CHALLENGE
XLH carries a multidimensional burden across the lifespan, with physical, psychological, social and organisational consequences affecting not only patients but also caregivers. Significant unmet needs persist along the diagnostic, therapeutic and care pathway.
APPROACH
A mixed-methods project integrating surveys for patients and caregivers with a Nominal Group Technique conducted by a multidisciplinary Board — including patient association representation — to explore and prioritise needs and challenges along the care pathway.
OUTPUT
166 surveys collected, 40 statements developed and prioritised by the Board, integrated analysis of patient and caregiver unmet needs, and development of a scientific manuscript for peer-reviewed publication.
OUTCOME
The main priorities for improving quality of life and care in XLH were identified, spanning early diagnosis and paediatric-to-adult transition, therapeutic continuity, multidisciplinary care, access to support services, and psychosocial support for patients and caregivers.