Navigating Services in the UK: The Lived Experiences of Families Affected by 22q11.2 Deletion Syndrome

Families affected by 22q11.2 deletion syndrome (22q) face complex health and mental health challenges, yet their lived experiences, particularly within the UK, remain underexplored. This study aimed to understand how families navigate care systems, mental health provision, and the transition to adulthood. Using a participatory action research (PAR) framework, five young adults with 22q and six parents were interviewed, with a steering group co-developing the research questions to ensure relevance and accessibility. Thematic analysis revealed five key themes: lack of professional awareness and diagnostic delays; fragmented and generic care pathways; emotional burden of parental advocacy; systemic gaps during transition to adulthood; and the enabling role of supportive relationships and environments. These experiences highlight a need for holistic, collaborative models of care, improved professional training, and inclusive support systems tailored to the unique needs of individuals with 22q. By centring family voices, this study offers critical insights into systemic barriers and facilitators in the UK, with implications for policy, practice, and future research.