I have a good and old friend who has a very rare genetic disorder that has recently been affecting her after years of being fairly inert.
After receiving really good support in her childhood in NYC, she's been surprised to find how poor the support / care has been in the smaller US city she lives in now.
I'm desperate to help and wondered if anyone on the fediverse has advice about how to, essentially, find medical researchers who might be interested in her condition. 1/?
With each new appointment, she comments on the incuriosity of the doctors who she's seeing. She doesn't understand why people don't seem that interested in helping. And I just know there must be doctors or researchers out there who would be very curious to work with her.
Any advice fedi?
2/?
I wondered if maybe a good place to start would be to find academic papers written about her condition and try to contact the authors? Even if they live in another country, perhaps they might know someone nearer-by who could help?
Or would be it be insane to e-mail / bother these researchers? I feel like it might be for more common conditions but my friend's condition has only around 100 documented cases worldwide I think.
3/3
Jesse Spielman