It is an early onset disease that can kill a child within a few years. Spinal muscle atrophy, which can be treated if you work too fast, will eventually be the subject of genetic screening from birth in parts of France. “It’s crucial, screening this newborn: you really shouldn’t hesitate to place it as soon as possible because we’ve saved a lot of babies,” explained Julie Tais, AFP, whose baby died. He was born in Belgium in 2019 when he was diagnosed with spinal muscle atrophy.
A disease that affects one hundred children every year
This disease of genetic origin affects more than a hundred children in France every year. The neurons that control movement gradually decay, causing the muscles to weaken. In its most severe form – in about half the cases – the infected child dies in less than two years, having difficulty eating or breathing fast. Oscar, son of Julie Tais, escapes. He is now three and a half years old and lives a normal life. “She has very few symptoms: she walks, runs, she goes to school; she has no braces, she has no wheelchair, she doesn’t need breathing help,” he explains.
If this “miracle” occurs in the words of Julie Tais, it is because Oscar’s genetic mutation was detected at birth, before the first symptoms of the disease. However, over the years, therapies developed by Biogen, Novartis and Roche Laboratories have existed, but they are much more effective if taken before the disease is declared, because the degeneration of neurons is irreversible.
A screening program tested in Grand-East and New Aquitan
Screening at birth is therefore extremely important. The fact remains that if Julie Tess had been born in France, her child would not have benefited from it: the disease is not a widely detected disease there, unlike many countries like Belgium and Germany. United States.
Since the fall, things will have changed, but only in two areas: Grand-East and New Aquinas, which will test for two years with a screening program. If it proves to be successful, a nationwide expansion will be possible.
Especially the limited French law
Why the delay, when France was at the forefront of diagnosing serious diseases at birth decades ago? This is because spinal muscle atrophy can only be detected in a “genetic” way, by detecting an abnormal mutation in a directly related gene. In contrast, current neonatal screenings, such as for sickle cell disease, look for abnormal components in the baby’s blood, such as specific proteins, which are the result of genetic mutations.
However, French law has long specifically restricted genetic screening. To approve of this, parents had to go through a series of in-depth interviews, an unrealistic approach to general screening. Things have changed with the Bioethics Act of 2021 An amendment has significantly relaxed the rules in this area, paving the way for autumn experiments.
Some MPs have talked about eugenics
It will be “the first genetic screening study for a disease in France: (…) this is something that will open up a new drug”, “welcomed Christian Cottet, general manager of the French Association for Myopathy (AFM), which organizes the telethon, at a news conference on Tuesday. And participates in this study. But getting there, the journey has not been easy, especially in the face of the reluctance of some political leaders when it comes to genetics.
During the debate in the National Assembly on the law of bioethics, some deputies spoke of “eugenics” in this way, such as the elected representative of the right Patrick Hatzel. He referred to the science fiction film “Welcome to Gattaka”, which describes a society where genetic heritage determines a person’s social trajectory. These debates deserve “another time,” believes Julie Tess, who wonders about a French specialty on the subject. “I don’t understand today that we can think of such things: if we can avoid or limit it, why are we waiting for suffering?”, He concluded.