Results of a survey depicting the ways that spinal muscular atrophy (SMA) affects the lives of adolescents and young adults revealed areas of support that need to be addressed to ensure that patients are able to live their best possible lives.
A study assessing the mindsets of adolescent and young adult patients with spinal muscular atrophy (SMA) offered a glimpse into how their disease affects different aspects of life and what they think can be done to improve the lives of future generations of patients.
“It is evident that this population has a big voice with valuable insights, and no one understands the needs of the SMA community better than those directly affected,” noted the researchers. The study was conducted by Cure SMA, an SMA advocacy and research organization, and the results were published in the Orphanet Journal of Rare Diseases.
As the number of therapies for SMA continues to rise, SMA phenotype presentation and prevalence is expected to evolve, leading health care professionals to classify patients based on motor function as opposed to subtypes.
The investigators said that their study is the first to directly summarize the quality of life, successes, and challenges associated with adolescents (aged 12-18 years) and young adults (aged 19-25 years) with SMA without the results being influenced by caregiver proxy or confounded with those of older adults.
Cure SMA collected responses from its Quality of Life Survey, which consisted of 4 open-ended questions, and a video contest. The questions in the survey asked respondents to comment on how their SMA affects their everyday life, schooling, and socialization, as well as what resources they think should exist for teens and young adults with SMA.
Of the 85 survey takers, 44 were adolescents and 41 were young adults. The mean age of adolescent respondents was 15 years and the mean age of young adults was 21 years. Thirty-one of the respondents were female, 1 was male, and 1 was nonbinary.
The video contest, which asked patients to submit 3-minute-long videos discussing how their disease impacts their life, garnered 6 participants. Although the sample was smaller, the findings collected from the videos aligned with those presented in the survey.
In regard to everyday life, the most frequently cited challenges were dependence on others and lack of independence. These respondents tended to be sitters or nonwalkers. Accessibility was another cited concern. Some respondents noted that navigating a large college campus can take a lot of preparation and planning.
The largest response category, including 13 responses, related to schooling was that SMA had no effect. Accessibility was noted by 9 respondents, who had varying degrees of motor function. Eight respondents indicated having to be homeschooled due to potential germ exposure and class placement struggles. Fatigue was also indicated by 8 respondents, which can make it hard for patients to be enrolled as full-time students.
For socialization, SMA was most reported to affect accessibility or have no effect, which were each detailed by 16 respondents. Accessibility was noted as a concern especially in regard to whether a friend’s house or a location for a social activity would be accessible. Some of the factors that can affect socialization are activity limitations, communication difficulties, and feeling judged or misunderstood.
“Future awareness efforts are needed to combat the stigma that comes with a disability, and the barriers regarding accessibility, to ensure this population fully experiences the best life they possibly can,” wrote the investigators.
Successes and accomplishments were seen across all levels of motor function. Among the young adult respondents, 16 were currently enrolled in a university, 12 were college graduates, and 3 obtained graduate degrees. Some adolescents also reported having good grades. Many respondents emphasized having interests outside of their disease and highlighted future career plans.
Across all ages and motor functions, 33 respondents suggested that a peer support group could be helpful in allowing patients with SMA to share their struggles and connect with one another. One respondent also suggested a buddy support program to give younger patients with SMA an older buddy with SMA to learn from. Eleven respondents also advocated for the creation of college and independent living transition materials.
“Indeed, via this work, we have learned that these individuals have SMA but SMA does not have them,” wrote the investigators.
The investigators noted the low participation of patients with type 1 SMA, who present with the most severe phenotypes, as a study limitation. Additionally, the large number of female patients included make it difficult to conclude that the results represent the entire SMA population.
Mazzela A, Curry M, Belter L, Cruz R, Jarecki J. “I have SMA, SMA doesn’t have me”: a qualitative snapshot into the challenges, successes, and quality of life of adolescents and young adults with SMA. Orphanet J Rare Dis. Published online February 22, 2021. doi:10.1186/s13023-021-01701-y