ABSTRACTBackground Rare diseases present significant healthcare challenges, burdening families considerably. Parents of affected children often face psychological distress, social isolation, and financial strain. This study explores the life experiences, psychological impacts, and coping strategies of parents of children with rare diseases in Malaysia. Methods A qualitative phenomenological approach was applied. Participants were recruited from the Malaysia Rare Disorders Society and could communicate in English or Malay. Data was collected through semi-structured interviews and the Depression Anxiety and Stress Scale (DASS-21) to assess emotional distress. The interviews were conducted online, ensuring confidentiality and reducing emotional distress. Qualitative data were thematically analysed using NVivo 15, while quantitative data were analysed descriptively using SPSS version 27. Results A total of 20 participants were interviewed, with 20% reporting moderate depression, 40% experiencing anxiety ranging from mild to moderate, and 30% experiencing mild to severe stress. Key themes identified regarding the parents' experiences included emotional impacts (shock, distress, fear, anxiety, grief, loss, overwhelm, exhaustion), life experiences (shifted priorities, strained family relationships, social isolation, stigma, healthcare challenges, caregiving demands), and coping mechanisms (seeking information/support, emotional regulation, positive reframing, advocacy, spiritual/religious comfort). Conclusion Parents experienced significant psychological distress, including depression, anxiety, and stress. They employ various coping strategies to manage the stresses of caring for their child. There is a need for targeted emotional support, increased public awareness to reduce stigma, and improved healthcare systems that provide accessible and coordinated care for affected families.
Shukor et al. (Sun,) studied this question.