Qualitative needs assessment of financial impact on caregivers of children living with rare diseases

Purpose Families caring for children with rare diseases face sustained financial, emotional, and systemic challenges, yet cross-disease, cross-regional data remain limited. This study investigates the financial impact of caregiving from the perspective of rare disease advocacy organisations, rather than by caregivers themselves, focusing on costs, structural barriers, and potential reforms. Methods Semi-structured interviews were conducted with 45 rare disease organisations (24 U.S., 21 Europe). Purposive and snowball sampling ensured breadth. Interviews were transcribed, translated where needed, and thematically coded by six analysts using a validated framework (Cohen’s κ ≥ 0.80). Frequency analysis quantified recurring themes; narrative synthesis integrated cross-case patterns. Findings Eighty-two percent of organisations reported chronic caregiver financial distress, with average household income losses of €500–€2,000 per month. Out-of-pocket costs for therapies, assistive devices, home adaptations, and travel were widely cited and often unreimbursed. Structural barriers, including restrictive eligibility, administrative complexity, and geographic inequities, were reported in more than 250 references. Approximately 80% of caregivers were women, disproportionately facing employment disruption and emotional strain. Secondary impacts included debt, housing instability, marital breakdown, and reduced educational participation for affected children. Conclusion The financial toll of rare disease caregiving is compounded by fragmented support systems and inequitable access to benefits. Advocacy organisations identify urgent needs for caregiver recognition and compensation, streamlined benefit processes, expanded coverage for non-clinical costs, and harmonized cross-regional standards. These findings provide a policy-relevant evidence base to address structural drivers of caregiver financial hardship.