Living in the Shadows: A Qualitative Study on the Lived Experiences of Children with Xeroderma Pigmentosum and Their Mothers

Introduction: Xeroderma Pigmentosum (XP), a rare genetic disorder, drastically increases the risk of skin cancer and neurological issues due to extreme UV sensitivity. While the medical and dermatological aspects of XP are thoroughly studied, the profound social and psychological effects on affected families remain critically under-researched. This qualitative study examines four pediatric patients with XP (aged 10–14) and their primary maternal caregivers to understand the deep psychological, emotional, and social adjustments that these families require.

Methods: Four pediatric patients and their primary maternal caregivers were interviewed using a qualitative design and semi-structured clinical interviews at a tertiary university hospital. To preserve semantic nuances and find shared meaning across individual accounts, inductive qualitative thematic analysis was meticulously applied to the verbatim transcripts.

Results: The thematic analysis revealed distinct interconnected themes, including profound emotional distress, limited child autonomy, chronic social isolation, and severely disrupted family dynamics. Pediatric participants often demonstrated a very limited or superficial understanding of their prognosis, leading to an extreme psychological dependence on parents. Caregivers described a pervasive state of chronic anxiety, mental fatigue, and the immense, non-stop burden of constant medical vigilance, alongside common feelings of abnormality, hyper-vigilance, and overprotection within the social environment.

Conclusions: Holistic, family-centered care models that systematically integrate emotional, psychiatric, and relational support with strict physical medical management are needed urgently. Improving the long-term quality of life and health expectations for children with XP and their families requires structured, age-appropriate clinical information, targeted psychotherapeutic interventions for caregivers, and safe, indoor peer interaction frameworks.