Abstract
Introduction: Spinal muscular atrophy is a rare genetic disease. Nusinersen and Risdiplam, recognized as disease-modifying therapies, were included in the National Reimbursement Drug List in 2022 and 2023, respectively, in China. Policies have been implemented to enhance a multi-level medical security system, particularly for rare diseases. This study explores the self-perceived burden and offers policy suggestions to improve China's social security for rare diseases. Methods: In our mixed study, we conducted 37 semi-structured online interviews and a quantitative survey with 3 adult SMA patients and 34 family members (primary caregivers) in collaboration with the Meier Advocacy and Support Center. The interviews explored self-perceived burdens in psychology, domestic relations, medical care, rehabilitation, and economy, analyzing mainly through thematic analysis and multiple linear regression. Results: Respondents reported significant psychological burdens mainly stemming from limited treatment access. The instability within these families was linked to inconsistent therapeutic schedules, the lack of development opportunities, and misunderstandings. Choices between institutional and home rehabilitation were influenced by economic conditions and symptom severity. After the inclusion of medications, six patients (16.2%) still had not received pharmacological treatment, and many of those who underwent treatment were dissatisfied with the outcomes. The high costs of rehabilitation, family labor loss, and an incomplete medical security system resulted in significant economic burdens. Respondents called for more effective medications and better patient support. Conclusion: Although the inclusion of medications in National Reimbursement Drug List has improved availability and affordability, families still experienced significant burdens across multiple domains. A broader focus on social security is needed to enhance the comprehensive development of patients with rare diseases.