Understanding the experience of living with spinal muscular atrophy: a qualitative description

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by the progressive degeneration of motor neurons in the spinal cord. The disorder causes weakness and wasting of voluntary muscles. The purpose of this study was to describe the experience of living with SMA. Strategies used to manage symptoms and progression were also identified. Through e-mail communication, 11 participants were asked to respond to 5 questions about experiences with parents, family, friends, school, and healthcare providers, as well as provide demographic information. Participants were asked to describe their illness and the strategies used to optimize management. Data were analyzed in an ongoing manner through a constant comparative method. The experience of living with SMA was described as challenging and constantly changing. Four major themes were generated that described the experience of living with SMA: establishing strong relationships, normalizing and mainstreaming in society, using an innovative approach to symptom management, and maintaining optimism. Participants described both physical and emotional strategies for symptom management.