Abstract:

Continuity of care for children and adolescent patients with rare diseases poses a major global public health challenge. In China, rare disease management is plagued by a fragmented healthcare system and poorly coordinated policies, resulting in a significant gap in care during the transition from pediatric to adult services. This disruption often leaves patients without consistent access to effective treatment, reducing their quality of life. Moreover, rising loss-to-follow-up rates further threaten patient survival and well-being, undermining the development of rare disease research and clinical practice in the country. Addressing the transition from pediatric to adult care for rare diseases involves not only scientific hurdles but also systemic and structural barriers. Building on innovative approaches from specialized domestic hospitals and international best practices, this paper provides a systematic analysis of the key obstacles and transformational strategies needed to enable continuous care. We propose a multidimensional approach that integrates policy, technology, and clinical practice to establish a lifelong management system spanning "Screening - Intervention - Rehabilitation - Follow-up." This model aims to shift China’s rare disease management from a "passive continuation" approach to "Active Transition" strategy.

Key words: rare disease, children and adolescents, transition, continuity of care