← Return to DNA testing

Discussion

DNA testing

Neuropathy | Last Active: Oct 31, 2023 | Replies (12)

Comment receiving replies
@julbpat

I am fortunate to live in a city that has a research center, and a clinic. I was referred there (at my request) and went to an appointment. Prior to that I filled out a very lengthy medical questionnaire. At the appointment I met with a genetic counselor, and had blood drawn. She really felt like I would have CMT, based on my symptoms, and the fact that my sister has the same symptoms. However, nothing meaningful was found. She told me to keep waiting, as new genomes were always being discovered, and I would be contacted if something eventually showed up. Honestly, the whole topic is confusing, but I trust the answer.

Jump to this post


Replies to "I am fortunate to live in a city that has a research center, and a clinic...."

I have at least five generations on my mother’s side who were diagnosed with Hereditary Sensory Neuropathy (now CMT). It comes down on the x-chromosome so thanks mom, grandma, etc. my symptoms started at 60. My daughter started at 45 so my three daughters and I went for EMG/Needle EMG testing at Weill Cornell Hospital in Manhattan. The genetic team also performed a whole Exome sequencing test. Turns out I have chronic sensorimotor axonal polyneuropathy based on the EMG tests. My daughters do not have that disease (yet and I hope never). The genetics tests indicated that I have CMT2 and CMT4B. Oldest daughter was negative for CMT. Middle daughter was positive for CMT2. Youngest daughter positive for CMT2 and CMT4B. So now it’s seven generations. My genetic tests also identified me as a SMA Carrier and a GAN carrier. My daughters were negative for those diseases. I’ve had these polyneuropathy disorders for at least 17 years now and it’s challenging. I have no feeling below my knees and no sensation in my wrists and hands. I do have walking and balance issues. Lots of falls and several surgeries do to falls. But we learn to suck it up and deal with it. My wife and daughters have been very supportive so I’m doing OK.