[QUOTE=Healthgirl;1242204]So far, your basically where we're at.

Genetics says we have a genetic (heritable) disorder that seems to have autoimmune involvement

Neurologist says we have a genetic disorder with definite autoimmunity attacking the nerves and will treat with the basic (gabapentin type nerve drugs), and defer to rheumatologist to treat the autoimmunity.



Rheumatoligst says we have genetic disorder with possible autoimmune involvement, but since it doesn't show inflammation with ESR and CRP, she is afraid to treat me with the fear of making me worse due to the underlying genetic thing. I'm going for a follow up with her and I think she is pretty smart, so I'll post after the visit with an update.

It took 4 years to get this far and this was all pretty much obvious from the start. Hopefully I'll be cured by the magic of the universe before they figure it out at this rate.[/QUOTE

The Professor of neurology who did the biopsy thinks I have neuro inflammation as per the increased fibers. Hlowever the Professor of neurology who specialises in sodium channel mutations thinks it is a sodium channel mutation and doesnt think I have increased fibres. He disagrees and thinks are in the normal range.. The rheumatologist said no underlying autoimmune. But first professor thinks autoimmune even though my test are all normal. It was confusion over what is classed as increased nerve fibres and what is classed as normal range. I have ivig on hold but second professor said not to try unless an indication of autoimmune disease is present.

I hope you get some answers. Please keep us updated. I will have to wait 3 months for results of genetic testing.

Did they think you have EDS? I