Update - Visit to Professor of SFN with Sister
 

Hi there,

I haven't posted for a while but thought i would update you. My sister has been having symptoms of SFN for the past couple of years and had a biopsy yesterday with the Professor in London who did mine, i went along with her for some support and answers. I have been very worried about a genetic disorder and my sister was told by her neurologist that there was no point in having the biopsy as if she has sfn , it will be genetic so there is nothing they can do to treat it. I told her to insist on having the biopsy which she did.

I told the professor what her neurologist said and he informed me this wasn't true at all. He also pointed out that because my biopsy showed increased nerve fibers , this was not in keeping with a sodium channel dysfunction ( the genetic part of SFN) and if it was would normally show a decreased nerve fiber on the biopsy. The professor thinks that if the biopsy is positive and shows a similar result as mine then he feels this could be a virus or something that has been and gone and left these symptoms which become more obvious when stressed or ill. He also pointed out that autoimmune conditions are genetic and run in families which can be treated. He said that alot of people who have inflammatory neuropathies can get better with treatment and sometimes they go away on their own.

I felt quite positive after this appointment and was pleased that he could give me some answers in respect of the genetic aspect. I could not understand it as my Neuro had run scn9a & 10 genetic tests which all came back negative. I feel very annoyed with the neurologist who told my sister this was a genetic problem and worried me to death.

It just goes to show how important it is to get a proper diagnosis as some neurologists just don't seem to have a clue about SFN!

Do I understand correctly that if the Scn9 & 10 is negative, there is treatment. And usually if negative there is NO decrease in nerve fibers. So if there is a decrease in nerve fibers it is possible that the scn9 & 10 could be positive but if so there is no treatment. Is that right? My brain fog is bad so I apologize.

HI Summerfun - i am certainly no expert but as far as i am aware the genetic neuropathies are very rare. I've had the scn9a and 10 gene tested which came back negative. The professor i saw said that my skin biopsy was not in keeping with a genetic neuropathy as the biopsy would show a die back of nerve fibers - but if you have a die back of nerves doesn't mean that you have a genetic neuropathy - there are lots of causes. He just pointed out to me that my biopsy was in keeping with an inflammatory neuropathy. He also pointed out that with an inflammatory neuropathy it was strange that none of the markers for inflammation were raised in my blood tests as they normally would be with this type of presentation. At the moment there is a lot of stuff on the internet about SCN9A & 10 sodium channel dysfunction and some blockers are in clinical trials - so even though there is no treatment at the moment , hopefully in the future there will be.

Just wanted to note: I have an autoimmune disease (RA) with a positive ANA - I also have only very slightly elevated inflammatory markers AND a progressive sensory polyneuropathy that has taken over my entire body, assumed to be inflammatory. I actually think my inflammatory markers are elevated only with my RA because it has gone down significantly as my medication has kicked in and my joint pain is greatly decreased. So, that really does go to show that you don't really need the inflammatory markers to have an inflammatory neuropathy.

thanks for your post, great information