Spinal muscular atrophy (SMA) patients transitioning from pediatric to adult care face unmet health needs and possible barriers to health services, according to a study aimed at providing insight into how adults with SMA experience the healthcare system, with a particular emphasis on their transition from pediatric to adult care.
Findings suggest that adult SMA patients would benefit from improved services that are tailored to meet their unique needs and to support their transition from pediatric to adult care.
The study, “Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being,” was published in the Orphanet Journal of Rare Diseases.
People affected by SMA require lifelong support and medical care to ensure they can function and maintain their quality of life. With ongoing advances in care and treatment, survival and treatment outcomes are continually improving.
Currently, about one-third of SMA patients are adults. However, most SMA research has focused on pediatric patient populations; little is known about how SMA affects adults physically, socially, or psychologically.
The researchers behind the study conducted semi-structured interviews with 19 individuals with SMA, 17 of whom had already undergone the transition from pediatric to adult healthcare services. One patient was in the process of this transition; one was still receiving pediatric care. They also interviewed one partner of an SMA patient and five parents of SMA patients.
Overall, SMA patients’ view of healthcare — particularly the transition from pediatric to adult services — was somewhat negative; all but one of the adult patients described the process as “challenging and scary.”
“Going from a children’s hospital where they explain everything in great detail, to the adult [healthcare environment] where they expect you to know the majority of things, you pretty much had to be on the ball all the time,” said one patient in the study.
A few patients reported positive outlooks on healthcare, particularly if they were able to develop meaningful relationships with doctors who had expertise in treating SMA patients. However, many patients expressed frustration, particularly when their primary care provider’s expertise was limited.
“I still do actually see someone … all he does is check up on me and refer me to other services if I need to. But my experience then is he has no idea really what SMA is,” a patient said.
Of the 17 adult patients, 10 reported disengaging from health services following the transition out of pediatric care. This was closely tied to how beneficial patients perceived the care to be; those with less severe symptoms were more likely to disengage.
These gaps in formal care were often filled by friends, family, and peers, but these were generally seen as unsustainable over time, particularly for patients with more severe disease.
Several participants would like to see “tailored, disease-specific, adult multidisciplinary clinics with a strong focus on holistic, patient-centred care co-ordination,” the researchers wrote. These clinics could also allow patients and caregivers access to emerging therapeutic research and clinical trials.
“There needs to be a specialist neurology clinic that deals with people with SMA, that understands all the issues that we have and that can effectively support people to connect with the appropriate allied health supports … the latest research, the clinical trials,” an SMA patient said.
Many patients also stressed the importance of psychological, in addition to physical, well-being.
“If you don’t have that mental state, no matter whether you can walk or not, it doesn’t make a difference. You will not be able to communicate with people,” a patient said.
Patients reported that a strong social support network — particularly peer support from other people living with SMA — was critical for maintaining a positive mental state.
As one patient put it, “I think there’s merit in getting assistance through social workers and whatnot, but I don’t think it holds as much merit as seeking it from someone who has actually done it and lived it and experienced it.”
Stigma, as well as cultural stereotypes of disability, also influenced how patients experienced their life with SMA.
“I sort of prescribe to the notion that most of the symptoms of my disability are societal not medical,” a patient said.
“Growing up, I was kind of told that when you have a disability, people don’t really want you … We all [siblings] went to uni, but in terms of getting a job, having a family, having a house – just sort of things that people do in life – [my parents] sort of had that attitude where that’s not really going to happen for me,” another patient said.
This study highlights the need for improved systems for transition from pediatric to adult healthcare for SMA patients, and it emphasizes the importance of mental health on top of physical care for these patients.