Michelle A Farrar1,2, Kate A Carey3, Sarah-Grace Paguinto3, Nadine A Kasparian4,5, Richard De Abreu Lourenço6. 1. Discipline of Paediatrics, School of Women's and Children's Health and Sydney Children's Hospital, UNSW Medicine, The University of New South Wales Sydney, High Street Randwick, Sydney, NSW, 2031, Australia. m.farrar@unsw.edu.au. 2. Department of Neurology, Sydney Children's Hospital Randwick, Sydney, NSW, 2031, Australia. m.farrar@unsw.edu.au. 3. Discipline of Paediatrics, School of Women's and Children's Health and Sydney Children's Hospital, UNSW Medicine, The University of New South Wales Sydney, High Street Randwick, Sydney, NSW, 2031, Australia. 4. Harvard Medical School, Harvard University, Boston, MA, USA. 5. Department of Cardiology, Boston Children's Hospital, Boston, MA, USA. 6. Centre for Health Economics Research and Evaluation, University of Technology Sydney, Sydney, Australia.
Abstract
INTRODUCTION: The natural history and treatment of spinal muscular atrophy (SMA) is currently being transformed by the development and availability of novel therapies, with significant related changes in practice. This not only has important implications for the health and wellbeing of patients with SMA and their families, as well as improves the quality of care. OBJECTIVE: The present study aimed to investigate the processes and factors that influence treatment and healthcare decisions for children and adults with SMA and their families and healthcare providers. METHODS: Four focus groups comprising adults, or parents of children and adolescents, with SMA and an expert panel of healthcare providers (N = 25) explored experiences of SMA, its treatment and related decision making and expectations for future care. Group discussions were recorded and transcribed verbatim for thematic analysis using NVivo12.0. RESULTS: People with SMA, their families and healthcare providers described confronting complex healthcare decisions in the context of a rapidly changing SMA treatment environment. Across all groups, five key themes were identified: hope, yearning and searching, patient-centred care and support, community and a sense of connectedness and weighing up potential treatment benefits and costs. Essential to these themes was the notion of what it means to live with SMA and complexities relating to 'quality of life'. CONCLUSION: Identifying and more deeply understanding the factors that influence patient, family and healthcare providers' decision making regarding SMA treatment is an important first step in improving the quality of patient- and family-centred care and in informing clinical practice and future health policy incorporating personalized medicine and optimal supportive and mental health care.
INTRODUCTION: The natural history and treatment of spinal muscular atrophy (SMA) is currently being transformed by the development and availability of novel therapies, with significant related changes in practice. This not only has important implications for the health and wellbeing of patients with SMA and their families, as well as improves the quality of care. OBJECTIVE: The present study aimed to investigate the processes and factors that influence treatment and healthcare decisions for children and adults with SMA and their families and healthcare providers. METHODS: Four focus groups comprising adults, or parents of children and adolescents, with SMA and an expert panel of healthcare providers (N = 25) explored experiences of SMA, its treatment and related decision making and expectations for future care. Group discussions were recorded and transcribed verbatim for thematic analysis using NVivo12.0. RESULTS:People with SMA, their families and healthcare providers described confronting complex healthcare decisions in the context of a rapidly changing SMA treatment environment. Across all groups, five key themes were identified: hope, yearning and searching, patient-centred care and support, community and a sense of connectedness and weighing up potential treatment benefits and costs. Essential to these themes was the notion of what it means to live with SMA and complexities relating to 'quality of life'. CONCLUSION: Identifying and more deeply understanding the factors that influence patient, family and healthcare providers' decision making regarding SMA treatment is an important first step in improving the quality of patient- and family-centred care and in informing clinical practice and future health policy incorporating personalized medicine and optimal supportive and mental health care.