Hi
We have just returned from our 2 day stay in Oxford. Has a ton more tests and saw professor. He does not agree with the other professor we saw and feels this is a sodium channel problem. He says we are at the mild end of the spectrum. The other professor I saw told me I had increased nerve fibres but this professor disagrees and told me they were in the normal range I think they were 11 in 2014. I declined another biopsy. They are saying there is a sodium channel blocker in clinical trials but about 5 yrs away. I go back if they find a mutation they have tested me for but said there is only a slim chance they will find it. He said we are only 6th family they have seen in last 4 years. It's very rare but I'm sure there are more but they just don't get as far. So need to wait 3 months now until I get my results. It's difficult as other profess or thinks autoimmune and we have both been offered ivig. Genetic professor thinks not and not to try ivig unless there is proven underlying autoimmune disease. All very confusing!

That does sound a bit confusing.

I hope that the additional testing leads to something which is helpful for you.

Thanks yes it is. One professor performs the biopsy and writes up results and compares to everyone elses. If anybody in uk has suspected sfn they would normally be seen by him. The other professors interest is sodium channels and genetic neuropathies. He does perform biopsies but not as many as the other. He said it was good to have more fibres! He also said 50% chance to pass on. He said people can have the mutation but doesn't always show symptoms.

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=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

How to get in touch please with you through private message,,i have similar case and want go on OXFORD,regards and thanks in advance

Hi sprako. I don't think you can receive and send a private messages when you've only just joined. I think it only works after a few posts. Can you tell us a bit about yourself and your story. Everyone is very helpful and friendly on here.Are you in UK? Loulou

Hey, Healthgirl, I want some of that 'magic of the universe'! Please.

Hugs, ElaineD

I wonder if IVIG , used on the wrong person, might be really dangerous for one's health? Why not to try it and anything else available (the list is actually very short)? Is it better to stay with the declining health for years waiting for the miracle? I read the story of the guy named Sven on this forum. He was told by the several so called "health professionals" that IVIG will not help him. He did it anyway and got better. I hope he is still okay. One should be proactive, imho. At the end it is your own health, your own life.