Keywords
CHARGE syndrome; Family caregiving; Quality of life; Coping strategies; Qualitative methodology
Abstract
CHARGE syndrome is complex genetic condition that affects approximately 1 in 8,500 to 10,000 newborns worldwide. Individuals living with CHARGE syndrome frequently face significant physical challenges from birth, requiring managed medical and developmental assistance. Many of these individuals are cared for by family caregivers who often report elevated levels of stress. However, as children with CHARGE Syndrome get older, their medical complications often subside. With the resolution of many of their medical complications, it is possible the experiences of these caregivers may be different than the experiences of caregivers for younger children with this condition. The purpose of this study was to determine the quality of life of caregivers of older (18 years and older) individuals with CHARGE Syndrome. A total of seven family caregivers of adult children living with CHARGE syndrome participated in this study. Transcripts from these semi-structured interviews were analyzed using qualitative description methodology. The following four themes emerged from the qualitative interviews: (1) Reshaping Identity and Autonomy, focusing on how caregiving transforms parents’ sense of self and freedom; 2: Emotional Resilience and Coping, highlighting the strategies parents use to manage stress and maintain wellbeing; 3: Systemic Barriers and Support, addressing the challenges with formal systems and reliance on informal networks, and 4: Child’s Health Profile and Responsibilities, detailing the specific medical complexities and daily caregiving demands. The coping strategies and unique approaches to managing difficult times that caregivers in this study described can be helpful to specialists and parent groups as they navigate CHARGE syndrome.