Hello!
Here's my story in brief:
* I'm a dancer, wife & mother of two little girls
* I have Ehlers-Danlos Syndrome (EDS), Classical type
* Both my mother and girls have EDS and are showing signs of
  possibly having the mastocytosis issues that I have - my mother
  most severly.
* I'm in the process of getting a mastocytosis diagnosis
* I am having increasing numbers of:
    ~ sinus infections & other upper respiratory infections
         (the docs have tried everything to get rid of the inflammation,
         and they aren't working - I'm at the point of needing to try
         specialized drugs for mastocytosis patients)
    ~ GI track issues
    ~ I have a history of cysts and fibroids (uterine, liver, pancreas,
         ovaries...)
     ~ I have various skin sensetivities and weird reactions to things...
* I've been tested for allergies and it looks like I have none
  - even to the things that I get sever allergic type reactions to.
* I'm currently waiting for my first tenacin X blood test results
* My allergiest/immunologist has done all he can and is ready to refer
  me to a specialist; my rheumatologist has something to try since she
  has a touch of experience with mastocytosis patients; but I would
  like to get an experienced mastocytosis specialist in my roster of
  doctors.
So, that's about it.

Hi Christi,

Welcome to the forum!

  If you (and your family) are well enough to travel to Boston, that's where most of the research and diagnosis of mast cell disorders is being done, at Brigham and Women's Hospital.  Dr. Cem Akin and Dr. Marianna Castells are the leading researchers in the U.S. on the subject and see many patients.  You can either email them or call the Allergy and Immunology Department at B & W to ask for an appointment.  Dr. Akin sees primarily  systemic mastocytosis patients, while Dr. Castells also sees mast cell activation disorders.  If your doctor calls, he/she may be able to get you an appointment, or you may need to have some additional testing done, depending on what's been done already, especially to rule out other possible causes of flushing and other symptoms, e.g., carcinoid syndrome and pheochromocytoma.  

  Some of your symptoms do point to mast cells, and there are some people with EDS on this forum who also have mast cell disorders.  I'm wondering if you've been prescribed any antihistamines and/or mast cell stabilizers yet and if you're aware of the low histamine diet.  Those are the basis of treatment for mast cell disorders, and some patients begin medications to control symptoms before they have a diagnosis.

Hi - thank you for the replies.

* FYI - I'm having vertigo tonight (like the last 9 nights) so I'm not clear-headed.

* I live in Altoona, PA (2 hrs. due east of Pittsburg) - I'm willing to travel if needed

* as for specific testing for mastocytosis the only one I know of that is specific that I have had done is the tenacin X (which I don't have results for yet)

- I have had innumberable CTs (sinuses), MRIs (brain, eyes, torso), MRAs (brain), and X-rays (whole body), cardiac stress test, ECHOs, and EKGs of my heart.  Everything comes back 'normal' if you discount: that I have a Fetal type Circle of Willis in my brain, I have the cycsts, fibroids and polyp, I have very minor MVP.  My untrained eye says that I might have Chiari - but I haven't followed up on it yet.  Additionally I have POTS, migraines, TMJ, cervical instability, instability of all my joints really..... and I'm having every vertigo symptom in the book (though the docs can't agree that I have vertigo, or what to do about it).  My sinus CTs indicate that I don't have inflammation, but I feel the inflammation, and I get the recurrent sinitus.

- blood tests: though my sed rate normally is somewhat high, it's not obnoxious (don't ask me what it is), all my thyroid tests and diabetes tests come back normal, all the immunology tests (both by immunologist and rheumatologist) come back normal...

* have a copy of the updated criteria for mastocytosis diagnosis which I got off of Dr. Diana Driscoll's website, but I haven't yet  started checking things off.  When I have my appointments with my allergist/immunologist and my rheumatologist in March I figure I'll start getting them working on checking things off for me.

Christi

Have you had a tryptase done yet?

Your MVP could be in keeping with your JHS/EDS III

Keep us posted on your results and hang in there!

Christi,

I'm new to the whole mast cell thing, but I do know something about vertigo...I suffered from bouts of vertigo for a year and a half before FINALLY seeing the right doctor while I was in the middle of an episode (do your bouts seem to calm down after a couple of weeks and then come back for no apparent reason?).  I saw an Ear Nose & Throat doc who specializes in vestibular issues.

I'm sure you all can appreciate what it was like for a doctor to say to me "I know exactly what's wrong with you and can treat it right now."  I was stunned and elated.  If only all my other problems were so easy!   I have BPPV, Benign Paroxysmal Positional Vertigo.  It's only supposed to happen to old folks or people who've had head injuries, no idea why I have it, but it's caused by the crystals in your ears going into the wrong place and stimulating areas they shouldn't.

The treatment is really simple and the doc can teach you to do it at home.  The diagnosis is done by provoking the vertigo symptoms and looking at the eyes while experiencing the symptoms...they flick back and forth really quickly (this is called nystagmus).  My husband says it's freaky to see, but he can now confirm an episode just by looking at my eyes while I lean my head back and to the side.

Anyway, sorry to go on and on, but it's something to ask a specialist about....I saw a whole bunch of doctors before finally getting a diagnosis.  Feel free to ask me more about it.  I'm very curious if this is mast cell related, because no one has been able to explain why I have it.