“France is far behind in neonatal diagnosis,” points out the vice-president of a collective

“France is far behind in neonatal diagnosis”, points out Thursday February 29 on franceinfo Jean-Philippe Plançon, vice-president of the Rare Diseases Alliance, a collective which brings together 240 associations of people affected by rare diseases. The Minister of Health and Labor, Catherine Vautrin, must announce additional funds on this International Rare Disease Day, affecting less than one in 2,000 people, before presenting a plan in the spring.

More than 7,000 rare diseases have been identified by research, such as cystic fibrosis, Ménière’s disease, Huntington’s disease, Charcot’s disease, Crohn’s disease and even Duchenne muscular dystrophy for the best known. There is only treatment for 5% of them, although three million French people are affected.

Improving diagnosis is essential, according to Jean-Philippe Plançon, who emphasizes that “our German, Italian and Dutch neighbors diagnose thirty diseases, while in France, we are only thirteen. This choice, made by our country, must be re-examined, all the more quickly as we have treatments for certain diseases.”

The vice-president of the Rare Disease Alliance takes spinal muscular atrophy as an example, a hereditary disease affecting the muscles, which can lead to the death of young children in the most serious cases. “It is not normal today that in Germany, we can diagnose this disease, and that in France, we are still in a pilot project of which we do not yet know what will become of it. There is something that is dysfunctional and endangering the lives of our babies.”