Abstract
The high costs of diagnosing and treating rare diseases impose a substantial financial burden on patients and families, underscoring the need to understand reimbursement experiences and unmet needs to improve medical security. Using Dravet syndrome, a severe and lifelong epileptic encephalopathy, as a representative rare disease, this study conducted an online questionnaire survey completed by 161 respondents, including family members or caregivers of patients with Dravet syndrome. The results revealed that most families had insufficient income to cover treatment costs, with patients' annual treatment expenses generally approaching or even exceeding their families' financial capacity, while 41.67% reported that out-of-pocket payments after reimbursement accounted for more than half of their total treatment expense. Surveyed respondents expressed general satisfaction with various medical security models (over 75%), including basic medical insurance, critical illness insurance, medical assistance, commercial health insurance, and charitable aid. However, challenges remain: the limited funding pool and reimbursement capacity of basic medical insurance, the ongoing development of commercial insurance products (e.g., region-specific Huimin insurance), and the lack of guaranteed scale and sustainability of charitable funding. Thus, further improvements in China's medical security for rare disease are imperative. Key priorities include enhancing policy coherence, improving coordination across security models, and increasing the depth of coverage at all levels to alleviate the financial burden on patients.