the.com/rare diseases
individually rare, collectively they outnumber cancer and heart disease combined.
means a disease affecting a small fraction of the population, usually genetic, often undiagnosed for years, almost always underfunded.
from the term crystallized legally with the US Orphan Drug Act of 1983, which bribed pharma with tax breaks and exclusivity to bother making drugs nobody profitable enough would otherwise touch.
global countover 7,000 distinct rare diseases identified so far
people affectedroughly 300 million worldwide, not actually rare collectively
diagnosis odysseyaverage patient waits 4 to 8 years for diagnosis
origin storynamed orphan diseases because drugmakers abandoned them commercially
for instance
huntington's disease — affects about 1 in 10,000, fully genetic, no cure yet
progeria — roughly 400 known cases worldwide, causes rapid aging in children
cystic fibrosis — about 40,000 in the US, transformed by drug trikafta in 2019
ehlers-danlos syndrome — often misdiagnosed for a decade as anxiety or growing pains