Thanks

I have the HSAN2A variant. I have a later onset version, or the symptoms were very mild when I was young. It does seem to be progressive. Fatigue is my worse symptom. I've had the autonomic symptoms as well. I have episodes like relapsing remitting MS. According to my genetic counselor, there are many triggers that can determine onset, and intensity. Being these conditions are so rare, only the worst cases are typically diagnosed, while the rest of us with milder versions get diagnosed with every thing from being hypochondriacs, to having fiber myalgias. I believe this has lead to a lot of misconceptions about HSAN2A. In my search to figure out what was causing my symptoms, I found the Charcot Marie Tooth Association. On their website, I found out about genetic testing. My primary care Dr wouldn't order the testing. I couldn't even get in to see a Neurologist. The one I had seen years ago dumped me as a patient, even though he found nerve damage. It is tragic that most MDs have never heard of these conditions. I found out that I could go around the medical Dr, road blocks and get the testing done by Invitae genetic testing. Two variants showed up on the wink 1 gene. It was a huge relief to learn the cause of my symptoms. If the presenters would like to talk with me about what it is like to live with this rare condition, fell free to contact me through my channel.