Hi everyone I was diagnosed with CMT 16 years ago but it was only a few years ago that they discovered the faulty gene NEFL. I just wondered if there is anyone on here with the same who would like to share their stories?? look forward to hearing from you. I live in Cheshire, UK.
How were you diagnosed, brock? I am sure there is more to your story, too. What symptoms were you having? And how did you cope? What happened next in your life?
I was originally diagnosed with CMT when I was 12, after having nerve conduction tests. I am the first person in my family to show signs of CMT so it was one of the last things they tested for. I had an operation on both legs to lengthen my muscles so as a result I wear splints (AFO's) on both legs. My arms/hands and legs/feet are affected. I have a lot of wastage in my hands and struggle with fine motor control. I do need to use a wheelchair but I tire easily and trip often.
I am nearly 30, married with two young children, Riley 5 (has CMT) and India 1. She will be tested January 2015.
Looking forward to hearing from people,
Amy
It was approximately three years ago that they identified the NEFL gene fault, after several years of my blood being tested in Europe!! My son was then able to have the specific blood test without having to undergo any nerve conduction text (which I didn't want!) I was told I had CMT type 1A but after doing some research online I now think it could be 1F? Does anyone have anymore information?
I don't have answers, Amy, myself about the 1A vs. 1F, but I hope some more knowledgeable members wills be on by and by and can give you more information. I hope India's test is negative. It is good that Riley has an early diagnosis.
l do not what know what l have. My first cousin has this "I have CMT type GJB1 x chromosome, conexon 32 gene" which l understand to translate to CMT 1A.
Would love to know what type l have or what the odds are they are exactly the same ?
~Tami
I do have CMT 1f/2A! Me and my son have the NEFL mutation also!!! Would love to share more if you are interested!
brock1 said:
It was approximately three years ago that they identified the NEFL gene fault, after several years of my blood being tested in Europe!! My son was then able to have the specific blood test without having to undergo any nerve conduction text (which I didn’t want!) I was told I had CMT type 1A but after doing some research online I now think it could be 1F? Does anyone have anymore information?
l found out last summer that l have 1X. My neuropathy pain is the worst part of the CMT. l use 2 types of gabapentin and a compounded pain cream on my feet and legs. l often wear compression stockings, socks or Tubigrip for the pain too.
Tami