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An illness is said to be rare when it affects less than one in 2,000 people. There are more than 6,000 of them today and five new ones are described each month in the medical literature. In France, these diseases affect 3 million people: "it is the diseases that are rare, not the patients", likes to remind Isabelle Thuault-Varnet, regional delegate Grand Est alliance Rare Diseases.
These figures were remembered mid-June in Nancy, during a forum that brought together patients and health professionals around these pathologies whose commonalities are diagnostic wandering (more than 4 years in a quarter of cases), the scarcity of research , treatments (95% of rare diseases have no cure) and the "scarcity of expertise", as summarized by Paul Gimenes, general director of the Alliance Rare Diseases. "We have reference centers that are high places of expertise in the University Hospital of France but it must be transmitted." Another difficulty to overcome: breaks in the course with "integration difficulties at school, at work …" On all these points, patient badociations expect "a lot of the rare diseases plan No. 3," says Paul Gimenes.
Against diagnostic wandering, there are many tools that are intended for both patients and health professionals such as the platform Maladies ares info service or the site orphanet.fr, information validated, free access and free.
Dedicated axis in the Regional Health Plan
The Alliance Rare Diseases, a collective of 218 patient badociations, is extremely active in the East. Its Regional Health Plan will be the only one in France to dedicate an axis to rare diseases. The region is also a land of experimentation. A meeting between Isabelle Thuault-Varnet and a pharmacy student culminated in the establishment of two awareness modules for rare diseases at the Reims Faculty of Pharmacy, to support patients. The faculty went even further this year by integrating questions on rare diseases in some examinations.
Another interesting experiment showing the important role of resource patients in the training of tomorrow's health professionals: in Nancy this time with intervention of patients in interregional courses Grand Est / Bourgogne, Franche-Comté, explains P r Stéphane Zuily, coordinator of the center of competence of Marfan syndrome at the University Hospital of Nancy.
L announcement of the diagnosis is a painful moment. The forum in mid-June, through some testimonies, focused on the weight of words. Nancy has set up a faculty teaching "Being a doctor" based on the notions of professionalism, well-being and humanism.
M.H.V.
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