19 Mar

L’Hospital Sant Joan de Déu forma part de la XUEC de Malalties Minoritàries

Autor: Comunicació Categories: General, News
L’Hospital Sant Joan de Déu forma part de la XUEC de Malalties Minoritàries

In the families-associations space of the Hospital of San Juan de Dios we met with its coordinator, Anna Bosque, with Dr. Mercedes Serrano, pediatric neurologist specializing in minority diseases and with Mercè Bolasell, case manager, to talk about improvements in the investigation and treatment of minority diseases, such as X-fragile, and the current and future collaborations with our Association.

Anna Bosque tells us about the spaces and services of the Hospital of San Juan de Dios we can enjoy as an association and we value this offer very positively. A GAM will be held soon with relatives of the ACSXF and other events are planned during the year.

Dr. Serrano told us about the operation of the IPER (Pediatric Institute of Rare Diseases) and the future Functional Plan for patients with Fragile X Syndrome, which will begin after the summer and that foresees to group the visits of the different specialists in the shortest time possible. She also tells us that some time ago a group of geneticists was formed among professionals from the reference hospitals in Catalonia, who meet very periodically to talk about issues of pediatric neurology. Likewise, she explains that she is carrying out an investigation – soon to be presented in writing – about the cerebellum of patients of pediatric age, with the intention of improving the assessment of children and quantifying behavior empirically.

As an association, we emphasized the importance of giving voice, visibility and disseminating knowledge of minority diseases, such as X-Fragile Syndrome. Mainly to those families that have just been diagnosed. For this reason, informative brochures will be distributed in different areas of the hospital to reach these new patients.

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