The standard complement was preformed each time and was normal.

Joint pain is consuming, my thumb now has bone on bone OA. In an effort for pain relief I recently visited a physical therapist a few times. They can't help with bone on bone, but his initial evaluation did show peripheral neuropathy in both arms.

My mother has RA. My son is insanely hypermoblie. My nephew was clinical diagnosed with Charcot-Marie-Tooth at around 13, he is now 23 and becoming symptomatic. My father is totally disabled with peripheral neuropathy, with a presumptive diagnosis of CMT. I fall frequently, as do my father and sister. My sister has an aneurism near her brain stem which is being watched, but treatment avoided because at this point it is too dangerous to treat unless it grows.

I have significant hypermobility in many joints and was tested for vEDS, which was negative. No other tests along the re EDS were preformed.

While the first tests were conducted I was losing weight at an alarming rate, desperately fatigued with chronic diarrhea. When it became clear there was a medical solution wasn't on the horizon, I explored Alternative and Complementary 101. The first thing was to attempt to restore lost nutrients in transdermally wherever possible. Then I added food based vitamins gradually, and felt some improvement. And began to regain the weight.

Just when I thought there was a light at the end of the tunnel, it all started again. The PCP did another ANA, it was high, the complements normal. Diagnosis: I'm malingering and obsessed (unspoken but understood).

What I don't understand is that physicians uniformly ignore positive results, while using negative results as a basis for diagnosis. Objective diagnostics are insignificant.

Welcome remotetime.

Hello remotetime,

welcome to the NeuroTalk Support Groups.

I'll post a couple of forums to start with...

Peripheral Neuropathy Forum

Arthritis Forum

There's also a forum search feature here and you can just type in a keyword and find other posts on the topic. [You need to have a word longer than 4 letters I think, so instead of typing CMT for example, it's best to search Charcot.]
http://neurotalk.psychcentral.com/search.php

I'm very sorry you're in so much pain and I hope you get some help and direction soon.

And I've looked at quite a bit already. My story is sadly familiar, but like everyone, I still hope. Not even hope for a cure, maybe just compassion as a substitute for frustration from the medical community.

Today, I thought maybe my situation would be familiar to someone who would give me a hint. But even if there was an answer, there wouldn't be much I could do with it.

Thanks for letting me rant.

From your post it sounds like it could be CMT along with many other things. There is DNA testing for CMT but very expensive. There are over 70 types of CMT that they can test for so far. However, with what you describe in your father and nephew it could be one of the more prevalant types if it is CMT. Symptoms can vary greatly even within the same family.

I hope you find the answer.

There is a SNP that is a hint, but not an answer because they don't test for enough of CMT to be able to say with certainty. Anyway, there isn't a doctor around me who would look at seriously. They think 23 was a joke, it might have been for all I know.
Gene: PMP22
SNP: rs28936682
Genotype: GG

remotetime

Hello and welcome, happy to see you have come to be with us, it a great place to be. Have fun looking into the different forums. Our shoulders are here for support in many ways.

Please keep us up to date on your condition. Again welcome, looking forward to seeing you around. My thoughts and prayers are with you.

Darlene

Athena Diagnostics is one of the best places to have DNA blood testing done. They pretty much can rule it in or out for all the types that they can test for. It is very expensive if they have to test for a lot of types. You could call Athena Diagnostics and get some information.

http://www.athenadiagnostics.com/content/contact/

Hope you find an answer.

But I do wonder whether there is an advantage in knowing to a certainty. Especially, since vEDS is basically ruled out, and CMT has no real treatment.

Maybe if many family members were demonstrated to have it we could get into some research study. I'm already taking the vitamins.

Hi,

Vitamins are not a help. There is no magic bullet for CMT.

The only advantage is knowing what you have for certain. You also can deal with the symptoms as they come along. Yes, there is no cure/treatment for CMT at the present time. However, lots of research is already being done. It has been done and is going on. I doubt in my lifetime there will be any cure/treatment for CMT.

Each child has a 50/50% chance of getting CMT. As I said, symptoms can vary greatly even within the same family.