http://www.rarediseaseday.org/stories/164

Thanks for posting this David. What's really interesting with SFN is how often the symptoms are very different with each person. IE; some of us experience more pain than others or weakness, etc. And the progression rate varies as well.

Cliffman

You're welcome. I just happened to come across it. Yes, indeed, and I think parts of that is that it's just a symptom rather than a disease, though even there many diseases can present differently. It's also indicative of how complex our body and its nervous system are.

She's one luck woman with all those experts working on her case. I wish I had that kind of support.

I don't know if I call not being able to walk at 30 lucky! I do feel like she has more than small fiber neuropathy, no? It sounds like she has an undiagnosed and serious neuromuscular disorder.

--there would seem to be some larger autoimmune process going on, of which the neuropathy is one manifestation.

And, considering how many autoimmune conditions can have neuropathy as an effect, from lupus to celiac to specific autoantibodies to components of peripheral nerve to paraneoplastic syndromes--I'm not sure how accurate designating this a "rare disease" actually is, especially as one in twenty people will get neuropathy over a lifetime and the thought is that many "idiopathic" neuropathies result from as yet undiscovered autoimmune mechanisms, probably involving molecular mimicry from pathogens.

RunWriteMomHeal, I hope that's a joke? I was clearly saying she was lucky to have such support, and she clearly is, not that she has SFN and/or can't walk at 30. That would be absurd. Many of us with SFN, myself included, are not experts, have little or no financial and other support and have to go at it alone, we certainly don't have expert scientists and physicians researching our condition for us.

I believe the designation of rare disease was for (pure) small fiber neuropathy not neuropathy in general or peripheral neuropathy as a whole, which is indeed quite common. In all the literature I've read so far SFN is still quite rare compared to other neuropathies and to many other diseases. Of course, there could be an issue with under diagnosis, misdiagnosis and the like, and I'm willing to say that has something to do with it. When I was diagnosed, my GP, close to retirement, said she had seen two such cases in her career, whereas she sees multiple small and large fiber PN for diabetes and the like on a weekly basis, certainly monthly basis. Of course, then she worried that she has missed some cases as have the neurologists to whom she referred patients. This happened with the neurologist to whom she sent me. And then another one after him, until the third one caught it.

I think there is definitely more going on here, a broader autoimmune issue/disorder with SFN as one symptom as she puts it. I like her spirit in all this and her support team.

Edit/Addition: In fact, the designation is even more limited to "autoimmune small fiber neuropathy"

Sorry, I didn't mean to imply that you meant that. I was just observing that there isn't anything lucky about having her condition, especially since all that support isn't getting her too much, since as we know there are no treatments. She doesn't even seem to have a diagnosis, even with all the research she's done. That's one of the most frustrating things I think for many of us with this condition who are used to being able to "solve" our way out of most things!

it does seems she has an unknown and undiagnosed autoimmune, autoimmune sfn, is usually a symptom of an autoimmune disease. I have also read on ion channels behind the culprit behind PN, its very complex, as there more than one kind that could cause it, and even more mysterious, is why it always attack people in thier 20s-30s, or more.

Yes, she's not lucky to have such a condition, no one is. It's a miserable thing to get, perhaps especially so early in life, though really at any age. Suffering is suffering. And yes, it is frustrating not to know the cause and to not have a straight forward course of treatment. But at the same time it's important to appreciate what we do have, to set the goods, the privileges, etc., against the bad, the misfortunes, otherwise what's the point? As I see it, it's important not to be completely defined by or reduce to our illness, but to fight the good fight and to focus or keep an eye on the goods that we do have, and in her case her life is not pure misery as she makes clear, and this is obviously important to her. It's important for all sorts of reasons, however disheartening and debilitating this disorder can be. At least that's how I see it.

I also appreciated her comments on our "hidden disability." I am so tired of people telling me I don't look sick.