SMA caregivers face complex decisions in new era of treatment
Canadian study: Factors including financial resources influence care choices
Various ethical and social factors influence care decisions for families affected by spinal muscular atrophy (SMA) in this new era of disease-modifying therapies (DMTs), according to a Canadian study.
In interviews, caregivers reported that a range of factors, including financial resources and their expectations of treatment outcomes, influenced their treatment and care choices.
“Understanding the experiences of families from different backgrounds receiving various treatments for their child with SMA will allow more appropriate distribution of targeted resources, better [counseling] and supports for families facing unique psychosocial challenges and treatment burdens, and overall improved delivery of patient and family-centered care,” researchers wrote.
The study, “Disease-modifying therapies for spinal muscular atrophy: Family experience, ethical considerations, and the role of social determinants of health,” was published in the Journal of Neuromuscular Diseases.
SMA treatment makes care decisions more complicated
SMA is a genetic neuromuscular disease wherein the specialized nerve cells that control movement are progressively lost, leading to muscle weakness and wasting.
Over the last decade, three DMTs have been approved for SMA: Spinraza (nusinersen), Evrysdi (risdiplam), and the gene therapy Zolgensma (onasemnogene abeparvovec-xioi).
While these treatments have substantially improved the long-term outlook for people with SMA, they also come with more complex decision-making for families. Various factors, including economic stability, access to education and healthcare, and social environments, may influence treatment and care decisions.
“Better appreciation of the ethical and social factors affecting the care experience of children with SMA can improve the ability of clinicians to deliver family-centered care, address unique challenges faced by families, and participate in decision-making conversations about the type of disease-modifying therapy to initiate,” the researchers wrote.
Caregivers’ expectations differed based on their child’s clinical status
To learn more, the researchers interviewed 15 caregivers of children with SMA types 1, 2, and 3 who were treated with any of the three SMA therapies at a hospital in Canada.
In the interviews, the caregivers reported that making the best care decisions for their child required considering how treatment would affect the disease experience and their expectations of treatment outcomes.
These expectations differed based on their child’s clinical status. Parents of presymptomatic children hoped that Zolgensma gene therapy could effectively be a cure, allowing the children to live a “normal” life.
It’s hard because you mourn the fact of her not growing typically, but you’re very thankful for the fact that she is alive.
The parents of symptomatic children hoped the chosen treatment would help children maintain independence and happiness. For those caring for severely affected children, the goal was often to prolong life.
The interviewees commonly reported tension between their hope for improvement and the need to accept their child’s disability. They also noted tension between the need for treatments to prolong life and the physical or emotional burden of these treatments, which can negatively affect life quality.
Making these care decisions posed a mental and moral burden for the caregivers, leading to feelings of responsibility, guilt, and identity loss. Some caregivers reported a complicated mix of emotions, including gratitude for more time with their child, but also feelings of fear, uncertainty, and grief.
“It’s hard because you mourn the fact of her not growing typically, but you’re very thankful for the fact that she is alive,” one parent said in the interview. “It’s tough mentally. It’s very tough…. It’s a constant grief that I live with.”
Economic instability a source of stress for some families
The families mentioned several factors that impacted their ability to access or implement care for their child.
Economic instability was noted as a source of stress for some families, with some caregivers facing changes in their career trajectories or restrictions on educational opportunities.
Across families of varying income levels, none felt that finances impacted the quality of care their child received at the hospital. However, some felt that accessing publicly available services was less convenient or efficient than using private resources.
Along with clear and transparent communication with the healthcare team, the caregivers felt that being personally empowered with the medical knowledge to solve problems at home was key to the care experience.
Finally, social and community context strongly influenced families’ experiences. The interviewees highly valued informal and formal support from friends, family, peers, social media, and patient support organizations.
For example, one family could fundraise for their child to receive Zolgensma before it was available for reimbursement through Canada’s public healthcare system. Conversely, non-English-speaking and immigrant families had more limited access to familial and community support.
Such findings highlight “disparities in healthcare navigation even in a publicly funded healthcare system,” the researchers wrote. “These concerns highlight the importance of more supportive infrastructure for caregivers and children living with SMA that may address inequities and relieve caregiver burden.”
This study was conducted in Canada, where patients have access to a publicly funded healthcare system. The findings may not be generalizable to other areas.
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