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Small Fiber Neuropathy and genetic testing?

Neuropathy | Last Active: Oct 17, 2021 | Replies (39)

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@mjpm2406

I have an appointment at Weil Cornell in Manhattan with a Medical Geneticist on October 26th so I'll mention LDN to her. I was recently diagnosed with Type 4 SMA so now my 4 adult children need to be tested to see if they are carriers of the SMN1 gene mutation. If any of them are their children will then have to be tested. I hope the SMN1 gene mutation ends with me. As far as I know, no one in my family has ever had SMA. It never ends. I have had CMT4B for many years as well as MDS/MPN-RS-T since late 2018. The MDS thing seems to be OK for now. On Hydoxy and my blood counts are within of near the normal range. The CMT thing runs in my family big time. It spares no one on my mother's side of the family. The SMA thing just recently surfaced following a genetic test which the geneticist ordered to see if she could identify a gene mutation that was causing my recent issues with PN. The geneticist wasn't expecting SMA because 95% of SMA patients are children. Further genetic testing is needed to rule out or identify any other neuromuscular gene mutations. Lucky me. Three extremely rare disorders. Almost like hitting lotto. Thanks for the suggestion for LDH.

Regards, Marty

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Replies to "I have an appointment at Weil Cornell in Manhattan with a Medical Geneticist on October 26th..."

@mjpm2406
Marty, you and Sunny @sunnyflower should pool your money and buy some lotto tickets together. She suffers with 3 extremely rare disorders as well (all different from yours I believe), in addition to several less rare conditions, including PN. I am sorry for the burdon all of this puts on you (and your family) and I hope you are able to find the strength to sustain you through the ordeals they present for you. I am glad you will consider LDN, it just might help your pain. Virtually no side effects, just have to obtain it and try it. Best, Hank