A mixed method study on the impact of living with spinal muscular atrophy in Malaysia from patients’ and caregivers’ perspectives

BACKGROUND: Spinal Muscular Atrophy (SMA) is a rare, recessively inherited neuromuscular disorder that causes progressive muscle weakness. There is a low degree of awareness about SMA amongst the public and healthcare providers, which may impact the perception of the disease and its proper management. To understand how this lack of awareness may have affected diagnosis, care and support for SMA patients and their caregivers, this study aims to investigate the impact of SMA on the lives and daily activities of SMA patients and their caregivers in Malaysia. METHODS: Nationwide recruitment was carried out via invitations coordinated by a local SMA advocacy organization. A mixed method cross-sectional study consisting of a self-administered questionnaire followed by in-depth interviews (IDIs) and focus group discussions (FGDs) was conducted. The interview sessions were audio-taped, and verbatim transcripts analyzed thematically. RESULTS: Participants reported feeling stressed, anxious and depressed. There were issues with delayed diagnosis, lack of information from healthcare professionals about the disease progression, and limited access to supportive services like physiotherapy. Participants expressed their concerns living with self-doubt and turmoil with having to modify their lifestyles, relationships with family and friends, and challenges with educational and career opportunities. Various themes of their hopes for the future touched on having access to treatment, clinical trials, holistic care for symptom management, as well as improving infrastructure for disability access. CONCLUSION: This study, to the best of our knowledge represents the first comprehensive study on SMA in South East Asia, highlights a plethora of issues and challenges experienced by persons with spinal muscular atrophy (PWSMA) and their caregivers in Malaysia, from the point of SMA diagnosis and throughout the management of care, in addition to the deep psychosocial impact of living with SMA. The significant findings of this study may contribute to a better understanding among stakeholders to make improvements in clinical practice, the education system, the work environment as well as holistic care support and society at large.