Lucie has spinal muscular atrophy. A year ago, she was able to benefit from a gene therapy treatment based on technologies developed at Genethon. Lucie and her parents will be ambassadors of the 2022 Telethon.
In November 2021, when she was only 9 months old, Lucie was able to benefit from a gene therapy treatment for spinal muscular atrophy, a particularly debilitating neuromuscular disease for which there was, until 2019, no treatment.
From the first months of life, Lucie showed signs of muscle weakness which worried the doctors. After numerous exams, the diagnosis was given to her parents: the little girl had spinal muscular atrophy, a disease characterized by motor neuron degeneration, gradually leading to paralysis, then to respiratory failure. Children affected by the most severe form of the disease have a life expectancy of two years.
Fortunately, since 2019, gene therapy, resulting from technologies developed at Genethon, has been available. Administered in a single injection, it stops the progression of the disease. If the injection is given before the onset of symptoms, the child can expect to have a development similar to that of healthy children. This is why AFM-Téléthon recently launched a pilot neonatal screening program for the disease, which would make it possible to treat children from birth.