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hypotemusea (@hypotemusea)

Small Fiber Neuropathy and genetic testing?

Neuropathy | Last Active: Oct 16, 2020 | Replies (28)

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@jesfactsmon

Hi again @hypotemusea I did find that person. It was @mjpm2406 and you can find what they posted on their profile page describing some things about the genetic testing they had done, linked here:
https://connect.mayoclinic.org/member/180562aa00519da84045fb752d7c78c086a35d706c/
Not sure if that person is still paying attention to Mayo Connect at this point. But you can try to use their Mayo name @mjpm2406 in a post and perhaps he/she might contact you or at least post a reply. -Hank

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Replies to "Hi again @hypotemusea I did find that person. It was @mjpm2406 and you can find what..."

Thanks! This is really helpful! I searched for keywords like SCN9A and SCN10A but didn't find much in terms of people's experiences of undergoing genetic testing. My father (in his late 60s) has some mild neuropathy in his feet, and his mother had some diabetic neuropathy. I assumed that my father's mild neuropathy is an age-related thing but maybe it isn't? As far as we know no one in my family has had the same sort of neuropathy at a young age.

My geneticist seems willing to help — I had a previous appointment before where we discussed testing for Ehlers-Danlos, but I didn't know until recently that apparently 30% of people with SFN have the SCN9A genetic mutations (I couldn't find the research source, although it's mentioned on the websites of the genetic testing labs) and 5% with SCN10A… Even if the figure is not entirely accurate, 35% sounds significant enough for me to consider testing. And preliminary research has shown correlations between Ehlers-Danlos and SFN diagnoses too.

My doctors didn't try gabapentin. Lyrica was the first and (only?) nerve pain medication that I've tried. I'm seeing a new neurologist soon who specializes more in PN issues, so I'll definitely bring it up to him.