“Getting ready for the adult world”: how adults with spinal muscular atrophy perceive and experience healthcare, transition and well-being

Abstract

Background Spinal muscular atrophy (SMA) has profound implications across a lifetime for people with the condition and their families. Those affected need long-term multidisciplinary medical and supportive care to maintain functional mobility, independence and quality of life. Little is known about how adults with SMA experience healthcare, or the components of care perceived as important in promoting well-being. The purpose of this study was to use qualitative research methodology to explore the lived experiences of healthcare and wellbeing of adults with SMA. Purposive sampling was used to recruit adolescents and adults with SMA, their parents and partners. Face-to-face or telephone-based semi-structured interviews were recorded and analysed using inductive thematic analysis. Results Across a total of 25 interviews (19 people with SMA, 5 parents, 1 partner) many participants described disengagement from health services and major gaps in care throughout adulthood. Disengagement was attributed to the perceived low value of care, as well as pragmatic, financial and social barriers to navigating the complex healthcare system and accessing disability services. Adults with SMA valued healthcare services that set collaborative goals, and resources with a positive impact on their quality of life. Mental health care was highlighted as a major unmet need, particularly during times of fear and frustration in response to loss of function, social isolation, stigma, and questions of self-worth. Alongside this, participants reported resilience and pride in their coping approaches, particularly when supported by informal networks of family, friends and peers with SMA. Conclusions These findings provide insight into the lived experiences, values and perspectives of adults with SMA and their carers, revealing major, ongoing unmet healthcare needs, despite many realising meaningful and productive lives. Findings indicate the necessity of accessible, patient- and family-centered multidisciplinary care clinics that address currently unmet physical and mental health needs. Understanding the lived experiences of people with SMA, particularly during times of transition, is critical to advancing health policy, practice and research. Future studies are needed to quantify the prevalence, burden and impact of mental health needs whilst also exploring potential supportive and therapeutic strategies. Electronic supplementary material The online version of this article (10.1186/s13023-019-1052-2) contains supplementary material, which is available to authorized users.

“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

“…In an SMA Australia study composed of 25 interviews with SMA affected young adults and adults, reliance on others for care, support and assistance was considered a vital but persistent challenge (Wan et al, 2019). In the same study, interviewees paralleled video contest participants in citing issues surrounding the stigma of wheelchairs and being perceived as disabled (Wan et al, 2019). Interestingly, the speci c psychosocial and developmental challenges observed in our research are like the larger adolescent and young adult populations.…”

“…When breaking our population into cohorts of adolescents (ages 12-18) and young adults (ages [19][20][21][22][23][24][25], it is evident that certain themes are most relevant to certain age groups versus others (see Supplemental Tables II, IV, VI, and VIII). Statistically signi cant results were found in Questions 1, 2 and 4 with respect to differing priorities.…”

“…Although mental health was not the most frequent factor in any supplement category, the impact of SMA on mental health can be severe (Rounault et al, 2017; Cruz et al, 2018, Wan et al, 2019, Wan et al, 2020. Across the four supplement questions, mental health was discussed by twelve different participants.…”

“…Although the speci c challenges surrounding schooling and socialization are vastly different, common themes can be identi ed in various publications, such as dependence or social isolation. In an SMA Australia study composed of 25 interviews with SMA affected young adults and adults, reliance on others for care, support and assistance was considered a vital but persistent challenge (Wan et al, 2019). In the same study, interviewees paralleled video contest participants in citing issues surrounding the stigma of wheelchairs and being perceived as disabled (Wan et al, 2019).…”

“…To our knowledge, this study is the rst to capture quality-of-life information among adolescents and young adults, directly from the affected individuals via these means. In our target population of individuals ages 12-25, the adolescent perspective (ages 12-18) is typically captured via caregiver proxy in studies along with that of young children, while the young adult perspective is captured along with that of adults at very different time points in life (Qian et al, 2015;Mongiovi et al, 2018;Renault, 2017;Cruz et al, 2018;Wan et al, 2019;Wan et al, 2020). It is therefore necessary to further understand the needs of this community and better de ne what this population considers to be factors of most importance in improving their quality-of-life.…”