The ELA International association is mobilizing to ensure that leukodystrophies, a set of genetic diseases affecting the “white matter” of the brain, are detected in all infants.
- The ELA International ethics committee says it is very favorable to neonatal screening for leukodystrophies which may benefit from treatment.
- “Effective treatment exists provided that it is administered very early, even before the first symptoms appear,” he explains.
- Leukodystrophies are a group of serious genetic diseases affecting the “white matter” of the brain.
“The policy of the first child saving the second is intolerable!” In a press release, ELA International campaigns for the identification of leukodystrophies to be done from a very young age.
“Diagnosed too late, Alice lost her speech and mobility in less than a month… Following this cataclysm, her little sister Coline was able to be detected very early, even before the first symptoms of the disease. which changed everything for her. Coline was able to be saved thanks to an innovative treatment”begin the members.
“This story is the same for Mathieu with his little sister Eléonore, for Nathanaël and his little brother Augustin, and for many others… This has been going on for several years and could be repeated for a long time if we don’t say STOP! This sacrifice of the elders is not inevitable”they continue.
“All these children could have been saved because effective treatment exists provided that it is administered very early, even before the first symptoms appear,” they explain.
Neonatal screening for leukodystrophies: “some states have already implemented it”
In its referenced opinion of January 2024, the ELA International ethics committee composed of experts from all backgrounds therefore says it is very favorable to neonatal screening for leukodystrophies which can benefit from treatment.
“Certain foreign states have already implemented it. It makes it possible to identify children at risk of developing leukodystrophy and to monitor them,” underlines the patient association. “The cost of the test is derisory (less than 1 euro/test) given the seriousness of the disease and the enormous repercussions on the entire family,” she adds.
Birth screening: what are the symptoms of leukodystrophies?
Leukodystrophies are a group of serious genetic diseases affecting the “white substance” of the brain, which essentially includes the myelin sheaths surrounding the extensions of neurons. Leukodystrophies vary depending on the individual, causing a loss of communication between neurons and the appearance of motor, cognitive, psychiatric or sensory symptoms.
“In the juvenile form, patients die before the age of 20. In the adult form, the progression can last 20 to 30 years,” can we read in a file of The Dispatch.
Every week in France, 3 to 6 children are born with leukodystrophies (i.e. 20 to 40 in Europe).
