European rare disease policy gaps: Bridging the gap between ambition and lived experience
Despite advances in European rare disease policy, research and specialist networks, significant gaps remain between policy ambitions and the support available to patients and caregivers.
Drawing on the lived experience of Erika Stariha, co-founder of SATB2 Europe and caregiver to a child with SATB2-associated syndrome, Valid Insight examined how effectively existing European policy initiatives respond to unmet needs throughout the rare disease care journey.
What the research found
The research identified nine unmet needs across the pre-diagnosis, diagnosis, and post-diagnosis stages, as well as cross-cutting challenges. These were assessed against 12 EU and UK policy initiatives and programs.
Six of the nine needs were partially addressed, while three remained largely unaddressed:
- Psychological support during diagnostic uncertainty.
- Structured handover to specialist networks and patient communities at diagnosis.
- Sustainable funding for services is often provided by patient foundations.
The findings highlight the need to translate existing policy commitments, research infrastructure and specialist expertise into practical, coordinated and sustained support for families.
Download the research poster below to explore the full analysis, policy mapping and implications for a more effective European response to rare diseases.
