Orphanet J Rare Dis. 2026 Jun 5. doi: 10.1186/s13023-026-04410-6. Online ahead of print.
ABSTRACT
BACKGROUND: Xeroderma Pigmentosum (XP), is a rare genetic condition characterised by extreme sensitivity to ultra violet (UV) radiation, conferring a 2,000- to 10,000-fold increased risk of developing melanoma and non-melanoma skin cancers. Families affected by XP face intense emotional strain, ongoing medical surveillance and intervention, and stringent lifelong adaptations to minimise UV exposure. Despite these challenges, little is known about the psychosocial burden experienced by children with XP and their immediate family members. This study explored the lived experiences and support needs, both medical and psychosocial, of families caring for a child with XP.
METHOD: We conducted qualitative semi-structured interviews, in person or via Zoom, with parents and children affected by XP, examining diagnostic experiences, psychosocial impacts, care preferences, and informational needs. The interview guide was developed by a multidisciplinary expert panel. Eligible participants included parents of children with XP, and patients or siblings aged 5-18 years without intellectual disability. Participants were recruited via the Australian Paediatric XP Support Group, representing the full known XP cohort in Australia. Of the seven identified families, five contributed at least one parent participant. Among eight identified children, four were ineligible, and one was not enrolled. Interviews were audio-recorded, transcribed verbatim, and analysed using inductive, line-by-line coding in NVivo Pro. Descriptive statistics summarised participant demographics.
RESULTS: Eight parents (63% female, mean age 45 years) and three children (67% female, mean age 10 years) participated. Four themes emerged: (1) a prolonged and distressing diagnostic journey, often marked by misdiagnosis and uncertainty; (2) strong preferences for integrated, multidisciplinary care to reduce fragmentation; (3) significant psychosocial impacts, including isolation, anxiety-driven vigilance, and challenges adapting to absolute UV-protective routines; and (4) substantial unmet information needs at diagnosis, leaving families feeling overwhelmed and underprepared.
CONCLUSION: Families affected by XP experience significant and enduring psychosocial burden. Findings highlight the urgent need for coordinated, interdisciplinary support that extends beyond medical care. This study contributes to the growing call within the rare disease community for integrated care models that centre patient and family wellbeing.
PMID:42249400 | DOI:10.1186/s13023-026-04410-6
