Originally Posted by Goosiegoo

Hi all,
I have been to more specialists than I want to count. I had 2 skin biopsies but both were negative.
I participated in a study done by xenon pharmaceuticals for a rare condition called Erythromelalgia. Essentially, Erythromelalgia is a condition where a part of the body , usually feet, get hot and turn red and burn.
Anyway, the study showed that I don’t have the gene they were looking for, but I do have a deletion in the scn9a gene that encodes for the nav 1.7 sodium channel. Crazy complicated.
I guess my doctor at Mass General is now looking into that deletion as my possible cause of SFN and Erythromelalgia since that gene has been implicated in these conditions.
She believes SFN is a symptom of another issue. Erythromelalgia is a symptom
If SFM
She has never seen this deletion before, but is brining my case to the neuropathy conference in Italy.
I have no idea what the future holds for me.
My nerve fibers don’t appear to be damaged, at least not at last testing, but they mis-fire

Currently having a feeling of a horizontal line under my foot .
It could be related to plantar fasciitis but one never does know with this crazy condition,
I think I’m non length dependent as I started with hypersensitivity in the front of my thighs and my feet would burn.

Anyone like me?
I’m a very rare bird😂