“I have SMA, SMA doesn’t have me”- A Qualitative Snapshot Into the Challenges, Successes, and Quality of Life of Sma Adolescents and Young Adults

Abstract

Background: With the approval of two treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this cohort as it exists today to provide optimal care and resources, as well as to assess possible treatment effects over time. In 2018, Cure SMA launched two initiatives geared towards understanding adolescents and young adults with SMA, ages 12-25. First, Cure SMA launched a clinical meaningfulness survey to capture information, quantitatively and qualitatively, on the quality-of-life of this population. Concurrently, Cure SMA invited SMA-affected individuals, ages 12-25, to create a three-minute video on their everyday experiences living with SMA. An inductive thematic analysis of the open-ended section in the survey along with the video contest findings are reported here.Results: Eighty-five individuals — 6 type Is, 58 type IIs, and 21 type IIIs — completed the open-ended section of the survey, while six individuals, mostly type II, participated in the SMA awareness video contest. In both settings, individuals detailed a wide variety of challenges, including but not limited to forming or maintaining close relationships, feelings of isolation, challenges with accessibility, independence, and dealing with the stigma of being perceived as mentally disabled. Individuals also discussed their successes, including but not limited to higher education enrollment and attendance, development of quality friendships, and perseverance through obstacles. Additionally, in the survey, an overwhelming number of respondents (39%) requested the creation of an SMA peer support group in efforts to connect with each other as well as collectively navigate the aforementioned challenges they face. Conclusion: Together, these findings provide a rare glimpse into the unique mindsets, challenges and motivations of SMA adolescents and young adults, via patient-reported measures instead of caregiver proxy. The adolescent and young adult age demographics assessed represent a critical transition period in life and in SMA care. No one understands the needs of an adolescent or young adult with SMA better than the individuals themselves, and it is critical to capture their insights in order to affect change.

Assessing perspectives of disease burden and clinically meaningful changes using the Spinal Muscular Atrophy Health Index in adolescents and young adults

“…The findings of this survey supplement are discussed in a separate publication. 11 Based on an expected response rate of about 20%, the authors anticipated approximately 80 responses that would elicit a 95% confidence level and a 9.8% margin of error.…”

Investigating attitudes toward prenatal diagnosis and fetal therapy for spinal muscular atrophy

“…32,52 Some patients with SMA are concerned that portraying SMA as a disease to be "eradicated" with novel drugs may engender negative views toward SMA and disability, or that drug development may come at a cost for everyday interventions (such as vans or wheelchairs) that significantly impact adult patients. 52 While adults with late-onset SMA do struggle with physical impairments and access to a diverse array of healthcare needs, many patients lead meaningful and productive lives 53,54 and the benefits of prenatal gene therapy may not appear to outweigh the risks. Ultimately, patients' decisionmaking regarding prenatal therapy will be affected by the same factors regarding postnatal treatment, such as cost, risk factors, available information, side effects, insurance coverage, time constraints, access to clinical sites, functional status, and disability identity.…”

Anxiety and depression in school-age patients with spinal muscular atrophy: a cross-sectional study

“…A series of 25 interviews conducted with SMA adults in Australia highlighted the challenges in mental health that need to be met [18]. Mazzella et al found that SMA patients reported their mental health, including anxiety and depression, to be significantly affected by disease [19].…”