Since we have this brand-spanking-new website (thanks Deb!), I thought I would take this opportunity to update my "story."

I didn't know I had a mast cell disorder until February 2009.  I felt "fine" for most of that day.  In the afternoon I had a cup of hot tea with a friend and I felt strangely dizzy... but it went away and I was able to pick up my daughter from school, no problem.  For dinner I had a big bowl of leftover soup.  About 20 minutes later I thought, "Why are my hands so itchy?"  I went into the bathroom to get some lotion and noticed that my face was covered with hives.  Then the real fun started... nausea, diarrhea, racing heartbeat, intense abdominal pain... I came very close to losing consciousness.  Since my husband had his cell phone turned off, I called 911 and told them, "I think I'm having an allergic reaction!"  They sent an ambulance and I threw up all over one of the EMTs... that will get you a ride to the ER in a hurry.  It was an obvious case of anaphylaxis.  I was 33 years old.

What kind of adult suddenly develops a life-threatening allergy?  My first allergist wrongly diagnosed me with allergies to celery, peanuts, and almonds, even though I hadn't eaten any of those foods that day.  Without even looking at my skin, her husband (also an allergist) told me I couldn't possibly have mastocytosis because I didn't have any of those "spots" (urticaria pigmentosa)... and anyway, it was so rare.

After two more trips to the ER, I fired that allergist.  The second one figured out that my only allergy is to myself... seriously!  My immune system is making antibodies to the high-affinity IgE receptors on my mast cells and basophils (FceRI).  My mast cells are normal, but these antibodies cause them to be very trigger-happy.

I started taking daily doses of H1/H2 antihistamines, and that kept me out of the ER... but I felt horrible.  I was having constant problems with nausea, diarrhea, headaches, joint pain, fatigue, dizziness... not good for a mother of two with a full-time job.  I was starting to wonder how much longer I could keep working without applying for disability.  Since I also had a few symptoms that nobody could explain... petechiae, swollen lymph nodes in the absence of infection or malignancy, etc... I decided to see a very high-level doctor, a hematologist researcher who specializes in rare disorders that overlap between the immune system and the hematopoietic system (bone marrow, blood, lymph nodes).  He's the one who finally connected all the dots and gave me the answers I was looking for!  He also added Singulair to my mix of medications (which by that time included Zyrtec, Claritin, Zantac, and Gastrocrom).  Last fall I increased the dose to 30mg/day, which required a fight with my insurance company... but it was absolutely worthwhile.

In addition to taking medications, I've also made some changes in my lifestyle.  I'm on a gluten-free, low-histamine diet (gluten gives me terrible abdominal pain and causes bleeding), I've become very aware of my triggers and take extra medication at the first sign of symptoms (I no longer wait to see what happens!), and I avoid the triggers I can avoid as much as possible.  Stress is one of the big ones.  I'm realistic about my schedule and say "no" to a lot of things... I get a massage once a month... I take naps... I've also grieved for my "normal" life and worked hard to find a new normal that I can be happy with.  Right now I'm feeling GOOD  The mast cell disorder hasn't gone anywhere, but I've learned to live with it.  

At the moment, there's no diagnostic code for this orphan disease that I have.  My hematologist calls it "autoimmune mastocytosis."  I'm sure the mast cell researchers would call it MCAD.  It took me almost a year to get a diagnosis... I know what it's like to suffer without one.  The best thing you can do is educate yourself and learn to look for answers in the right places... there is hope!!!

Heather

Heather,

I have some questions about your "autoimmune mastocytosis" diagnosis:

In your opinion, at what stage of a diagnostic workup should someone be tested for this mast cell disease variant?

What are the tests that should be done and which labs do them?

Is there any difference in the treatment protocols for "autoimmune mastocytosis" versus other forms of mastocytosis/MCAD?

Buster

Heather - I replied to you on the other thread but is National Jewish the place for me to send blood to get the auto immune test you mentioned?

You have helped me SO much with this reply.

I have recently been found to be totally deficient in Complement 2. This implies an auto immune disorder most likely lupus. I am about to try Plaquenil which you mention. i am terribly nervous about htis - though it is a benign (ish) drug - I react very badly to all new drugs - they give me angioedema. So I have everything crossed.

Do you know anything else about lupus and MCAD??

Also a lightbulb went on - my symptoms all began after a hysterectomy.

Ooooh - Xolair - been looking at that - but would I not have to have a high 'allergy' level to be helped (all my allergy test are negative).

Sorry to bombard you - but you are so knowledgeable and it all fits with my profile - thank you so much.

Hi Heather

Wow - you are good at this, I know you are not a doctor but do you have a medical background?

I will definitely look into Xolair in the UK.

I have had an ANA but not with reflex. It was negative but I understand that is far from conclusive.

I am concerned about Plaquenil as my body reacts so badly to ANY new drug. I tried Gastrocrom recently and swelled. No one has heard of this happening! I have the same trouble with food - it is as of my body rejects anything new.

I have terrible joint pain and flu like symptoms - I have had them for 10 years and was told I had fibromyalgia. My mum had multiple sclerosis. So interesting all these links.

Heather,

Thanks for taking the time to send that informative and interesting post on "autoimmune mastocytosis."

Buster