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CMT (Charcot-Marie-Tooth Disease) - Genetic Testing
CMT affects both sensory and motor nerves. Damage to sensory nerves can lead to neuropathic pain, characterized by tingling, burning sensations, or sharp, shooting pain.
I choose to under go genetic testing a few weeks ago to see if I could find a reason for my neuropathy and hopefully find what’s been causing my neuropathy, well I have and I wanted to let everyone know my diagnosis for all my pain and misery.
CMT is one of the most common inherited neurological diseases, yet it is considered rare and often misunderstood.
I think it would benefit anyone with nerve problems to be tested for this disease, so you can stop looking for that special cure and start managing your health.
Physical therapy, proper shoes to help your balance and assistive devices such as canes.
I hope that some day they will have a cure for this awful disease.
Good Luck to all.
Benjamin Phillips
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Who ordered your genetic test and how long have you had your symptoms? Did either parent have it? Where is your pain? What is your plan for future treatment?
Hello @bgator, You will notice that we modified your discussion title to provide a little more information on the discussion and help members find it easier. Thanks for sharing your experience and starting this discussion.
It started along time ago just a little numbness in my toes and then my fingers, maybe around 2018. I am 79 years old. I don’t ever remember my parents mentioning it or dealing with these problems. Don’t mean they didn’t have it, they were tough people back then, never complained about anything.
Right now I am having a lot of pain and numbness going up to my knees and from my fingers to my elbows.
The pain is sickening and I take Hydrocodone (3 /day) and Gabapentin (1200 mg/day).
This medicine only gives me some relief, not for very long.
I paid for the genetic testing myself.
I guess the future is to try and deal with it the best I can. Good shoes for balance, and be very careful while walking around. If I could get rid of this sick feeling I have, I believe I can handle the numbness somewhat.
I hope this helps.
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5 ReactionsMy maternal Grandfather had it really bad. My mother had it, but mild symptoms....so she had my brother and I tested at a young age. Turns out my Brother has it...and it's pretty bad....disabled him at age 42. I don't have any symptoms at all....however, I now have PN and it has me wondering if it's related to CMT. I guess I need to have another discussion with my Doctor.
thank you for posting this! Best wishes to you.
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1 Reaction@bgator , thanks for sharing. I sure do hope you can get some relief. That’s a lot to handle every day. 🧸
Benjamin, Good luck to you and anyone else that has this malady. I too have it. Technically it is Type 2 in which the disease has more numbness (knees down and forearm to hands) and a little less pain than Type 1. Mine is also Late Onset, I am 74 and had no symptoms until about 50. It skipped my mom from my grandfather who walked with a cane and had weak legs which he described as ants crawling. No one knew what it was of course. Thought he had bad back.
I now wear AFO’s (leg braces). Before all of this I was playing basketball and softball.
I take Pregabalin (Generic of Lyrica) which gives me relief and less brain fog. Ask your doctor about that.
Shoes are very hard to find and are crucial. Please exercise as much as possible. I walk with trekking poles, swim, stationary bike, YMCA, etc. One word of caution, I have had 3 genetic tests without identifying the gene culprit, so even if none shows up yet, a person still might have CMT.
One final note: As many people have CMT as have MS! The good people at HNF ( Hereditary Neuropathy Foundation) are getting the word out and helping with many aspects of our disease. Blessings to you Benjamin. Bob Vollmann
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