The impacts of caring for children with inherited metabolic diseases for families: a cross-sectional study

Abstract

Background: Children with inherited metabolic diseases (IMDs) often have high care needs that require extensive involvement of family caregivers. This study aimed to describe caregiver experiences, including management of children’s needs at home, and the impacts of that management on family time, finances, and caregiver and child health-related quality of life (HRQoL). Methods: In this sub-study within a larger cohort study, participants were family caregivers of children ≤ 12 years old diagnosed with an IMD, from across Canada. We collected cross-sectional data using an online questionnaire consisting of validated measures and team-developed questions, and analyzed data descriptively. Results: Seventy-one caregivers participated and reported using a range of supports and interventions to care for their children with IMDs, with dietary supports being most common (77.1%). Twenty-seven participants (45%) reported spending ≥ 4 extra hours per week assisting their child with care supports at home and 28 reported ≥ 6 missed days of work by caregivers in the past year for IMD care. All participants reported fulfillment from caregiving tasks, although 82% reported mental struggles related to caregiving. Based on caregiver reports, children with IMDs had lower HRQoL relative to population normative data. We observed lower median scores for several HRQoL subscales among children with IMDs classified as progressive with multi-system involvement relative to other IMDs. Conclusion: We identified important impacts of IMD care for family caregivers. Relief from high levels of caregiving responsibility and time should be a priority for the development of healthcare policies and interventions, to improve health and well-being for both children and their caregivers.