Question 7786 — diseases

Summary

The Institut Lejeune-Hôpital Saint Joseph had submitted a file as part of the call for applications for the labeling of reference centers for rare diseases 2017-2022. However, after collegial and independent expertise, the jury set up to examine the files received did not accept this application (as was the case for 128 others) and the recommendations made by the jury were respected by the Minister of solidarity and health. However, it is important to emphasize that the care of people with Down syndrome is in no way called into question. Indeed, Orphanet, the portal for rare diseases and orphan drugs, lists 101 certified reference centers likely to treat this disease. These centers are mainly linked to 3 sectors: AnDDi-Rares, DéfiScience and NeuroSphinx. They allow us to have a finer territorial network and thus cover the entire national territory as required by the law of July 24, 2019 relating to the organization and transformation of the health system. One of the coordinating centers of the AnDDi-Rares sector also has a new National Diagnostic and Care Protocol (PNDS): “Medical and paramedical care of children and adults with Down syndrome 21”. The drafting of this PNDS brings together more than forty experts from reference centers on rare diseases attached to health sectors: AnDDI-Rares, DéfiScience, SENSGENE, NeuroSphinx, G2M, MARIH, Fimarad, Brain-Team and FAI2R. The Ministry of Solidarity and Health financially supports this project. Children and adults with Down syndrome can also contact associations such as “Trisomie 21 France” or the “Fédération of Associations for the social integration of people with Down syndrome”. These associations regularly organize conferences with rare disease health sectors.

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