3 ms·

About the issue with it hasn't got a name: wouldn't be a human biologist be interested in researching this thing? Plus getting his or her name to name the disea

• whafro 12y ago
  I know more about the pediatric cases, but fwiw... There are TONS of 'conditions' that don't have a name (quotes only because that may not always be the right term). Sometimes it's not that simple – sometimes it's a matter of doctors trying to see if it's actually an unusual presentation of an existing condition. That's the usual focus for the first few years of dealing with a rare condition: the search for a diagnosis. You may have a dozen symptoms, and a given condition may overlap with eight of them, and with six of another, and with ten of another, but something stands in the way of getting a diagnosis. Eventually, you may have exhausted your options for diagnoses. None of the existing conditions fit what you have, for one reason or another. At that point, the best you can hope for is to find other people who match what you have. Get a small cohort together, and maybe the NIH will fund a grant through the Undiagnosed Diseases Program or something. It's long, uncertain, and frustrating. We're working on stuff to help folks like these (though kids, mostly) over at Kinsights, and it's heart-wrenching to hear about and watch this process unfold.