Abstract
Introduction: The harm experienced by family members regarding the diagnosis of Spinal Muscular Atrophy (SMA), which involves healthcare professionals’ approaches, family illness, changes in family dynamics, adverse reactions to treatment, treatment costs, and legal disputes, causes emotional distress and affects the health of family members. Objective: To understand the main challenges, distress, and perceptions of family members of children with SMA who underwent gene therapy in their search for healthcare and pharmaceutical care. Methods: This qualitative study used a comprehensive approach, chosen because it allows the exploration of complex and subjective aspects, enabling the understanding of beliefs, values, and healthrelated practices. Data collection was conducted through a semistructured interview guide with openended questions on the topic. Eligible family members were initially invited through the team of healthcare professionals who follow the children at the participating centers. The researchers were introduced to the families, telephone contact was established, the study was explained, and an explanatory video about the study procedures, the interview guide, and the Informed Consent Form (ICF) were sent by email and/or WhatsApp. Thematic Analysis was used for data analysis, developed according to Minayo’s framework (2014) through the following phases: preanalysis, floating reading and definition of recording units; material exploration and categorization; treatment of obtained results and interpretation. Results: The study, based on interviews with 12 mothers of children with 5q SMA, analyzed suffering according to Lazarus and Folkman’s framework, classifying events as harms, threats, and challenges. The statements revealed barriers to treatment access, tensions with healthcare professionals, resistance to family decisions, legal actions to obtain equipment, and lack of specialized services. Difficulties with mobility, fatigue, children’s feelings regarding limitations, prejudice, social exclusion, and lack of support for school inclusion were also reported. Despite emotional and material burdens, mothers developed coping strategies such as negotiating with physicians, traveling to other locations, pursuing legal actions, reorganizing family routines, and using specialized knowledge. Care was continuous and exhausting but sustained by trust, persistence, and hope. Adverse events related to gene therapy were identified in two subcategories: threat and harm. The threat subcategory referred to fear of these reactions occurring, while harm referred to cases in which such reactions had already manifested, causing losses for both children and parents. The cost of the medication was also reported as a harm by participants. Conclusions: The emotional burden experienced by families of children with SMA is significant. The stressful events identified in this study highlight the complexity of the demands faced by families, demonstrating the constant need for assessment and reassessment of situations in order to propose strategies to address their lived experiences.
