Charly Jacobs who is seven years old is diagnosed with the EIF2AK2 gene. This is a genetic mutation, an assembly error! There are only 4 cases in the world, and Charly is one of them. Charly is slowly losing his abilities. He is currently in a wheelchair and can’t eat by himself anymore. To help Charly continuing with his montly hospital research we need your help! Buy your cap and help Charly to keep on smiling!
My name is Charly, Charly Jacobs. I'm six and a half and I'm getting ready to start grade 1, I'm made big!
I am tall, but I am different. It was at the age of three that my parents noticed differences in my development; I began to have difficulty walking and also to express myself. It's because of dystonia, a disease that has bothered me for three years. So much so that in June 2018, I stopped walking, it was just much too difficult!
Since then, a whole team has been working around me to find the cause of this severe, progressive and generalized dystonia. My physical condition is very fluctuating, but slowly, I lose my abilities; I am not able to push myself alone in my wheelchair, I need help to do all daily tasks, I do not eat alone anymore.
Just recently, the neurologist-geneticist team finally found the cause; it's a gene, EIF2AK2, that's responsible for my condition. This is a genetic mutation, an assembly error! We are only 4 cases in the world to carry this gene.
The medical team continues to work hard to find the best treatment for this rare disease. I have to go every month to the hospital, the Chu de Quebec or the Chu de Ste-Justine, in addition to my weekly therapies in ergo-physio-ortho ... Even if there are more difficult days than others, I keep smiling!
Caps will be sent from week 51