2/28/19 Miss A and I sporting our jeans for all those with rare genes on Rare Disease Day

Yesterday was Rare Disease Day, a day to prove there is power in numbers. Most days, Americans with rare diseases battle their bodies alongside the other 200,000 or less facing a similar diagnosis. But yesterday we got to join forces with 25-30 million Americans battling their own rare diseases plus their caregivers. In medical school they teach doctors that when they hear hoof beats to think of horses not zebras - but sometimes you or your kid happens to be the zebra, then what? According to the Global Genes organization only 5% of rare diseases have an FDA approved drug treatment and that’s assuming you can actually achieve an accurate diagnosis. Adelaide is the lucky recipient of MULTIPLE rare diseases with a larger overarching diagnosis, what I’ve referred to as her “true diagnosis”, still unknown. It is entirely within the realm of possibility that her disease is so rare that it has yet to be discovered and while this might make some scientists’ hearts palpitate with excitement, you’ll be (not so) shocked to learn that I find the thought less than thrilling. Epilepsy, in and of itself, is not rare: 1 in 26 will be diagnosed in their lifetimes. However, Infantile Spasms which we have battled on and off for two years, is certainly rare as is her Mast Cell Activation Syndrome (MCAS). I’ve spoken at length about Adelaide’s seizures before but realized that I haven’t fully addressed her MCAS and it has the potential to affect her life just as much as the seizures.

In an effort to educate without boring anyone I’m going to give a crazy basic explanation that is a summary from The Mastocytosis Society’s website. Ok, so mast cells are part of your immune system and are basically everywhere in your body but for our purposes imagine their effects in the GI tract, airways and skin. These tricky little suckers help protect all of our bodies from infection and also play a role in allergic reactions by releasing histamines. This is what happens when we get swelling from a bug bite, have seasonal allergies, or even true food allergies. What does this mean for people like Miss A? Essentially, Adelaide’s mast cells are over activated and always ready to fight. Seems simple enough, right? Figure out what she reacts to and just avoid those things…if only. For MONTHS Adelaide had an unknown red rash on her face that we had chalked up to irritation from excessive drool. We now know that it was a mast cell reaction to foods we were feeding her and smells in the air. The kicker? Adelaide tests negative to EVERYTHING on a standard allergy test because why would her body make it easy for us? By happenstance one day I gave Adelaide Benadryl because she appeared to be uncomfortable and I noticed her face seemed to clear up a bit. As a quick reminder her face had been red for MONTHS and with one dose of Benadryl it improved. Say what? I spoke to a dear friend who happens to have a mast cell disease and she suggested trying a small amount of Zyrtec, an anti-histamine. Within a week, Adelaide was more peaceful and the rash on her face was gone. I immediately began stalking the only Allergy & Immunology doc in Chicago that specializes in mast cell diseases and within 10 minutes of meeting us she confirmed my suspicions. The most unsettling piece is that we actually don’t know the full effects of this disease on Adelaide’s body because she can’t clearly communicate them to us. We only know for sure she is having a reaction by her face flushing. But chances are she has been feeling symptoms internally long before we are able to see them externally.

11/3/2018 Nearly clear after two weeks of anti-histamines

Another fun mast cell activation fact is that there is no fool proof diagnostic test so it can be very challenging to receive a diagnosis without finding the right specialist. As a result many people suffer for years before figuring it out and many probably never know. Without having a friend with this diagnosis I don’t know that I ever would have realized what was going on with Adelaide. Even within the allergy & immunology community mast cell disease are a mystery with very little understood: I actually had to go toe to toe in a hospital with an A&I doc who insisted that Adelaide did not have a mast cell disease because one test came back negative. I, the parent with no medical degree, had to educate this doctor on the variety of presentations and effects on the body with infographics created by a patient led organizations for this exact purpose! This is just one disease where the patient community is ahead of the medical community which is honestly not all that uncommon with rare diseases.

Interestingly, since becoming aware of MCAS, Adelaide’s epileptologist has referred four other patients to our allergy & immunologist for a MCAS diagnosis. Both seizures and mast cell reactions have to do with inflammation and I often wonder if, for Adelaide, one is causing the other. Adelaide’s MCAS is moderate, for others it is severely life altering and can even be fatal. Imagine not being able to leave your own home because your body cannot handle the smells in a restaurant or a passerby’s perfume. Or only being able to eat three total foods to prevent anaphylaxis. For diseases like MCAS, rare disease day is a critical opportunity to get the word out and raise much needed research dollars. If you feel so compelled you can learn more or donate at www.tmsforacure.org. We are beyond grateful that by using a few simple meds and IVIG treatments, with moderate side effects, we have been able to keep Adelaide’s mast cells in check with only a few flushing episodes per week. If only I could ask/convince/threaten her brain neurons to take a hint from her mast cells.