The story of Yohan (from France)

My name is Yohan, I was born in March 2000 and I suffer from CMT2A (HMSN2A caused by MFN2 gene mutation) diagnosed in April 2008.

I started walking when I was 9 months, but at the age of 18 months I didn’t want to walk anymore. When my parents asked me to, I said no because of the pain in my legs. When I was 2, they realized that my way of walking was really strange and “particular”. I fell too often. They consulted an orthopaedist who thought I had flat feet.

At 3, I asked my mom for help to put my shoes: I was no longer able to raise my toe. For that reason, they decided to consult a neurologist who told them I was suffering from peripheral neuropathy. After a blood test and an electromyogram, a diagnose was made: Charcot-Marie-Tooth.

So I started weekly physiotherapy sessions and my parents limited my walking because doctors told them that standing on my feet was too painful for me. I couldn’t climb the stairs without holding me and, if someone in the playground pushes against me, I fell for sure because of my very little balance.

At the age of 5, I was suggested to wear supports in carbon in my orthopaedic shoes: they help my feet to move forward and to stabilize myself upright.

At 7, I asked for a manual wheelchair to use during my walking with class or family. The disease got progressively worse and the muscle atrophy went from lower to upper limbs. I was 8.

In addition to the difficulties in walking, I also had problems in gripping with my hands. I could no longer hold a pen to write, so I started to use a computer. The school gave me an assistant teacher, for a few hours at the beginning; for all the time nowadays. I’m not able to write, but instead I can make origami very well. The Japanese art of folding paper is one of my passions: it allows me to raise my fingers without the need for strength.

At 12, I asked for an electric wheelchair to go to college: it is a choice I made alone. I do not want to spend all my energy in my travels (even small) because I walk hardly, awkwardly and slowly; and I cannot do it for more than 50 meters. I do not regret my choice, because since I made it, I have no cramps or pains in my legs and I feel less in danger sitting on a chair than standing in a group…

Currently at home, someone helps me in day by day activities (bathing, dressing, undressing , meals …) and at school, the assistant teacher writes on my behalf, handles and carries my books, notebooks, documents. I make a physiotherapy session per week. After a staying in a rehabilitation centre, I made an important discovery. I could ride a bike (making it suitable for me of course) and that’s wonderful, because now I can go walking with my family!

Read in French language