Quality of life among children and young adults with rare diseases. A parental perspective.

Globally the number of children and adolescents living with a rare disease is increasing due to improved periconceptional care, advances in diagnostics and treatments. This exploratory study aimed to examine parents' perceptions of the quality of life of children with rare diseases. The results will provide important insights to healthcare professionals who aim to offer child-centered and family-oriented care. Participating parents were recruited via the knowledge network for children with rare diseases (KMSK). Qualitative data from an open-ended survey question on parents' perceptions of children's quality of life was analyzed using content analysis. Data collection took place from January-June 2023. The study included 108 primary caregivers of children with rare diseases. Five categories of parental perceptions of children's quality of life were identified: (1) pain-free living & joy; (2) partaking in everyday life; (3) the quest for integration: desire for normality & appreciation of difference; (4) obtaining developmental milestones and (5) having access to individualized child- and family-centered care.Conclusions: In addition to positive health outcomes, social integration, respect for diverse developmental paths and holistic healthcare services were reported as essential to quality of life. Healthcare professionals should be aware that parents may worry about stigma and address these concerns thoughtfully. It is also important to ensure that parents feel their knowledge and experiences are valued, and to support families in building confidence in their decisions, as part of a personalized, child- and family-centered approach.