Charlotte Handberg, PhD, Senior Researcher at the National Rehabilitation Center for Neuromuscular Diseases in Denmark, and Associate Professor at Aarhus University, discusses results from a survey of parents’ hopes, worries, and needs for their children with spinal muscular atrophy (SMA).
SMA is a group of genetic neuromuscular disorders due to mutations along the SMN1 gene. The net result is atrophy of motor neurons that causes progressive muscle weakness and loss of movement. SMA mainly affects the muscles involved in walking, sitting, arm movement, and head control. Breathing and swallowing may also become difficult as the disease progresses. SMA type 1, 2, 3, and 4 relate to the severity of the condition and are linked to genetic changes in the SMN1 gene as well as the number of copies of the nearby related gene, SMN2. There are other rarer types of SMA caused by changes in different genes.
Survey Results
A survey was conducted examining parents’ experiences of hopes and worries relating to disease progression and treatment options. Parents’ need for information, advice, and rehabilitation initiatives was also explored. 26 parents of 20 children with SMA participated in this study.
The first theme found in the initial analysis was how parents were affected by an SMA diagnosis. Factors involved included trajectory toward diagnosis, hope related to medical treatments, and grief caused by uncertainty. Following a diagnosis, the availability of treatments gave parents hope that their children could live a “normal” life and acceptance of the unexpected situation they were experiencing. However, concerns about the possibility of dependency were still significant. In regard to support, families struggled with management of daily life, in turn affecting their social life. Additionally, parents stressed the need for balanced support and counseling, as well as older role models to look up to.
From these themes of parents’ experiences, professionals should focus on providing support to families who are adjusting to their new life with an SMA diagnosis and medical treatment. Support and counseling should be balanced as to cater to family’s hopes, needs, and want for information in rehabilitation services.
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To learn more about SMA and other rare musculoskeletal disorders, visit https://checkrare.com/diseases/musculoskeletal-diseases/