The story of Nicolas (from France)
My name is Nicolas , I am 21 and I have learned I have CMT2A since I was 16.
I was born three weeks in advance. I was a baby without problems , qualified a bit lazy until the time of walking. I did it in a weird way, with big problems of balance, falling a lot. Sometimes my bones fractured, so my parents and doctors started worrying. Before that, a slow acquisition was well noted, but nothing seemed abnormal.
At the age of 2 and half, the neurological research began. Many tests were conducted, but the doctors could not make diagnosis. I had to wear orthopedic shoes all the day and heel splints at night, to prevent my feet from contracting them in a bad position.
Around the age of 8, a neuromuscular biopsy confirmed peripheral neuropathy and I gradually felt an increase of my exhaustion when I walked. I started using a manual wheelchair intermittently. I attended the primary school in a special class.
At age of 11, my slowness in education did not allow me to attend a “normal” school. I joined a special school for people with handicap. At 16 doctors discovered my scoliosis had been evolving in a very quickly way. I had to make a total posterior spinal fusion.
Then at 18 I started my internship in a school and I am still there, preparing my Bachelor of Administration Management .
I also had some problems with my eyes. In a few months, my view dropped considerably to the point that I had less than 1/10 in each eye. That was a big problem for my studies and for many other things too. However, against all expectations and disbelief of the doctors, my view has improved significantly making my life much easier.
Today I am an intern in my school and I hope to get my bachelor’s degree in 2 years. I am very frustrated because the doctors cannot do anything to treat this disease , but I feel less lonely since I know there are other people in the same condition. I hope we can join our forces to move things towards cure!