Diagnostic pathways and unmet healthcare needs in rare diseases: a Romanian survey

Rare disease policy in Europe increasingly emphasises not only timely diagnosis but also the integration of specialist expertise into sustainable national care pathways. We analysed a cross-sectional, network-based online survey conducted in Romania within the ECOU project to describe diagnostic trajectories and principal unmet care needs and to consider their relevance within the evolving European rare disease landscape. Of 799 exported records, 768 met the inclusion criteria and were analysed. The individuals represented included 291 children and 473 adults, with age category missing for four individuals. Amongst 763 responses concerning the diagnostic interval, 47.1% reported diagnosis within 6 months of the first medical consultation, while 32.9% reported intervals of at least 1 year. Two to three physicians were consulted most frequently (39.1%). Amongst 729 responses concerning principal unmet healthcare needs, rehabilitation (22.6%), access to available treatment (21.7%), expert-centre follow-up (14.7%) and psychological counselling (11.1%) were most frequently reported. These findings identify unmet needs extending beyond diagnostic assessment, particularly in rehabilitation, treatment access, expert-centre follow-up and psychological support. They highlight priorities for strengthening links between specialist rare disease services and local health and social care in Romania.