 07:14:11

Adele;

I only have a minute here as life on this end is in a little turmoil. But I definelty will be following your posts and your daughters situation.

I feel for the two of you as Brieann and I have been through much of the same that you 2 are. Brieanns story is under My Daughters Story if you would like to compare the two.

The main difference is that Brieann has pretty much tested negative for EVERYTHING thus far.

Brieann has been on MANY meds for the last one and a half years and and would still break through with one or more symtoms prettty much every day. We recently started Gastrocrom, along with her other meds, and this has made a very noticable difference / decrease in Brie's symptoms - especially the GI symptoms.

She continues to have frequent break through symptoms - but they are again less frequent. Her GI was the number one symptom for almost 3 years... but with the Gastrocrom her number one symptom is currently flushing and facial puffyness.

After 5 months of trying to get a Mast Cell Specialist to see Brie we now have an appointment with Dr. Castell's in Boston at the end of June. We are hoping for some definite diagnosis at that time... but this disease is very hard to diagnose... especially when every test done comes back negative such as with Brieann's case.

I wish the best for you and your daughter and hope that you can get some answers and better treatment for her quality of life. I hope you keep us informed and updated here.

Kim

Title: Re: My daughter
Post by Adele on 03/20/11 at 11:55:48

Thank you so much for taking the time to respond Lisa and Kim. I cannot tell you what a relief it is to read responses from people who actually have some knowledge of masto.

I'll definitely go and read Brieann's story now. I have not spoken to anyone since all this started who even knew of kids with possible masto without skin lesions.

Lisa I look forward to receiving your PM. Our haematologist/oncologist is planning on consulting with someone is Spain so I will definitely be in contact with Dr Escribano and find out from our doctor if that was who she is going to consult with.

Thank you again

A

Title: Re: My daughter
Post by Sandi on 03/20/11 at 17:22:28

Adele, there's tons of info here so I won't repeat, just want to make sure has Eosinophilic esophagitis been ruled out or eosinophilic disorders?
Also the codine has me a bit worried I think it's a major trigger for most of us? Am I right peeps? Oh if you haven't gone to tmsforacure.org
go there and download the emergency room protocol binder, it has a lot of helpful info, especially lists of medications that should not be used. Heres the link: http://www.tmsforacure.org/documents/Binder1.pdfHow is her diet right now? When I get on some foods that I avoid my bone pain comes back bigtime. Dont know if that happens to others on here. I retested cheese recently my itching (no spots) and bone pain was rediculous. I'd like to hope diet won't be an issue for her, I hate recommending it, but yet it has helped me incredibly.
I relate to your daughters funny feeling in her ears! Mine get this sort of pressure and then ring when I'm about to crash bigtime. The hardest part for her is her age and being able to identify and address an episode coming on. I was just re reading her story, I'd maybe be suspicious of foods. Lisa's contacts for you will be fantastic, I'm guessing your daughter is still in need of medication management. Does she tolerate benadryl? If so and you can get dye free benadryl have her try that ( If agreeable with her current medication load) the next time the abdominal issues come on. Allegra has helped greatly with my GI issues also, I believe quite a few of us, again that was combined with an elimination diet and medication and avoidance of triggers as best as possible. Welcome and educate yourself, as Lisa described you want to make sure she's being treated properly, this disease is not a common disease and there have been people put on the aggressive masto medications when they had indolent systemic masto. The docs didn't know the difference. So the more you know the better off your daughter will be!

Title: Re: My daughter
Post by ruth on 03/20/11 at 18:10:23

Hi Adele, I don't have anything to offer at the medical level, being very new to this and still figuring out if my son's health problems are related to a mast cell activation disorder, but just waned to say hi and add my welcome and encouragement to everyone else's. Your daughter is so fortunate to have a mother who is getting onto this for her in such an informed and proactive way, and to have doctors who seem switched on and working hard for you. There is a note about doctors in Australia in another thread, it sounds like you don't need new doctors but it may give them another specialist they can consult with if they need to. This forum is priceless for the information, clarification, support, advice and encouragement, not in place of but in addition to what you get from your medical team. I know what it is like to watch your child in pain and not know what to do for them, I do hope you come up with some answers and more effective treatments soon,

Ruth

Title: Re: My daughter
Post by Adele on 03/22/11 at 23:33:44

Ruth and Sandi thanks for your messages.

I hadn't really considered a dietary component to her current pain but of course there may be something there. How were you able to identify your foods, was it through restrictions and then slow reintroduction?

I don't think she has had any testing for eosinophilic disorders. She has had gastric biopsies but I am not sure if that is the test.

I did forget to say that I had asked the pharmacist about the paracetamol and codiene and he said it would be fine but then I got advice from someone else that it could be a trigger so we stopped her taking it immediately. She had only 2 doses in the end. I am not sure if we have benadryl here but again I will check with our doctor on Friday.

I have been to tmsforacure.org and joined their mailing list last year.

Kim I picked this up in Brie's story. "Neutrophilic Eccrine Hydradenitis (which involves ONLY the fingers and palms of her hands" For about 2 years between the ages of 2 and 4 Baeleigh had what we thought was severe excema on her hands. Her hands and fingers looked like she had burns. I wonder if it was Neutrophilic Eccrine Hydradenitis instead.

It is so hard to watch her being in so much pain - it is primarily retricted to her groin (lymph) region this week. She is only do half days at school and seems to be tolerating that better.

Thanks again

Adele

Title: Re: My daughter
Post by Riverwn on 03/23/11 at 06:42:07

Hi Adele!
I just wanted to welcome you and your daughter to the board and tell you their are are some brilliant minds here that will help answer your questions and the VERY BEST of hearts full of compassion waiting to give you all the support you need :) You arent alone anymore!
Hugs
Ramona

Title: Re: My daughter
Post by Adele on 03/24/11 at 00:48:35

Thanks for your welcome Ramona. I am so relieved to be here.

Seeing our doctor tomorrow.

A

Title: Daughter's pain, etc.
Post by Joan on 03/24/11 at 17:37:09

Hi Adele,

Just a couple of things to add. If she were to be found to have agressive mast cell disease and the C-Kit mutation, I don't believe Gleevec is indicated, and there are other better options, including a new drug called Midostaurin (PKC412). That said, I have had SM for many years, and probably had it in childhood, too, but have never had spots. Lack of spots doesn't necessarily mean aggressive disease. I had terrible GI symptoms as a child, as well as itching inside my lungs, itching without rash on my skin, sensitivity to all sorts of things, etc. I now think many things I ate cause my problems to flare.

Still, I agree with the others that what can appear to be aggressive, may only be uncontrolled indolent masto that is not being treated with enough antihistamines. I found that when I got on the correct meds and the low histamine diet that my pain miraculously diminished tremendously. It's amazing to me how sick one can be and still have indolent masto.

I would definitely do a trial elimination diet with her, using the low histamine diet:

www.urticaria.thunderworksinc.com/pages/lowhistamine.htm

If she can stay on it religiously, you might see a big change quite quickly. If she seems happy on the low histamine diet, I probably would leave her on it for the longterm. If not and if she were my child, I'd do a trial adding one "new" food no more often than once per week. It can take that long to get something out of the system.

Have you tried cool packs for the pain? I find that while warm feels better at the moment, cool gives longer term relief. Warm baths do seem to relax the muscles though. Some people, if they can tolerate it, do well on aspirin, but it triggers other people, too.

Hope you can get some answers you can trust really soon!

Title: Re: My daughter
Post by Adele on 03/24/11 at 22:25:07

Thanks for your post Joan. I am keen to hear any and all advice at the moment. I think perhaps that she does need her medications reviewed. I heard from Nancy Gould and she said that her dosages were low even for a child.

We saw Lydia today. Baeleigh's tryptase is in the same range as always but the rest of her bloods are still looking good except for a raised IgM which she has had a few times.

We spoke with Lydia first before bringing Baeleigh into the room just to discuss what the situation has been especially around pain and fatigue and our concerns. I asked Lydia to explain the monoclonal cells a bit further and what exactly that means and I said that I couldn't find much information for it in relation to mastocytosis but definitely regarding lymphoma and leukaemia. She said yes I can see why you would be concerned and she would like to try a second opinion by the doctor who did her bone marrow biopsies. She mentioned another abdominal ultrasound and bone scan with possibly another few days in hospital. She said that although her bloods were OK the fact that she continues to have symptoms is worrying. I am still really unsure what the monoclonal means for Bae, I know what it means specifically.

She had also been in contact with the same doctor in Spain as Lisa put me onto. I have emailed him and had a fantastic response and Lydia has had a good response from him also. They are going to send her bone marrow to Spain for him to review. They want Bae to start on the gastrcrom as soon as possible. Lydia is following that up to see if it can be imported in the next week or so. Apparently the process has already been started by David.

I have also contacted Nancy Gould and she has emailed me a couple of times with some good information and asking for further detail.

We met with Baeleigh's teacher this afternoon and she said it is very obvious that Baeleigh starts to struggle after about 1pm each day. We have decided to continue with the half days as a result. She is such a lovely teacher (just like the one we had last year) she was all teary about being worried about what to do to help Bae. I asked her about how Baeleigh was going with her school work and she said that she is excellent with reading but when she is very tired and in pain she can tell that she is struggling to write, is slow with writing and has difficulty thinking of ideas to write about.

Today I feel really helpless and unsure. Part of me wants to leave it with the doctors we are dealing with but then another part of me wants to just find all the information I can to help better understand what this means both in the short term and long term for Bae. She has barely had a painfree day in 6 weeks.

A

Title: Re: My daughter
Post by Joan on 03/25/11 at 05:16:57

Adele,

I can only imagine how hard what you're going through is. Still, you are doing everything right by contacting these new medical experts. Sadly, feeling helpless and unsure is part of the process until you get answers.

I have reservations about exposing her to more radiation or invasive tests (BMB) until a mast cell disorder specialist has reviewed her previous BMB. She sounds somewhat stable as far as her bloodwork, and that is good.

I wonder if she had a rest in the mid-late morning at school or came home for an extended rest and lunch mid-day, if she'd have a better afternoon. Also, sitting is notorious for exacerbating pain. You might want to consider asking for her to be able to get up and walk around and do some gentle stretches through the day.

Hope you can maintain faith that you are on the right road and things will be clear soon! I really hope the diet makes a difference!

Title: Re: My daughter
Post by Josie on 03/25/11 at 05:29:05

Hi Adele ,

Regards knowing there are 2 things ;-) What is bae wanting to know , is she asking questions and how much can you cope with right now ? If you feel information will help its here and other places . It may be too much to take in , so it will not help just now :-) Everyone here will still be here ;-) Do you do better with written info you can read over several times or diagrams as several of us here can provide the information in different ways .

Gastrocrom is a good drug to stabilise mast cells . many patients experience nausea with it to begin with. Some start on low doses then increase . I ahve learnt a tip from Joan , to sneek new meds in in tiny doses , that way , for me , my monkey ( idiopathic angiodeama at the moment ) does not notice and I can increase the medication to normal dosing level .

A discussion about anti sickness may be benificial . I dont tolerate metroclpamide ( maxalon ) but do tolerate cyclizine . I have just checked my bottle on out Brand cyclizine ( UK ) and it is useable form 6 yrs of age .

I am very pleased you have contact with Nancy Gould and the spanish doctors . Bae is in capable hands . I completely understand your concerns about pain . Where is Bae's pain ? Dependant upon whic is bothering her different meds can focus on those areas .

My pain is predominatntly abdominal and bone . H2 meds have made a difference to that , a big improvement as it has reduced my bowel swelling and it was this that was giving me stabbing and constant abdominal pain and swelling . Flushing still comes through to varying degrees . If its burning for me its a trouble is coming flush. I treat this with piriton .

My Bone pain is helped by singulair and piriton ( same class as ketiofen ) which has some mast cell stabilising effects .

My pain also makes me unable to concentrate or do anything ;-( as does brain fog . So Bae is reacting very normally to these things . So half days are a useful tool for you and bae . I am glad her teacher is so understanding .

I hope this helps :-)

Josie

Title: Re: My daughter
Post by Lisa on 03/25/11 at 08:21:53

Hi Adele,

I'm so glad that both Nancy and Dr. Escribano replied!! THEY ARE THE BEST!! :)

As to the monoclonal cells - Mastocytosis is a monoclonal disease, Adele - this is masto. If the mast cells were seen to be monoclonal and not some other cell, then you're talking about mastocytosis, dear. Were they in aggregated form, or was their shape changed? Either can happen with masto. But since you're sending those biopsies to Dr. Escribano, then you can RELAX 100% because the man is tremendous!!! He is one of our major researchers and he knows what's what!! He's also working with me right now and I'm waiting upon him to do another bone marrow biopsy, so don't worry, Dear, he'll help you find the answers!!

I have a suggestion for your doctor. I would recommend that you send to her Nancy's email. Nancy is a retired head nurse and has a master's in that area, I believe. Nancy has systemic mastocytosis and she also is a well respected lay researcher!!! She has a lot of raport with the researchers and they've got regard for her opinion. She's been helping masto patients for a good 15 to 20 years. She has helped me. I think that if you sent to your doctor Nancy's suggestions and comments, then she can run this past Dr. Escribano. Also, as to your daughter slowing down at about 1pm - Adele, this only makes total sense.

Although you don't have masto, haven't you noticed that after a full morning after you stop for lunch that all of a sudden your feet begin to drag. Well, you can't feel how drained you get when your mast cells and other cells are being drawn upon, but we masto patients can and do. Yet, if you, being healthy and normal end up slowing down after you eat, then you understand how the body is redirecting its energies to the digestive process. So, this drain is normal and part of the body's function. However, what is not normal is how very exhausted and run down your girl will feel. This extra drain is due to the need to add more histamines into her regime.

Some patients are shockers. I am, and I'll go from being perfectly fine one moment and flat out the next. It hit like lightening! Others are leakers, and they have these continual symptoms. However, neither group escapes the need for the continual antihistamines. And what happens is that there are days when we are more active and it therefore puts a larger demand on our system to counteract it, or perhaps her levels are just not high enough, like Nancy said, and she's not got enough "coverage".

You see, Adele, what you can't feel is the effects of the mediator release. When we take the antihistamines, this blocks the histamine reaching whereever it reaches and creating the reactions it causes. But when our levels aren't high enough or we've ended up releasing more than the usual amount, this means that the bucket has overflowed and is causing a mess - reactions. The sudden loss of energy, the malaise, the pains, the itchiness, the obvious brain fog (those slow thoughts and cognitive difficulty is brain fog). All of this are signs that she's in need of more meds, or that her meds be more spaced out.

My masto specialist had me make a switch with my hours for she noticed (because I write her updates of when I have major activity and she's been able to analyze them and see a pattern - smart woman!) that most of my attacks come towards the late afternoon. Well, I knew that, but I didn't understand the implications of it. so, she moved up my 6pm dose of allegra and put it to about 2:30, which was right about that time I would begin to drag and show warning signs. I didn't realize this. So then this has helped to cut back on some of the activity and she replaced that 6pm dose with a different antihistamine to go along with my other meds. It's made a real improvement and I don't feel that I drag so much.

I would suggest that your doctor introduce another H1, or H2 at her lunchtime at school. This will allow her to be a more normal kid in that I'll bet you anything that her recess activities were also robbing her due to the physical aspects and then come 1pm she's overreached her levels of antihistamine, they're no longer blocking it all, and she's feeling the effects! By adding that mid-day dose, she may be a whole different child and won't need to miss school!!

Also, another thing: KETOTIFEN. Is your girl on this? This, I believe, is available in Australia and it's a mast cell stabilizer. It will do what Gastrocrom will in stabilizing the MCs and is an antihistamine. However, Gastrocrom addresses more in dealing with the many gastric issues and it's a really good medication. But it can be cost prohibitive. I can't afford it Adele for it's outrageously expensive due to the need to import it!!

Just one more thing -

Adele, the authorities to masto openly tell us patients that there is absolutely NO RELATIONSHIP as to the amount of activity versus the severity of the disease!! It is very well documented where there are cases of aggressive or smouldering disease but the patients never had the slightest idea until they reacted to something or even an autopsy was performed! It is very well known that not everybody even has the slightest idea that they have masto and they go for YEARS AND YEARS with those spots and some funny reactions and then somebody notices. Dr. Escribano will cite to you case after case of systemic masto where the first indication of disease was anaphylaxis after a bee sting!!

And yet they will also tell of you of patient after patient who goes through all kinds of torture and yet they can't find any sign of the disease through the testing!! They end up having to judge it through the process of elimination and by the symptoms because they can't find evidence enough to support the disease.

So, although your daughter is still having symptoms, this does not in ANY WAY make her case to be either aggressive or even in risk of it. Your doctor doesn't know enough about masto! My dermatologist will tell you that what they judge the severity of the disease upon is that of the CBCs and the tryptase level. The tryptase level indicates the amount of mast cell burden. The higher the levels, the greater amount of mast cells within the bone marrow. There are few exceptions to this. Your doctor need to keep an eye upon liver function, kidney function and pancreatic and spleen function and the sizes of these organs. However, if her CBCs are now showing any kind of anemia and all seems to be within the normal ranges or even borderline ranges, then please, sit back, give a huge, THANK GOD and a BIG SIGH and RELAX!!!

I hope this brings you some comfort!!!

Lisa

Title: Re: My daughter
Post by Lisa on 03/26/11 at 01:01:47

Adele,

I need to make a correction to my statement to you. I often wish I had a spell checker which could comprehend what I write and alert me to when I've made a mispelling which changes what I'm trying to say!! I made a mispelling which changes the meaning in a big way and Joan caught it for me! Thanks Joanie!!!

Towards the last lines in my note to you I was speaking about your daughter's CBCs and I said that they are "now" showing anemia.
OOOOOPS!!!!!! THAT was the misspelling!!!!!!!!!

I want to say that your daughter's CBCs are NOT, repeat ARE NOT showing any anemia. THIS IS GREAT!!!!

This is what I want to reinforce, for the CBCs in us are the markers for how our health is and how the disease is affecting us overall. It doesn't reveal the size of the mast cell burden, but it does show how much we are being affected by the disease. And even then, this may apply to only those patients who have the aberrant mast cell disease.

Let me expand a bit for you.

Researchers have come to the place of believing that there may be two forms of this disease - the clonal or monoclonal for of mastocytosis, which is a PROLIFERATIVE (too many) disorder and then there is what they call the non-clonal and that is called an ACTIVATION (too reactive) disorder. The problem is that there has not been performed enough research to understand the Activation disorder and they don't know if the proliferative one is a combination of activation and proliferation or of merely proliferation (too many alone.

Until they can begin researching the activation patients and really gaining understanding and insight on this form, they also aren't quite sure whether these patients are a "pre-proliferation" stage of the disease, or if it's truly a seperate entity. More research is showing that it seems to be a separate disorder.

Well, if those who are MCAD - mast cell ACTIVATION disorder - and really do not have the over production that the mastocytOSIS patients have going on, then this is really a very good thing for the MCAD patients.

Because of the lack of research on the Activation (MCAD) patients, the researchers don't know yet exactly what the problem is here. You see, those who have the proliferative disease have plenty of activation going on but they don't know if this activation is due to having way too many mast cells all going off at the same time, or if these defective mast cells are also activated. Until they can sort this out, they're not certain as to how the MCAD people are either. Yet, because of the lack of research on the MCAD people they can't tell if they are pre-proliferative and if the clonal aspect is there or not. Some of the research indicates that there is indeed the defective gene to these patients, but there's a lot more information which they are lacking.

But, if the MCAD patients are truly not part of the clonal form/proliferative form, but instead it's just that their mast cells are not behaving properly and are just hyper-active kids, then this means that there is not the damage being done to their bodies that the clonal form does. The clonal form invades the different tissues merely because it's like an overcrowded slum and they end up crowding out the other cells. But those overly active cells cause other types of damage in that they release their mediators all the time, but they in theory would not cause the damage which the clonal cells do by not invading the tissues.

This is why the mediator markers: tryptase, histamine, prostaglandines are so necessary for when they are present, then they indicate that this is possibly the clonal form of the disease. But this is still something that they are not sure of, so don't quote me on this. But when it's absent, then this may be the sign that it's not the clonal form but just the activation form instead. Yet research is still needed.

How can I say this - yes, I'm making some presumptions here, but this is due to some of the recent research that is coming out having to do with IA patients whom they didn't think had anything to do with mastocytosis and on the MMAS patients they've also recently discovered. These patients have rocked the boat to the mastocytosis researcher's theories and assumptions about this disease. These two groups are different and they force the researchers to rethink everything.

Dr. Akin discovered about 3 or 4 years ago that there are IA patients who don't show any signs of mediator release - their exames come back totally zero and they don't have any pathological changes going on within their body, like chronic inflammation or other things. But when he was able to very closely examine the mast cells (the few he could find) they looked totally normal, but in truth they had the same genetic defect on the MCs as those with the clonal/proliferative disorder (systemic mastocytosis). This shocked everybody! Dr. Akin is a boat rocker doctor cause he dared to think outside the box with this one! Well, then as this new technique of examining patients with no obvious clonal activity came about, they began seeing that another group was present. These were patients who showed some kinds of signs of mediator release, such as high histamines, but they curiously had low or normal tryptase, but they also had pathological changes, but for some reason, they couldn't find the mast cells to explain it and these patients were odd because they know where they fit in. These patients seemed to indicate that there was a pre-clonal stage of the disease, but even then, they weren't sure. Then when they used the new technique with this group, they found that indeed these patients were what they called mono-clonal and seemed to have one foot in both camps, that of the SM patients and that of the MCAD patients. And like the IA patients, the genetic defect is present on the mast cells!

So, all of this research has brought some clarification, but yet raised more questions than they've answered. But what it does seem to say is that there may be what seems to be a separate category here in that there may indeed be two seperate forms of the disease, that of a PROLIFERATIVE form and that of an ACTIVATION form and those who are of the ACTIVATION form are really not in any major threat for without the invasion of the mast cells, no major organ damage is going on, or at least, that's what seems to be the case.

This means, Adele, that there is no invasion of the bone marrow, none of the blood producing organs either like the spleen, pancreas and liver. This is why these patients don't seem to show any kinds of anemia for their blood production isn't being affected.

This is why they keep such a close eye on our CBCs for those are the window to our overall health. Now, there may be some borderline issues, for you must remember that masto, be it the proliferative or activation form causes a lot of mediator release and activity and these things alone create problems with malabsorption and anaphylaxis and other problems and these are very hard on the body. They can cause anemia just due to how much activity goes on, and this could be causing some changes within the CBCs which is why you need your doctors so much for they have how to know what else may be affected and thus causing these issues and by doing other tests they can see what those issues may be.

So, a long lesson, but I hope that it brings you some peace. No CBCs screaming at your doctors means apparently NO aggressive disease! Now, again, I'm not 100% certain of this, but this is what it seems to indicate.

So again, BREATH DEEPLY, give a BIG SIGH OF RELIEF and RELAX!! Adele, if Dr. Escribano is in on this then you can RELAX and let him guide your doctor. She won't be suggesting chemo any more for I'm CERTAIN that she will only do so if he suggests it. Besides, your having spoken with him for yourself and his having your doctor's involvement means that you have access to him and can question him as to your doctor's decisions for your son and he will be able to either confirm or contradict what she's doing. This is perfect!!! You've got the means to check on your doctor's decisions and have some peace of mind that she's truly doing the correct things for your son.

So BE AT PEACE!!! :-*

Title: Re: My daughter
Post by Adele on 04/03/11 at 00:43:15

Thank you so much for all your replies and information. The past week has been crazy hence my absence.

Lymphoma became something we were looking for earlier in the week and Baeleigh ended up having x-rays, ultrasound and an MRI. She has some thickening of her intestine but everything else was fine. We are trying to import Nalcrom which is proving to be a little difficult. The pharmacy called me on Friday to say they were not allowed to set up an international account and recommended I import it myself. I will follow up with our doctor in the morning.

Baeleigh will be seeing a gastroenterologist in the next week or two and he is going to review her medications.

Nancy recommended ground tumeric for Baeleigh's exhaustion and we started it on Thursday. She does seem to have more energy. I am not sure if it is related to that or that she has been resting for 2 weeks and is coming out the end of this episode.

Our doctor mentioned osteoporosis a few times on Friday. I'd be interested in what is anyone's knowledge of osteo and mastocytosis?

In answer to a few questions, Baeleigh is going to start seeing a counsellor again who she saw last year. She was excellent and we think it is a good time for Bae to see her again.

Baeleigh's pain lately has been more limb, joint, groin and axilla. Her other pains are abdominal and headaches.

Baeleigh is not on Ketotifin. I haven't heard of this.

I did share the emails from Nancy and Dr Escribano with our doctor.

Thanks for the recommendation of antinausea medication. I will keep that in mind for when Baeleigh starts the Nalcrom.

I do better with reading information that I can go back and cover a few times to get clear.

We have talked with Bae's teacher again last week and between the three of us we are hoping to react more quickly to her pain and fatigue by reasting her quicker than we did this time to see if the duration of these issues is lessened as a result.

Thank you again for all your input, it is so very much valued.

A

Title: Re: My daughter
Post by Riverwn on 04/03/11 at 09:16:28

Hi Adele,
I would like you to consider contacting the school board and having them send a teacher to YOU (3 days a week). . I did that when my daughter broke her leg and couldnt go to school easily. It just seems they should work themselves into Bae's schedule not her fit into theirs.. It would be so much easier on her (if you can). Good luck Hon.
Hugs,
Ramona

Title: Re: My daughter
Post by Adele on 04/08/11 at 01:47:55

Thanks Ramona! :) I will definitely consider that as an option in the future. I am not sure what options we have in relation to school here in Australia.

Bae is starting the Nalcrom tomorrow morning. I ended up contacting the pharmacy director where I work and he arranged the import for us. We got it here in 24 hours!

A

Title: Re: My daughter
Post by Lisa on 04/08/11 at 12:30:42

Mast can and does create problems/lesions within the bones that being either osteoprosis or that of osteopenea. It will also cause degeneration of the discs as well as spontaneous fractures. Her bone pain could definitely telling a story here and it needs attention.

Since she's young, Adele, I heartily recommend increasing her dairly intake. If she does indeed have SM, then her bones may be definitely affected by this. If osteoprosis is seen to be happening, then your doctor needs Dr. Escribano's help because of the fact that children need extra calcium for their growing needs, but in a case like her, I would think shé'd have to go over what a normal child's daily requirement. I'm sure, however, that your doctor will work this out with you and Dr. Escribano. But I think that with all the pain she's complaining about, it's a very valid area to investigate just to make sure she's okay. Not all of us have these issues, so even though there may be some pain and discomfort, it doesn't always indicate damage. Perhaps it's just activity of the mediator release. You see, this happens too for histamine has been found to go directly into the nerve receptors and affect them, so by blocking them, you help to improve on the pain situation.

Talk with the pharmacyst about Ketotifen!! We call it cetotifeno, but that's what it's called in the romance languages. Definitely check this out, for it's way cheaper that Gastrocrom!!!

Keep up the good work Adele in pushing for those answers!!! keep talking with Dr. Escribano! He's truly wonderful and now that he's working with your doctors, you can RELAX for he'll keep involved!!

Hugs!
Lisa

Title: Re: My daughter
Post by Joan on 04/08/11 at 19:18:20

Hi Adele,

Masto can cause a couple of different types of bone lesions as well as osteoporosis. A DEXAA scan can determine if her bone density is normal. A bone survey (x-ray study) is used to determine if there are any other types of lesions in the bones.

Also good, if she'll eat them, are leafy green vegetables, as they have both calcium and vitamin K in them. Tofu has a good amount of calcium, too. Calcium citrate is one of the best absorbed forms of calcium. The supplements are big, though, and swallowing them might be a problem. If you can find it in a powder or capsule or liquid form, you might be able to hide it in a drink. Calcium carbonate can be constipating and not well absorbed sometimes. She also will need vitamin D supplementation. If she hasn't had a DEXAA yet, then I wouldn't recommend starting any supplements until she's had one. If she has and actually has an osteoporosis diagnosis, then ask her doctor or research how she should be supplemented.

Title: Re: My daughter
Post by Josie on 04/09/11 at 00:04:26

Hi Adele ,

I am not going to add more to what lisa or Joan have advised other than to give you my experience .

I was on very very large doses of steriods for a year , while the doctors sorted themselves out I was very under medicated and steriods were my rescue plan . With this came the risk of osteoprosis / osteopenia . So I was sent for a dexxa scan - all ok . How ? The only thing I can think of is the large volumes of milk I had been drinking . I was diabetic but not diagnosed so I was pouring pints of milk down , 4 a day .

You don't need to go this far !!!!!!!!!!!!! It was all I could drink apart from water , as I was reacting to all fruit juices both fresh and from concentrate . From concentrate drinks are no my naughty list as they contain sulphites in the concentrate , often not labeled . They also love putting sulphur dioxide gas in the tops of the packages to keep them fresh . if I inhale this it is a straight to A&E for me ( with paramedics ) with 2 Epipens in quick succession .

With careful mangement of foods I now aviod the majority of these situations ;-) My partner has a naughty box and drawer in the fridge for his things . I can't even put a lid back on a jar of , vinegar and sulphite filled mustard , without flushing and coughing . Mustard itself is lovely . Its just all the junk in it .

Yeah , all my doctors were shocked at how I had avoided osteoprosis / osteopenia . I will need a repeat dexxa scan in a year to check this has remained so ,

My bone pain is consonantly present . But it fluctuates , on days when it is really bad I am pale , shaky and can't type or hold a pen . The pain comes through my analgesia and is worse in my long bones , thigh / upper arms and hips and shoulders . I am interested in what Lisa said and will raise this with my doctors . I have had a full back survey by MRI as central lower back pain has been with me since this began , getting worse - unil decant analgesia came my way . I was in constant teeth gritting pain , esp in my ribs and lower back , unable to take a deep breath in or stretch round to the side to do normal jobs . . managing an hours sleep at a time .I can point to the spot where I think I have active mast cells . It has remained the same since august 08 . Now I am like this in the morning before my pills start working , on very bowel active swollen days and when my bone pain is very bad . I am often dizzy as well and can't sit forward as my abdo muscles shake and I am jiddery . So i stay in bed until this passes . Compliment sub chamicals and prostoglandins I feel are responsible for the shaky muscles .

I have associated some of my limb pain and back pain to swelling muscles / internal organs , which holds , but these pains are deep set and not crampy / sharp , as muscle pain can be .

I am also interested in lisa saying histamine directly affects nerves , it is known as a neurotransmitter ( chemical at nerve endings between 2 endings which conduct the signal ) . I have hald back from any drugs for neuropathic pain as I had problems with duloxitine . Over time I ahve discovered here that messing with serotonin , even if it is low . I don't know mine as yet , is unadvisable . Duloxitine is a sertonin affecting drug . I can't take the new version of gabapentin as it mixes badly with my painkillers .

But , in an ideal world I want to be off these . I will discuss with my doctors a plan to treat my abdomen with gastrocrom and my neuropathic pain ( nerve pain ) with gabapentin , in the hope I can get to the point the causes are treated so the pain will be controlled and allow me to wean from oxycodone .

After i saw Dr Grattan I tried weaning by 5 mg overall a day . My current dose is 15 mg . 15mg am , 5 mg 6pm and 10mg pm . i was crying in pain at 24 hours . So I am staying on this dose for now . I have tried buscopan ( hyocine butylbromide ) but it interacted with my antihistamines and i slept like a baby . I tried loperamide and reacted .

Pain is a huge degranualtor for me , so treating the cause is my best way forward . Does anyone have any papers on pain as a trigger . I know this in me , but I need referring to Pain team again and my GP is loathe to as he doesn't see what benifit I can get . Is buprenorphine considered a safe as its going to be drug , as I recollect using this for patients with neuropathic pain when i was working . Dr g said oxycodone is the best of a bad bunch . Tramadol is on my naughty list , but I don't know if that is for the gelatine and maize or the drug itself . My tounge swelled , so I can't try a different preperation at home .

many hugs
Jose

Title: Re: My daughter
Post by Riverwn on 04/09/11 at 05:34:35

Josie, you need to get you gut under control--and your entire pain level will go down then. I doubt you will be totally free of pain, but it will be more controllable and you will require less of it to be pain free. I dont think you raised your zantac (ranitidine) level yet to what most of us take?? 300 mg twice a day. Try that it helps me emmensely.

Adele, the only thing I would add to what youve been told is that the bone pain will be more manageable if Baes antihistamine level is tweaked perfectly. You have one of the best doctors in the world working with you, I would ask his advice on that.

Love and hugs to you both!
Ramona

Title: Re: My daughterP
Post by Josie on 04/09/11 at 07:18:07

Hi Ramona ,

I did sweets, but my GP asked me to drop it ;-( . I will do so again and buy the extra doses OTC . It has been working ;-) I need the specalist so he can instruct my GP about good doses as he is flailing about in the dark .

Thank you ;-) I am so fed up ;-( of the pain . I have accepted my condition is long term . But , still want the symptoms sorted . Its about not being able to drive . piankillers and pain = not safe . I know that with my shock the dvla ( driver an viechle licencing agency ), may well revoke my license . I am not driving now , but suspect they won't let me once they know .

I am stuck in , housebound unless I have someone to come with me and carers . So I am looking at a mobility scooter , which will be good , freedom . But...........................................................

Jose

Title: Re: My daughter
Post by Riverwn on 04/09/11 at 14:21:51

Josie, all I can say is, YOU GO GIRL! Let the specialist fight it out for you. Here the DLV doesnt task our licenses for going into shock. They will certainly give us trouble for driving under the influence, and that is our pain meds.. I am in the same boat.

I have family who live less than 1 mile from me (parents, 3 sisters and daughter). I do drive very infrequently to town 3 miles away and back, but the walking in the stores kills my back and legs and I am gasping for breath at the end of it. I much rather give family a list of what I need and they get it for me and I relax :)

I did get a walker with wheels and a built in seat last week.. boy that hit my ego, but the seat is wonderful. Glad youre doing better Hon.
Hugs
Ramona

PS temps in Florida are already in the 90 degree range. This summer is gonna be a hottttt one.

Title: Re: My daughter
Post by Riverwn on 04/09/11 at 14:23:24

ops that is 2 sisters, no editing here gor my spelling :)

Title: Re: My daughter
Post by Josie on 04/09/11 at 23:32:47

Hi Ramona ,

Thanks doll ;-) i do online shopping ordering . I haven't been in a supermarket for 18months now . I reacted to something on my wheelchair wheels , which I touched , then touched my mouth . It was a quickie , so i let others shop for me now ;-) I couldn't walk round now . I used a zippy cart in asda ( our walmart ) and it was so lush . Operating at normal walking speed or slightly faster . Unf asda use something to clean their chillers which makes my hand flush . They also have poor labeling for sulphur dioxide in drinks which got me the next day . i won't even shop online from them . The clothes are good though so I buy those . i was watching a clothes programme the other day and they said department stores spray the bakinis with sun tan lotion for the smell , so beware anyone who is sensitive . I suspect they do the same to other clothes with scents .

I was having a bit of a blah day . Blah ? just kind of fed up , can't put your finger on why , the other day .

I have some news though ;-) i am waiting to hear on a bungalow - ok in principle , just waiting for guarantor checks as I am on disability . My landlord here has refused my adaptations , ramps key safe etc . So I am off . i will have everything in my new place . The key safe has been worrying me as my shock is quick to my chest and airway . So often I can't speak and certainly can't get to unlock the door . This has caused all sorts of problems . I have had to buy specialist insurance in case the paramedics have to force entry . mainly I have been worried that if i shock in the night they will struggle to find my address as the numbering is seriously illogical . Like 179 one side and 177 the other when I am 181 .

So , I will attach my key safe , by the front door of my new place and be able to feel safe and not worry . The ambulance service have the code and I have an emergency call button i wear in case I can't speak .

I will also have use of my garden . I have plans for veggies , potatoes and a herb garden . A gazebo , with my fan in for shade and cool ;-) I am not adverse to wearing a mask , where I can't be seen for inhalants purposes ;-) So I can have Food that I know where it has come from ;-) The neighbors have just installed a hot tub in there's so I guess they are friendly types . I hope so as I am isolated still here as most of my neighbors work and aren't chatters . I have friends here , but I have days where I only see the carers . I am a people person . There is only so much time alone that is healthy .

Summer has arrived here in spring , so , the summer weather is any ones guess ;-) I spent 2 summers in hospital , so am looking forward to this one , though suspect my fans will be on full blast ;-) We have got a car with aircon now , so trips out will be easier . Aircon in stores is the exception rather than the rule here .

I am trying to contain my excitement , as I know it could set me off ;-) but am glad things are happening positively for me ;-) MY planned move day will be 3 yrs since my life started to go tits up . 28th April .

Jose