Thank you for allowing me to participate here.

Recently I joined a few facebook groups that talked about their experience with Mast cell disorders, and for the first time it sounded like I found folks who knew my daughter.

My daughter saw the allergist for skin testing at 9 months- and for the past 17 years it has been a battle.

For a long time no one knew what was wrong with her- I was left to my own devices to do what I could.  I relied heavily on Allergists.  We sold a house because of worry over cat contamination.  We moved across Country hoping a different climate would help.. we have seen hundreds of Drs.
At 15 they found she had had mitochondrial depletion.  But, that just doesn't explain the "allergy" issues..

She reacts horrible to scopes(GI, about1- 2 days after a redhot mess for a week), she reacts horrible to stress or fatigue(weeks of misery)anytype of local like lidocaine freaks her body out,She is deathly allergic/reactive to all NSAIDS, recently we had to remove Miralax.. we have tried every compound pharmacy to get safe vitamins and within a day or two she starts reacting.. endless.

She will faint and hive in the shower, she doesn't tolerate heat or cold..
The list of foods she cannot have either from immediate or delayed reaction grows by the day... Even benedryl is making her react..

We have always described her reactions as "rotational"  she can eat something for a day, 2, maybe a week and suddenly "flares" for weeks..

She is having problems with her kidneys,pancreas, GI(only found gastritis and she has significant malabsorption)

Also, she will have a year here and there where she does reasonably well and tolerates a lot-

This doesn't fit the Mito symptoms- but recently it was pointed out that she does have a lot in common with some Mast patients.

We wrote Dr. Verstovsek here in Houston and he said he would take a look at her- hoping if it is Mast he will be able to tell us at least whether we are on the right track.  So calling for an appt today.   I have hesitated for a couple months to go down this path, I hate to put her through anymore, but she was so flared all winter she lost a lot of weight and is so limited on food.

She is reacting to dairy,soy,corn,nuts,shellfish,tomato,miralax(Peg allergy), and NSAIDS and Steroids(she gets diabetes from 1 dose) and lots of other stuff.. It has been tough to cook!
For the last 2 weeks we have have cooked "clean" and minimized airborne allergens and tried to eliminate what is listed as high histamine- and she has shown terrific improvement- still sick but even her lab work looked better.  

Hoping we are on the right track and this dr. will at least be able to point us in the right direction,

Dinydeek

Thanks! I try to do the right thing like we all do..

I have to admit, addressing the allergies/ potential mast issues has meant going against her standard Drs(once you have "mito" they only see "mito", probably like have mastocytosis, they probably blame all the other stuff on it?)... they just don't "believe" she could be reacting to so much... I feel frustrated often enough.   Even when her proteinuria is clearly dropped down to very little with the elimination of a million triggers, I still get the look like my theories are "nuts"..

Ah well- we all have our own journey, and I am always glad to know others that have their own journeys too!  It helps!

Alright- off to make her "bread"  thank goodness for coconut flour!  

Thanks so much Lisa-

We saw so many Drs to find the Mitochondrial Depletion diagnosis(local mito specialist said not mito, when we changed Neuro's they did the second biopsy and found the mito depletion syndrome) so we are kind of used to being told no, despite my Mom gut

We are still waiting to hear back from his office.  He agreed to see her via email, but his Nurse is giving us some grief- I bet he is busy and she is just trying to do her job- but, he said he would see her.  Hoping the Nurse will call today, if not I will pest her tomorrow

We fly to atlanta, so if I had to take her to China to figure this out- I would!  I KNOW that her quality of life is so improved with the interventions to remove histamine foods,allergens, and foods that trigger histamine release, that we are on the right track- I figure he may say not Mast, but then we will get on the waiting list with one of the two you mentioned to just make sure it is completely ruled out.

Second and third opinions are so important with this more difficult to diagnosis diseases- doesn't make a Dr. bad for not finding it, but sometimes it just takes a different take on everything.

This forum is terrific!  

Diny

Hi diny, and welcome to the forum!  

  If she can fly, I recommend you make an appointment in Boston, and take her to see Dr. Akin or Dr. Castells.  They can rule in or out SM, MCAS, and other disorders as well in one appointment.  Her allergist or GP can talk with Boston in advance and find out what tests can be done before an office visit, such as tryptase and tests to rule out pheochromocytoma and carcinoid syndrome, which have similar symptoms.

  Has she been tested for Crohn's disease and/or Mastocytic Enterocolitis?  It sound possible, since you're making special bread, but just wanted to make sure.

  Rotating foods can help with reacting.  If she has enough tolerable foods, spreading out eating each food for only one day out of 3 or 4 might help.  Is she on any H1 or H2 antihistamines?  I may have missed it, but if she isn't, they might give her some relief.  Is she able to take antihistamines?

  You're doing a great job trying to help her.  Lucky young woman!

Hope the appointment goes well, and you get some answers soon!

Good luck,

Joan

I am so sorry to hear that you didn't get anywhere in your investigation with this new doctor. . Here is my philosophy in regard to getting better: I figured that for myself I wanted to get better and get on with my life (I wasted 10 years being sick and misdiagnosed!!).  Once I discovered the term mast cell disease and that fact that I might have it, I then decided to find out who the best docs in the country were for it. I believe in going straight to the top and not wasting time with docs who are closer to my city or less expensive to see. If I had to keep seeing doc after doc because they were in my state rather than travel across the country to see the right doctor who could help me...well, that would be a waste of my time and money. Ultimately you save time and money by going straight to the top docs, in this case Drs Castells and Akin in Boston. One visit can get your daughter on the right track and entirely change her life for the better. That is what happened with me, I am happy to say. I went to see Dr Akin. He suspected Masto or MCAS (in my case, IA). He put me on various histamine blocker meds and I got so much better! He continued to help me via email and now I am good on my own without needing his help except for the occasional question or problem. So I would suggest getting an appointment in Boston!

Thank you guys!

Dr. Castells is at the top of my list-

With her neuro muscular disorder we went through a long journey(15 years) to get a diagnosis, and after many Specialists visits locally, we finally took some advice and decided to travel to a tried and true specialist in Atlanta- thank goodness we did!

So, even though traveling is taxing, I think it will be well worth it.  Hard to diagnosis disorders take a special kind of Dr.  and with everything our daughter has been through, and how hard we have fought to get her on track this year, a trip to Boston doesn't seem too terrible!

But, I hope I gave the Houston Dr.(never remember how to spell his name!) a fair shake- if your SM has turned cancerous- I am betting he would be the best Dr. for those patients- the fact that he is so single minded is a good thing for those patients- having the absolute worst possible complication of Mast deserves a very focused specialist, and I don't doubt for a second those patients would get this Drs absolute attention-  

I am still poking around trying to find a "point of care" here locally first- that way she has someone willing to listen to a specialist and will make her care easier.

You guys are terrific!  Thank you!