Beyond the diagnosis: Living with Stickler syndrome – A qualitative exploration of health-related quality of life in a cohort of adults with Stickler syndrome in Norway

Stickler syndrome is a rare connective tissue disorder potentially affecting vision, hearing, craniofacial structures, joints, and spine. Research on health-related quality of life (HRQoL) in this population is scarce. This study explored how adults with Stickler syndrome experienced and described their HRQoL. Twenty adults with a verified diagnosis took part in semi-structured focus group interviews, and data were analyzed using thematic analysis. Five overarching themes were identified: (1) multifaceted somatic challenges in daily life, (2) work and education, (3) social relationships, (4) self and identity, and (5) coping with everyday life. Participants described challenges extending beyond physical symptoms, affecting their work, relationships, and sense of self and identity. Despite notable resilience, unmet needs in healthcare, welfare systems, and psychosocial support remained. These findings contribute to a better understanding of living with Stickler syndrome and highlight areas for future research and practice.