Rare diseases are complex, often affecting multiple body systems and typically posing life-threatening risks (Venugopal & Pavlakis, 2023). According to Wang et al. (2024), “a rare disease is a medical condition with a specific pattern of clinical signs, symptoms, and findings that affects fewer than or equal to 1 in 2,000 persons living in any World Health Organization-defined region of the world” (p. 3). To date, nearly 8000 rare diseases have been identified globally, with an estimated 6–7 million people in Turkey affected by rare diseases (Satman et al., 2019). Additionally, approximately 70–90 % of rare diseases have an onset during childhood (Nguengang Wakap et al., 2020).

Duchenne muscular dystrophy (DMD) is a rare genetic disorder caused by mutations in the dystrophin gene, primarily affecting males due to its recessive inheritance on the X chromosome. It typically appears in early childhood, with diagnosis usually occurring around the age of 4 years (Venugopal & Pavlakis, 2023). International studies report the prevalence of DMD as 15.9 per 100,000 male births in the United States of America and 19.5 per 100,000 male births in the United Kingdom (Birnkrant et al., 2018). While Turkey lacks national patient registry studies or epidemiological data in this area, the prevalence is believed to be similar to that in Europe (Satman et al., 2019). It is estimated that Turkey has approximately 15,000 DMD patients, with 140–150 new cases arising each year (Satman et al., 2019). DMD progresses rapidly, leading to the loss of mobility, scoliosis, and difficulties in hand/arm movements. It can result in heart and respiratory issues, which can be fatal by the second or third decade of life if left untreated (Otto et al., 2017; Venugopal & Pavlakis, 2023).

The typical treatment regimen involves glucocorticoid therapy alongside supportive services such as cardiac care and physical therapy (Duan et al., 2021; McDonald et al., 2018). While notable advancements, including the approval of the first gene therapy for DMD in the United States of America (U.S. Food and Drug Administration, 2024), have been achieved, a definitive cure for DMD remains elusive, requiring ongoing home care for affected individuals (Donnelly et al., 2022). The absence of curative solutions means that parents endure a prolonged and challenging journey, especially since DMD manifests in individuals from a very early age and significantly compromises their quality of life (Makhoul Khoury et al., 2024). The journey of parenting a child with DMD often begins at the time of diagnosis, leading parents into an ongoing cycle of grief while simultaneously making them competent to manage care. They needed to navigate a departure from the typical life course for both themselves and their children while constantly adapting to the uncertainty surrounding their child's future (Donnelly et al., 2022). Parents who took on the role of caregivers experienced lower emotional well-being. For some parents, the care procedures caused anxiety, and they were concerned that inadequate monitoring of ventilation equipment might have contributed to their child's mortality. Socially, parents often felt isolated and experienced a decline in family cohesiveness, which negatively impacted on their overall well-being (Bever et al., 2024). Parents in this situation required support through peer groups, strategies for coping, enhanced tolerance for uncertainty, and assistance in dealing with the non-linear process of grief (Donnelly et al., 2022).

To provide appropriate support to parents of children with DMD, it is crucial to understand their unique experiences, which may not be universally applicable to parents in different cultural settings or countries, mainly due to variations in access to healthcare, social services, and support networks. Most studies on DMD were conducted in English-speaking or European nations (Donnelly et al., 2022), with only one research conducted in Turkey, which primarily focused on the challenges faced by family members in their caregiving journey for DMD patients (Gencer et al., 2022). Therefore, previous research in Turkey is scarce and lacks specific attention to the lived experiences of parents. Due to the early onset and severity of the condition and the central role of parents as caregivers for their children's well-being, it is imperative to conduct an in-depth study that delves into the lived experiences of parents raising children diagnosed with DMD in Turkey. Building upon this, this study aimed to investigate the experiences of parents of children with DMD in Turkey. Such research is crucial for a comprehensive understanding of parents' journeys within the Turkish context.