It is an early onset disease that can kill a child within a few years. Spinal muscle atrophy, which can be treated provided you act very quickly, will finally be subject to genetic screening from birth in a part of France. “This neonatal screening is extremely important: you really should not hesitate to put this in place as soon as possible because we are saving a lot of children,” explains Julie Teys, whose baby died. was diagnosed with spinal muscle atrophy when he was born in 2019 in Belgium.
A disease that affects hundreds of babies each year
This disease of genetic origin affects about a hundred babies each year in France. The neurons that control movement are gradually broken down, causing the muscles to weaken. In its most severe form – about half of the cases – this disease kills the affected child in less than two years, and quickly suffers from difficulty eating or breathing. Oscar, son of Julie Teys, escaped. He is now three and a half years old and living an almost normal life. “He has very few symptoms: he walks, he runs, he goes to school; he has no braces, he does not have a wheelchair, he does not need breathing assistance,” she explains.
If this “miracle,” in Julie Tey’s words, occurred, it’s because Oscar’s genetic mutation was discovered at birth before the first symptoms of the disease. However, in some years, treatments exist – developed by the laboratories Biogen, Novartis and Roche – but they are much more effective if taken before the disease appears, because the breakdown of neurons is irreversible.
A screening program tested in the Grand-Est and New Aquitaine
Screening at birth is therefore crucial. The fact is that if Julie Teys had given birth in France, her baby would not have benefited from it: this disease is not subject to widespread identification there, unlike many countries such as Belgium and Germany as well as much of the United States.
From the fall, things will change, but only in two regions: Grand-Est and New Aquitaine, which will experiment for two years with a screening program. If this proves to be a success, an extension will be possible throughout the country.
Particularly restrictive French legislation
Why such a delay, when France a few decades ago was a pioneer in detecting serious diseases at birth? This is because spinal muscle atrophy can only be detected in a “genetic” way, by directly identifying an unusual mutation in that gene. In contrast, current neonatal screenings, for example for sickle cell disease, show whether the baby’s blood contains unusual elements, such as certain proteins, which are in themselves a consequence of the genetic mutation.
However, French legislation has long been particularly restrictive in terms of genetic screening. To approve this, the parents had to go through a series of in-depth interviews, an unrealistic procedure for generalized screening. Things changed with the Bioethics Act of 2021. A change significantly eased the rules in this area and paved the way for the experiments that will be conducted in the fall.
Some MPs had talked about eugenics
It will be “the first genetic screening study for a disease in France: (…) it is something that will open up a new drug”, Christian Cottet, general manager of the French association against, welcomed on Tuesday during a press conference . myopathies (AFM), which organizes Telethon and participates in this study. But to get there, the journey has not been easy, especially in light of the reluctance of certain political leaders when it comes to genetics.
Thus, during the debates in the National Assembly on the law on bioethics, some deputies had spoken of “eugenics”, such as the elected representative of the right wing Patrick Hetzel. He had mentioned the science fiction film “Welcome to Gattaca”, which describes a society where genetic inheritance determines an individual’s social path. These debates are worth “another period”, says Julie Teys, who wonders about a French peculiarity in the case. “I do not understand today that we can think such a thing: why do we wait for the disorder to set in if we can avoid or limit them?”, She concludes.