Donations to advance medical research. For 37 editions, the Telethon has been an opportunity to highlight certain serious pathologies and research to find a treatment. This is the case, for example, of spinal muscular atrophy, a rare and very severe genetic disease, which causes progressive paralysis of all limbs and is life-threatening. Before the advent of gene therapy treatments, babies died before the age of two. Thanks to the Téléthon laboratory, called Généthon and financed via revenues from the show, a treatment was found and it revolutionized little Victoire’s life.
“A restart of his life”
Raising your head, turning around on the play mat or grabbing your toys… at the age of 5 months Victoire was no longer able to do these small, yet innocuous, gestures. Spinal muscular atrophy caused muscle wasting. But a single injection, a gene therapy to add a synthetic gene, which Victoire was missing, changed everything, says Laetitia, her mother. “Two or three days later, her head was straight. So that was super impressive. And a week later, she was able to sit upright with her head straight. It was wonderful. She put her little toys in her mouth , like a normal child. You could say that it was a restart of his life. It was magical,” she explains, smiling.
Today, Victoire is four years old. She walks, but she still has muscle weakness. After-effects that she could have avoided if she had benefited from treatment earlier. “When children have been treated very early, very symptomatically, a few weeks after life, we have children who do not show signs of the disease,” describes Frédéric Revah, director of the Généthon laboratory. The latter therefore campaigns for spinal muscular atrophy to be added to the list of pathologies detected at birth. As a reminder, if you wish to make a donation during the Telethon, a telephone number: 3637.