Zeimyth ΘΔAttended a community awareness event this afternoon for Rare Diseases. Conventional wisdom says that, if you hear hoofbeats, it's probably a horse. Applied to so-called "Rare Diseases", or diseases that only affect less than 1 in 2000 people, this approach results in signs and symptoms being improperly diagnosed or never diagnosed at all. Medicine is poorly equipped to help people with most rare diseases, resulting in difficulty, pain, and premature death for many people with these misunderstood conditions. In other words, these hoofbeats weren't being made by horses, they were being made by zebras.
This was my first experience really encountering this concept. At first I was skeptical about putting "Rare Disease" as an umbrella over so many conditions, but I have a better appreciation for it after today. It's very much a "strength in numbers" type of situation. None of these diseases are enough to create much noise by themselves, but together they can have a shared voice that can actually be heard.
It was also while at this event that I realized that my third child, who was stillborn and diagnosed posthumously with trisomy 13, was one such example of someone with a Rare Disease. That helped things hit a bit closer to home as well. Despite these diseases being so rare, there are also many types, with as many as 10% of people having one. That's sobering to think about.
