Hi Healthgirl,

Thanks for your reply.

I wrote to a professor of neurology who deals in genetic neuropathies. He advised they are in the early stages of their research. He did say that if my sister's skin biopsy came back as positive then he would review us but he said he can't guarantee it would help with our clinical care.

I was also wondering, could we both have some sort of genetic auto-immune type of issue. I mean if it was then could the ivig still help? The neuro insisted that if it was genetic IVIG wouldn't help.

Please also keep us up to date with your investigation . I hope it is all going well so far.

Thanks

There is Ehlers Danlos Syndrome that runs in families and can go undetected or misdiagnosed. This can cause neurological and connective tissue problems and very commonly dysautonomia. I'm pretty sure I have it...or at least I have every single symptom, but autoimmune diseases can look similar. I'm betting they will check me for this when I go to Columbia.

Also there are metabolic disorders that run in families. I'm finding that people go years with out a proper diagnosis until they finally get a geneticist. My one neurologist didn't see the point since I already have a "diagnosis", but I think it's important to find a cause so you know what to treat and not to treat and to stop guessing.

Thank you Health Girl, i am fuming today as i have just read my sister's letter from her Neurologist. It says " As her nerve conduction test is normal, this is consistent with Small Fiber Neuropathy" She would like the biopsy to be absolutely certain. However my diagnosis is Small Fiber Neuropathy.

My sister has not had burning as what we know. She says she has hot feelings on her skin which are not painful, it also goes away for months and does not bother her in the slightest. I still feel really cross that her neuro does not think a biopsy in necessary as there would be nothing they could do if it was genetic. I would have thought it would be very important considering they have agreed an IVIG trial for myself on the NHS. Obviously the IVIG won't work if its genetic, so surely they would need to get a firm diagnosis before i went ahead with expensive treatment and the possibility of having a bad reaction to it!