The story of Marie-Hélène (from France)

My name is Marie -Hélène, I ‘m 27 and I live near Strasbourg.

Around the age of two, my parents found a problem with my feet.When my mom put me shoes on, I was not able to raise them and run like other kids of my age did. I started walking at ten months, but by the age of 4 I wasn’t able to do that anymore: I fell a lot. I had my biopsy of nerve and muscle performed and so a diagnosis of a neuromuscular disease was made. Nerve biopsy was oriented towards hypertrophic neuropathy with many onion bulbs. The EMG was compatible with axonal CMT types. I started weekly physiotherapy sessions at that age. Very quickly I could not climb stairs without hanging on. The many physiotherapists I met have always been very nice and took care of myself.

The disease progressively got worse and atrophy spread to higher limbs at age of 8. I would have liked playing electronic keyboard but I wasn’t able, because my hands did not respond to my brain. When I get up from a chair, I have to hang on, and I am slow at writing and typing on the computer as well. By the age of 9 years, doctors asked me to carry two flexible and dynamic trademarks. Since then, I have always gone out with them, because I fall less and I can walk longer. I put the trademarks into my sneakers with high heels expanded . Given the atrophy of my hands, now I have some difficulties to hang the elastic, but for this problem I have consulted several times the occupational therapist.

By the age of 17, the weakness of my upper limbs, associated with the complete atrophy of the muscle of my hands, increased. It was the beginning of the pain, cramps and paralysis of my hands. I had pain in the wrists and arms too. I had several injections. Then the doctor made for me a night splint to rest my hands. The purpose was to put my hands in absolute rest during the night. At 19, I had my driver’s license on a car adapted to my disability . It was a new freedom for me. To attend the course license, I rented an accessible studio next to my school. A member of my family came every day to visit me. I went instead to my parents just at weekends.

In 2009 , a molecular diagnostic revealed the secret of my illness , I was heterozygous for two mutations in Mitofusin 2, so it was a CMT2A ( MFN2 ) autosomal recessive. Having reached my degree, I worked for 5 years. After two years, I had to reduce my work by 20%, because I was too tired and had too much pain in my hands. I completely stop working nowadays because of the pain in my upper limbs. I have a great weakness in every four limbs and cannot kneel. No surgery is possible.

Now I live at my own pace , the pain is still present especially if it’s wet and cold . I use a lot of technical assistance to ease my movements in everyday life. I have my boyfriend’s help for what I cannot do.

Read in French language