Another Rare Disease Day has come and gone and I can’t help wondering what the point is sometimes. You’ve probably never heard of Rare Disease Day. It’s kind of like Library Appreciation Month. Everyone’s in favor in principle but nobody really gives a shit. And then all the many many rare diseases seem to be competing for attention, like desperate Miss America contestants. Pick me! I have the cutest kid! Pick me! I have the saddest story!
Of course I see the point of Rare Disease Day. Not a lot of patients (less than 200,000) have each individual disease but together there are millions of people suffering from rare diseases and there’s little incentive for Big Pharmaceutical Companies to do research on drugs or gene therapy for small groups of sufferers, so bring strength in numbers. Also, there are links between rare diseases – Sarah’s De Novo Early Onset SPG4 is a rare disease that is a subset of another rare disease, Hereditary Spastic Paraplegia, which is a cousin of ALS and a couple of other neurodegenerative conditions. So research for one can potentially benefit the family of disorders.
So I don’t know exactly what I’m belly-aching about. I have this selfish “What about my kid?” feeling sometimes when I see other rare diseases played up that I know is pretty slimy, but there it is. I also feel like we went through a good stretch of years without a diagnosis where we were told that Sarah had cerebral palsy. CP is not a rare disease. It gets little attention and has no real lobby despite being one of the most expensive conditions. Diabetes is another non-rare disease. Kids and families go through so much with these conditions. it would be good if we could all just feel special.
The First Year Without Sarah 