Marathon Patient Partner: Gail/Mastocytosis

     Hi, my name is Gail and I’m very honored to have the folks from Genzyme ask me to be a patient partner for their Boston Marathon run.  They asked me to share my story, so here it is:  I am 55 yrs old, giddily married to Stephen for 31 years, mother of 2 wonderful grown children (that live toooo far away lol), and I have the rare disease of Systemic Mastocytosis.  After about 7 yrs and many doctors I was finally diagnosed in 2004, when I had progressed from years of severe itching and increasing numbers of red spots (UP) all over, to all-out anaphylactic attacks 2 or 3 times per month…I was in the ER every other week and they didn’t know what to do, they had never seen anything like this before.  It was a confusing and very scarey time in my life…My kids were just teenagers and I didn’t know if I was going to be around for them… Thank goodness for my dermatologist, Dr. Goos,  who finally biopsied one of the red spots and sent me to Brigham&Women’s Hospital to see one of the very few Mastocytosis specialists in the world, Dr. Mariana Castells.  My new lifeline!
Mastocytosis presents differently in each patient – one of the reasons it’s difficult to diagnose and treat.  The most challenging part of this disease for me is of course the frightening anaphylaxis, which could kill me… but now that is just about under control with mast cell stabilizing medications it’s really the daily brain fogginess that gets in my way – I have difficulty doing my job, unreliable memory, disorganised, making mistakes, embarrassingly losing my words mid-sentence… in addition there are what I call  “ghosting days” when depressing extreme fatigue/disconnectness lands me on the couch unable to move, separating me from family, job and activities… and the all-over-bone-pain days when I just want to cry, unzip my skin and run away… the intestinal discomfort after meals… the unknown environmental odors/perfumes that could cause immediate collapse… exercise/heat/cold that leaves me rashy & sick… the inability to sleep… the never knowing when it’s all going to hit… the not being able to get the correct medications because they aren’t manufactured in the USA – so not covered by insurance which makes them expensive or not even an option… it’s depressing and disappointing… it makes it frustrating not to be all I want to be for my family, to be unable to do things I need to do or dream of doing.
There needs to be more research, better targeted medications, and more education for physicians and health care workers.  The toll that worry takes on my family and the hits to my own self esteem are immeasurable. Even with all this I am fortunate to be one of the more “healthy ones” with Masto, just now I have usually more good days than bad, but I hate being limited – EVER – so I want to use all my energetic days to help fix this disease… I want to grow… I want to know… and I will fight for us all to feel better 🙂

It is very gratifying to know that there actually ARE special people “out there” researching and working on meds and cures, and that they care.  The folks at Genzyme and NORD have been incredibly compassionate with their interest and support.  “Connectedness” is their theme this year, and if there were more of this in the world we would All benefit.  Being included in this Marathon adventure has felt like Hope in action.  Thank you so very very much for all you do.  :)       … Goooooo Andrew!!  Good luck on Marathon Day!