Yeah, I think your best option is to identify the protein containing the mutation. Then contact experts studying that protein. Most researchers love to hear from outsiders
If it was me, I wouldn’t be willing to go into in-depths discussions with patients since that could lead to unintended consequences. Like patient self-medicating based on what I say, even if I didn’t intend to give any advice.
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Matt Might chronicled experiences with his son's rare genetic disease. Perhaps that will give you some ideas.
Hunting down my son's killer: https://matt.might.net/articles/my-sons-killer/
You may also want to email him. Anecdotally, I believe the rare disease research community is small and willing to listen to outliers.
University department page: https://www.uab.edu/medicine/pmi/matt-might
(Edit: fixed urls, typos, grouping.)
There was another really good one on HN a while back about a husband doing research to try to save his wife from FFI.
This was it and seems relevant: http://www.cureffi.org/2019/04/29/financial-modeling-in-rare...
Also this woman who identified her own disease, her father and a champion athlete https://www.propublica.org/article/muscular-dystrophy-patien...
Seriously, 43 points 6 years ago??? Resubmit this already.
That was an excellent read.
Yeah, I think your best option is to identify the protein containing the mutation. Then contact experts studying that protein. Most researchers love to hear from outsiders
If it was me, I wouldn’t be willing to go into in-depths discussions with patients since that could lead to unintended consequences. Like patient self-medicating based on what I say, even if I didn’t intend to give any advice.