Léon turned two on October 15th. He celebrated his birthday with his family in Penvénan in the Côtes-d’Armor. A birthday with a taste of victory for this little boy and his parents. Because he suffers from a serious genetic disease: spinal muscular atrophy. And two years is an age that he could not have reached without the injection of a drug discovered thanks to research related to the Telethon.
Laurane Mirzin will run on Saturday 3 December in Plouider, Finistère, for the Telethon. Léon’s mother didn’t want to miss the opportunity, for her son and for all the other patients, like him. An occasion also for her to thank doctors and researchers.
In February 2021, his son Léon was 4 months old when doctors diagnosed him with spinal muscular atrophy. At that time, his health worsened: he lost muscle strength. Two months later, Laurane and her husband agree that their child will benefit from the first available cure for this disease: a gene therapy drug, a synthetic gene. “It’s a single shot“explains his mother Laurane, an injection that will change her son’s life.
Before the treatment, Léon no longer moved his arms or feet, he no longer turned his head. And the summer after the injection, he started throwing his arms like a child his age
Laurane Mirzin, mother of Leon
Leon is fine today. He holds his head, he can sit up, he starts moving his legs. The child is being followed by the medical team of the Trestel rehabilitation centre. He sees a physical therapist, an occupational therapist and makes progress.
He wears a corset, sleeps on a special mattress that preserves him and allows him to keep his strength up for the day. He also has an adapter to help him breathe at night. Leon also starts using an electric wheelchair to get around.
“He’s always in a good mood“says his mother.
Spinal muscular atrophy affects between 80 and 100 children a year in France. It leads to premature death of motor neurons and motor loss. The muscles of the pelvis, lungs, trunk, arms and legs are loosened.
There are several types of spinal muscular atrophy, ranging from types 0 to 4. They are all rare genetic disorders that affect nerve cells. These pathologies can, as with Leon, begin at birth, but sometimes occur in childhood or even in adulthood.
The gene therapy drug that saves these patients was developed, according to Telethon, in the laboratories of Généthon, created in Évry-Courcouronnes by the AFM Téléthon association in 1990.
Gene therapy against spinal muscular atrophy was the first to be marketed, in 2019. It was yesterday and this drug has already saved dozens of children, like Léon.
The Telethon will take place next weekend. The official launch will take place on Friday 2 December at 18:40 on France 2 with Kev Adams, the godfather, Sophie Davant, Nagui and Cyril Féraud.
There will also be thousands of demonstrations, challenges and field activities with highlights in four cities across France where more than 200,000 volunteers and millions of participants are expected: Dijon (Côte-d’Or), Lorient (Morbihan), Guebwiller (Haut – Rhine) and Cassis (Bouches du Rhône).
Last year, all the shares and donations made it possible to raise 85.93 million euros.
