Somewhere to go: a position paper on addressing gaps in transition care for adults with childhood-onset rare diseases

Abstract

Adults with childhood-onset rare disease face many challenges when transitioning from pediatric services to adult care. While they often received specialized pediatric care, the adult healthcare system provides few resources for those whose rare disease began in childhood. Many adult care providers are hesitant to take on adults with rare disease and may shunt them elsewhere. Treatment recommendations are evolving rapidly, making it difficult for any clinician to stay up to date, and patients with rare disease often have special needs that must be addressed by multiple specialists at once. These young adults are often faced with “nowhere to go” for care. A pressing question is: What can be done now to help adult patients with rare diseases gain access to the care they need. In response, a patient-community-driven, solution-oriented conference was held, entitled, “Somewhere to Go for Adults with Childhood-Onset Rare Diseases: A Conversation About How We Can Fill Gaps in Care.” The purpose was to bring the rare-disease community together to explore action steps that could be taken in the next two to three years to address the growing, national care crisis for adults with rare diseases transitioning from pediatric to adult care. This position paper provides an overview of the key topics discussed and summarizes the 21 prioritized, actionable recommendations produced.