A new study looks at the balancing act physicians and families must carry out when managing expectations at a time of great scientific advancement in spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD).
Advances in therapy for neuromuscular diseases have put within sight what once seemed an impossibility: curative therapy. Yet, for parents of children with diseases like Duchenne muscular dystrophy (DMD) and spinal muscular atrophy (SMA) type 2, the scientific advances have also raised new questions about how to manage expectations and how to communicate about expectations with their children.
Those thorny issues are the subject of a new article published this month in the journal Nursing Inquiry by Annette F. Mahoney, PhD, of Denmark’s National Rehabilitation Center for Neuromuscular Diseases, and Charlotte Handberg, PhD, of the University of Aarhus.
Mahoney and Handberg noted that both SMA and DMD are debilitating diseases in which children grow up with a high degree of dependency on other people. Though neither condition is yet considered curable, new advances have led to the hope of slowing down, stopping, or potentially even reversing the progression of the diseases. In patients with the most common type of SMA (type 1), treatment before the onset of symptoms can allow children to have near-normal motor development, the authors noted.
Yet, the therapies do not have the same effect on patients with stage 2 or 3 SMA, and even to the extent that the therapies can lead to improvement, they also come with high price tags that can make the medications cost-prohibitive for some patients.
Thus, the parents of children with SMA must live in a space with hope, but still plenty of potential hurdles. In order to get a better understanding of how parents cope with that ambiguity, Mahoney and Handberg used a variety of methods, including participant observation, semi-structured interviews, and analysis of internet data and social media to learn about the hopes and expectations of families of children with SMA and DMD. In total, 6 Danish families with a total of 12 people were interviewed.
What the investigators found was that the new medications were the source of controversy, and that families tended to fall into one of 2 camps.
“Based on the analysis of data, we identified patterns of roughly two groups of parents: one who devoted much of their time advocating for pharmaceutical treatment for their children: ‘the cure optimists,’ and one who had a more hesitant approach: ‘the cure pragmatists,’” Mahoney and Handberg said.
How these attitudes filter down to children can have a significant impact on the child’s outlook and experience, they noted.
“The cure optimists in the present study did not appear to have ethical concerns about actively involving their children in their hopes for the future and using hope as motivation for exercising or as comfort when the child was sad about her or his physical shortcomings,” they wrote.
The optimistic also were willing to let their children participate in clinical trials even if that meant lengthy travel and numerous absences from school, they said.
“Cure pragmatists” tended to worry about giving children false hopes or making their children feel like they were not good enough.
The authors said one approach to decision-making is to actively involve children in the decision-making process. They said some existing research suggests children with DMD rate their quality of life higher than their caregivers do.
All of these data and viewpoints complicate the role for healthcare professionals, who must provide guidance to parents even though the drugs in question are new and their long-term implications may not be known. In addition, the authors said, clinicians sometimes face challenges in keeping parents’ expectations tethered to reality.
“To avoid false hope and therapeutic misconception in parents, it is, therefore, important that health professionals help parents understand the long and complicated process of developing new medicines and the many uncertainties involved,” they wrote.
They said physicians can also play a role in helping foster positive self-identities among patients, including by connecting them with older mentors who have the same health condition.
The authors concluded that while their sample size was small, the concerns raised ought to loom large in the thinking of clinicians and the families they help.
“Even though our study only represents a small sample, we believe the dilemmas presented and discussed to be transferrable to families living with other chronic diagnoses for whom new developments in biotechnical medicine may give rise to similar moral dilemmas over what is the best good for the children,” they wrote.
Mahoney AF, Handberg C. New medicine for neuromuscular diseases: An evolving paradox for patient and family hopes and expectations. Nurs Inq. Published online September 17, 2022. doi:10.1111/nin.12527