Experiences of families with children diagnosed with spinal muscular atrophy: A qualitative study

This study is aimed to undertake a fqualitative investigation into the lives of families with children diagnosed with Spinal Muscular Atrophy in Türkiye.

A qualitative exploratory-descriptive design was employed. Thirteen parents of children diagnosed with Spinal Muscular Atrophy were recruited through maximal variation purposive sampling, and data saturation guided sample size. Semi-structured interviews were conducted via telephone or online platforms between November 2022 and April 2023. Data were analyzed using thematic analysis approach and reported in accordance with the COREQ checklist.

Thematic analysis of interview data revealed four main themes: uncertainty and emotional distress during the diagnosis process; the burden of daily care, particularly concentrated on parents; economic hardship; and access to treatment; coping strategies with social support from family and others with similar experiences; and uncertainty about the future, anxiety, and the search for hope shaped by fundraising campaigns.

Parents of children diagnosed with Spinal Muscular Atrophy encounter considerable psychological, social and economic challenges in caring for their offspring. It is imperative that future research draws on a broader and more geographically diverse sample to translate these results into actionable, context-sensitive strategies for families and the professionals who support them.

It is imperative that paediatric nurses adopt a family-centred and empathic communication approach throughout the diagnostic process. In addition, they are required to provide psychosocial support to caregivers and facilitate access to home care, education, and counselling services.