5 ms·
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.
by adityaathalye 5y ago
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/ 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 https://www.uab.edu/medicine/pmi/matt-might
(Edit: fixed urls, typos, grouping.)
- jostmey 5y agoYeah, 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
- f6v 5y agoIf 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.
- gonehome 5y agoThere 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-disease/ http://www.cureffi.org/2019/04/29/financial-modeling-in-rare...
- lazyasciiart 5y agoAlso this woman who identified her own disease, her father and a champion athlete https://www.propublica.org/article/muscular-dystrophy-patient-olympic-medalist-same-genetic-mutation https://www.propublica.org/article/muscular-dystrophy-patien...