At 18 months, Victoire was not walking. During a consultation, the pediatrician noted a muscular deficiency in his legs. Immediately, tests are carried out. All it takes is a simple blood test to make the diagnosis: she has spinal muscular atrophy, a rare genetic disease that affects on average one in 6,000 childrenaround 120 births per year in France.
Fast support
This news is obviously an upheaval for Victoire’s parents, based in Lassy to the south of Rennes. But the The good news is that there is a solution. The AFM-Téléthon developed a drug five years ago thanks to donations collected. “It was a relief. Everything went very quickly, because the earlier the treatment takes place, the less damage there is to the muscle. Once the diagnosis was made, we were in Paris two weeks later so that Victoire could benefit from gene therapy treatment. The goal is to reintroduce into your body the gene that it is missing” explains Floriane Duru, his mother. And for that, one injection is enough. There is no other treatment except regular physiotherapy sessions.
Almost immediate progress
“Two or three weeks after the injection, we started to see progress. Victoire has regained strength in her legs. We saw her climb small heights, which she didn’t do at all before” explains Floriane Duru who, two years later, now sees her daughter able to take a few steps and move around on her own. As for its development in the future, it is difficult to know. “The doctors don’t have any perspective so they can’t tell us if she will be able to walk normally. We, her parents, are certain that she will be able to do it over short distances, which will already be great, but we have no visibility, we are moving blindly.“.
“The research must continue”
At four years old, Victoire has already heard about the Telethon and she will accompany them this weekend on one of the activities intended for collect donations. “We must continue to give. We are currently fortunate that there is a treatment for Victoire, but there are many other genetic diseases which do not have one and for which research must continue.” concludes Floriane Dutu.
The 38th edition of the Téléthon, chaired this year by the singer Mika, will begin at 6 p.m. this Friday, November 29, 2024. This will be followed by the traditional 30 hours of live broadcast on France Télévisions, which will set up its cameras in Quimper, one of the four ambassador cities this year. year. You can donate for research by telephone at 36 37 or on the website afm-telethon.fr.
Hundreds of demonstrations are also planned throughout Brittany. The Telethon made it possible to raise 92,905,533 euros in donations in 2023.
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