1:1280 ANA twice over two years
 

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. :Wave-Hello:

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.

This place is a great source
 

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.

As far as I can tell from 23andme
 

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

Nice to meet you!!
 

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.

Thanks, I'll look into it.
 

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.

CMT -

I saved something in my Notepad that I read the other day.

This is from our Health News Headlines in December

http://neurotalk.psychcentral.com/thread213689.html
Pharnext drug shows promise in neurological disease with no treatment


http://news.yahoo.com/pharnext-drug-...010044346.html

Actually there are about 2,500 people world wide with CMT. 150,000 in the U.S. alone. Treatment/cure has a long road ahead. Many, many types and subtypes of it. It's considered an orphan disease so not much interest for companies to make a drug where so few, so to speak, would use it. And it would take a long, long time to do it.

Thanks, that's interesting. My nephew's
 

neurologist, who gave him a clinical CMT diagnosis told my nephew and his family that vitamin C could slow progression. That was some time ago, but I started taking it anyway. It's now known not to help? I didn't check newer research.

Assuming that is my problem.

They have done numerous trials and it does not help. These trials are for people who have CMT1A. Here is just one trial. There are many more.

http://www.muscular-dystrophy.org/re...-tooth_disease

Hi remotetime

The very technical information in this link might help if you decide to approach Athena Diagnostics for genetic testing concerning Charcot-Marie-Tooth disease.

http://ghr.nlm.nih.gov/condition/cha...-tooth-disease

A good site. However, DNA blood testing is expensive. And if they have to test for all of the types that they can now test for it really is expensive. And even if DNA testing does not come up with a type, it could mean that another type comes into play.

remotetime should call them and see how they might be able to help.

http://www.athenadiagnostics.com/content/index.jsp