Jules is a miracle. This 6-year-old boy suffers from an extremely rare neuromuscular disease, myotubular myopathy, which in the short term dooms young patients who suffer from it. A prisoner of his body, unable to breathe and walk until he was 4 years old, the boy has still seen his life change thanks to gene therapy financed in large part by donations from the Teletón that begins this Friday.
“He started to know how to hold his head up a bit, and then from one thing to the other we got to sitting up, weaning off ventilation 24 hours a day with night support only when he’s congested,” his mother, Anais, explains to BFMTV.
Now Jules can walk with a walker and even go to school like any other child. “I love walking, dancing, singing and going to the Teletón”, he assures us. “His life began on the day of the first injection. He was passive in his life and now he is active in his life,” Wilfried, his father, rejoices.
“It is a big step”
The miracle came from the Généthon laboratory, which after eight years of work managed to launch an experimental treatment that changed everything in just two weeks.
“What we have done is to develop and produce with the Genethon teams this vector-drug that contains this gene-drug. We really hope that it will lead to other therapies and treatments for other children suffering from other myopathies. It is a great step”, says Ana Buj Bello, Inserm’s research director, who participated in this work.
As indicated below the parisianJules is one of the first patients in the world and the only Frenchman to benefit from this experimental treatment that consists of replacing the mutated gene, which is at the origin of the disease, with a “healthy” copy.
The little one has become the symbol of the success of the Telethon that begins this Friday night and ends on Sunday. you can donate to 3637 or directly from the venue of the event, which raised 85,933,166 euros in 2021.
Source: BFM TV
