My diagnosis happened quite by accident. I was 31 years old and having a regular, annual examination by my family physician when he noticed some rash-like spots on my thighs. I had noticed them, but hadn’t thought anything of it. He referred me to a local Dermatologist who did a biopsy and diagnosed Cutaneous Mastocytosis. She suggested I familiarize myself with the disease, gave me an Epi-Pen and referred me to an Internist. The Internist did a bone marrow biopsy along with some other tests and suspected Systemic Mastocytosis.

This whirlwind of activity happened within a few short weeks. It was all very strange because I felt great and didn’t feel sick at all. However, once I started researching the disease I realized I had been experiencing many of the symptoms for quite a while. For instance, for years I struggled with GI tract issues and was eventually diagnosed with Irritable Bowel Syndrome (IBS). I struggled with infertility, which can also be associated with Mastocytosis. And then there was a series of symptoms like itchy skin, dizziness and food sensitivities that could never be explained. This diagnosis helped piece together a series of disparate symptoms that had been plaguing me since my teenage years.

Over the years, my symptoms gradually started to change. I became much more sensitive to certain foods and environmental triggers. The dizziness became more prominent and bone and joint pain became my biggest nemesis. My Internist put me on a regiment of daily anti-histamines, which really helped control the reactions. Although the symptoms had never really slowed me down, the medication helped me feel better than I had in years.

The only other significant part of my story is that in 2008 my husband and I decided we would like to expand our family. After many tests and doctor’s appointments, I was cleared to undergo In-vitro Fertilization (IVF). For the most part, the entire process was very routine (with only a few interesting ‘masto’ moments) and in 2009 we were blessed with a very healthy son. We continue to watch him very closely, but so far he has avoided inheriting this less than ideal trait of mine. During my pregnancy, I experienced no masto symptoms whatsoever. It was pure bliss. However, after about 6 months they came back with a vengeance. Trigger avoidance and anti-histamines got things back on track very quickly.

It’s been 12 years since my diagnosis. I have a full-time job, volunteer on the Board of Directors of MSC, play many organized sports, go to the gym on a regular basis and am able to keep up with my active little boy. I continue to take daily anti-histamines and am careful to avoid my triggers. I still have days where the bone pain overwhelms me and the brain fog frustrates me, but thankfully those are not daily occurrences. I feel very blessed to be as healthy as I am. I know this isn’t the case for everyone, but I hope my story gives you some encouragement that it is possible to live a ‘normal’ life even if you have mast cell disease.

 

Shawna Lechner-Rumpel
May 2017