2024-03-02 05:00:19
A health staff carries out a preventive examination on a newborn, allowing the detection of certain rare diseases, at the Nancy regional university hospital center, November 21, 2022. FRED MARVAUX/REA
The fourth Rare Disease plan was expected this Thursday, February 29, International Rare Disease Day. It will finally be presented before the summer of 2024, announced the Minister of Health, Catherine Vautrin. “We must do everything to improve their care”she indicated on the X network. She outlined the ambitions: a “massive investment” of 36 million euros and the certification of 132 new expert centers (there are 603 in total).
A disease is said to be “rare” when it affects fewer than one in two thousand people. In total, these pathologies affect more than 3 million individuals in France, 30 million in Europe. Lupus, cystic fibrosis, Duchenne muscular dystrophy, sickle cell anemia, Crohn’s disease… Nearly 7,000 rare diseases have been identified to date, of which around 80% are of genetic origin and 70% appear before the age of 18.
Professor Agnès Linglart, president of the French Pediatric Society, coordinator of the Oscar rare diseases health sector (network of players in rare diseases of bone, calcium and cartilage), and Professor Guillaume Canaud, nephrologist at the Necker hospital (AP-HP), were mandated by the government to coordinate the fourth rare diseases plan.
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“Making a diagnosis of a rare disease still remains a major challenge and despite immense progress, only 5% of rare diseases benefit from treatment for their indication”, underlines the Ministry of Health in a press release dated February 29. There is a “hole in the racket” for ultra-rare diseases, one person in a million, which constitute 85% of rare diseases, estimated Laurence Tiennot-Herment, president of the French Association against Myopathies (AFM)-Téléthon, during a press conference, the February 27: “Clinical trials are being carried out, but the industry is not interested. A public fund is needed to finance access to treatments. »
More than five years before a diagnosis
The actors of the Rare Diseases platform – a resource center which brings together representatives of patient associations and health and research professionals – have long denounced the wandering of patients, who take on average more than five years to be diagnosed. “We must work with health personnel on the culture of doubt, which boils down to one question: what if it was a rare disease? insists Agnès Linglart. We regularly see people arriving who have been wandering for years. In most cases, they had early symptoms that did not cause alarm. »
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