Digital Platforms in the Field of Rare Diseases: a Response to Patients’ Expectations?[Plateformes numériques dans le champ des maladies rares : une réponse aux attentes des patients ?]

Rare diseases are difficult for healthcare professionals to diagnose and manage. In France, over the past twenty years, three national plans have helped structure the healthcare system through the creation of specialized reference and competence centers, followed by rare disease networks within hospitals. Given the chronic nature of these conditions, care coordination and continuity are crucial for patients and their caregivers. Digital health tools make it possible to identify care providers, book appointments, or share information, and are therefore promoted and encouraged by public authorities. A survey of 405 patients shows that they make extensive use of the digital tools available to them to search for information and interact with other patients or associations, thereby developing personal expertise. Yet they are not very familiar with the platforms developed by the rare disease networks or with the tools provided by public authorities. Healthcare professionals, for their part, use digital platforms to inform, train, and share research data, but regret the absence of a national tool to support care coordination. While digital platforms dedicated to rare diseases offer clear advantages, their usability must be significantly improved by adopting a genuinely patient‑centered approach. This is essential not only to simplify access to coordinated care, but also to help restore the human connections that remain indispensable.