Disease modifying therapies for children with spinal muscular atrophy - parents’ experiences of hopes, grief and need for rehabilitation for their child

Purpose: To investigate how parents of children with SMA who are treated with disease modifying therapies cope with hopes and worries related to disease progression, and to investigate their needs for counseling and rehabilitation initiatives. Methods: The design of this study was qualitative using the Interpretive Description methodology and Joyce Travelbee's theory of interpersonal aspects. The method was semi-structured interviews conducted in Denmark at the homes of the parents or through the online platform Teams between February 29 and May 3, 2024. Findings: Seventy-five parents representing 41 children were invited. Twenty-six parents of 20 children participated in the study. Twenty-four parents were interviewed at home and two were interviewed online. The key element of the parents’ narratives was the reality of the diagnosis: the trajectory toward the diagnosis, getting the diagnosis, and the hope related to the effect af disease modifying therapies. At the same time, they experienced grief related to the uncertainty of the disease progression while hoping for normalcy in the future: a ‘normal’ child and a ‘normal’ life. Finally, they struggled with balancing professional counseling to maintain hope. Conclusions: The families need coordinated, multidisciplinary care and information on disease modifying therapies, including what they can actively do to increase the effectiveness of the treatment. Counseling should include facilitated peer-support and acknowledge differences in children in terms of development, how they respond to the disease modifying therapy, and its long-term effects. Health professionals must tailor their support to the families’ needs and sustain their hopes for the future.