Disease-modifying therapies for spinal muscular atrophy: Family experience, ethical considerations, and the role of social determinants of health

Objectives: Spinal muscular atrophy is a progressive neuromuscular condition associated with a complex chronic disease course. An in-depth understanding of the ethical issues and social determinants of health impacting the experiences of families and children living with this condition is critical to improving care delivery. We identified the ethical tensions faced by families caring for children with spinal muscular atrophy as well as the influence of social determinants of health in relation to their perception of novel disease-modifying therapies. Design: Qualitative study including semi-structured interviews with caregivers of children with spinal muscular atrophy who received disease-modifying therapies. Interviews were audio recorded, transcribed verbatim, and coded. Thematic analysis was utilized to identify ethically salient themes. Setting: The Hospital for Sick Children (Toronto, Canada) Results: Fifteen family caregivers of children with spinal muscular atrophy type 1 (n = 5), type 2 (n = 5), and type 3 (n = 5) participated. There were three core themes highlighted including (1) best interests of the child, (2) burden of care and associated moral distress, and (3) parent agency. These experiences were impacted by resources and social determinants of health. Conclusion: This study provides important insights into the ethical tensions and relevant social determinants of health impacting the caregiver experience. Understanding the experiences of diverse families will allow more appropriate resource distribution, better counselling and supports for families facing unique psychosocial challenges and treatment burdens, and overall improved delivery of patient and family-centered care.