Today is Rare Disease Day. Check out ways you can get involved here.
Having rare diseases is an enormous part of my experience living as a patient, if not the most defining characteristic. Read a more detailed and well-argued version of my thoughts here, in my official Rare Disease Day post from a couple of years ago.
(Because, you know, were I to attempt something like that today, with work and symptoms and pediatric doctor appointments and awful rainy weather and physical therapy, I’d blink and miss posting today altogether. And that would be a huge advocacy fail.)
I will say, though, that the rare disease phenomenon was never more omnipresent than during my pregnancy and delivery. A high-risk, medically intensive pregnancy is one thing. A high-risk, medically intensive pregnancy with rare diseases? That’s a whole other kettle of fish. Limited data, limited testing available, limited understanding and awareness of the disease(s) on the part of health care professionals, and very limited experience working with pregnant patients like me is a natural byproduct of living with rare diseases. Like so many patients, I’ve found it frustrating when practitioners don’t know what I have, can’t pronounce it right, and lump me in with patients whose diagnoses are not the same.
But when that happens and it’s my baby’s health at stake, too? Much harder.
When you live with disease so few people have, you don’t have the same sense of community. You might not ever know someone with your condition in person, and you will likely never see a disease-specific walk-a-thon or awareness bracelet. Sometimes, I feel like the real community we have is the umbrella population of rare disease patients, where we are united by what makes us different.
Today is a day for all of us to show solidarity, to advocate for the research and awareness so crucial to our health.