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EMG - "MILD AXONAL NEUROPATHY"

Autoimmune Diseases | Last Active: Aug 1 12:45pm | Replies (16)

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I have a family history of CMT (formally known as Hereditary Sensory Neuropathy). My four children and I went to Weill Cornell Hospital for a Whole Exome Test in 2018 that not only looks for gene mutations but they compared my results against my four children in hopes of finding common gene mutations that we all share. We also all underwent EMGs. Turns out I was diagnosed with chronic and severe Sensorimotor Axonal Polyneuropathy, CMT2 and CMT4B. My children were all positive for CMT so this neurological disorder is now in the 8th generation in our family. CMT comes down on the X chromosome so thanks to all the women on my mothers side of our family. It turns out I’m also a SMA and GAN carrier. Fortunately, my children did not inherit the SMA or GAN mutations so those gene mutations will die with me. My children do not have Sensorimotor Axonsonal PN so that's a blessing. I basically have no sensation below my hips do walking is difficult and my balance is awful. What can I say, life is challenging? I have a great support system. My wife and my three daughters are very supportive. My son - not so much. I also have CML which the Veterans Administration linked to Agent Orange and the contaminated water at Camp LeJeune, NC. The VA does provide Uber rides for me to go to all my medical appointments because I cannot drive due to the PN. I'm not on any drugs for the PN but I'm on a strict chemo regimen for Leukemia. I also have to have monthly labs and infusions at Sloan Cancer Center. Like I mentioned earlier - life is challenging. But as Dorie the fish said, “we swim because that's what we do.”

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Replies to "I have a family history of CMT (formally known as Hereditary Sensory Neuropathy). My four children..."

First - I thank you for your service, but I am so sorry for everything you've gone through as a result of it. Since you mentioned Sloan and Weill Cornell - can I assume you're either in New York, or somewhere within the Tri-State area? My rheumatologist was at HSS, then at Weill Cornell, and now is in private practice with hospital privileges at New York Presbyterian. I get my infusions downtown at the William St. New York Presbyterian location (that's been a bit of a challenge as I'm on Long Island!)

Thank you for sharing the information on Sensorimotor Axonal Polyneuropathy and CMT. So far, my doctors don't seem to believe the cause to be neurological, but I have an upcoming appt on 8/6 and will ask more questions. Wishing you the very best with your treatment at Sloan. And thank you for the great quote from one of my favorite movies!!!!