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Parents of children with rare diseases define quality of life beyond medical outcomes, emphasizing pain-free living, social integration, developmental progress, and individualized family-centered care.
The number of kids and adolescents living with rare diseases is on the rise worldwide, a trend attributed to up-graded periconceptional care, innovations in diagnostics, and better treatment options. While these medical breakthroughs have extended life expectancy and improved health outcomes, a new study issued in the "European Journal of Pediatrics" has turned the spotlight on an equally important aspect: how parents perceive their children’s quality of life.
The exploratory research, conducted by Eva De Clercq, gathered responses from 108 primary caregivers of children with rare conditions. Volunteers were enrolled through the Knowledge Network for Children with Rare Diseases. Using qualitative content analysis of open-ended survey responses, the study aimed to better comprehend how families evaluate well-being beyond medical outcomes.
In total, 5 overarching themes emerged from parents’ accounts:
1. Pain-free living and joy – Parents emphasized that freedom from pain and the ability to experience happiness are fundamental to their children’s quality of life.
2. Participation in everyday life – Engaging in normal routines, activities, and social interactions was seen as vital.
3. Integration and acceptance – Families expressed a dual wish: striving for normality while also appreciating the uniqueness of their children, with concerns about stigma surfacing as a critical issue.
4. Reaching developmental milestones – Progress in physical, cognitive, and social development was closely related to parental perceptions of well-being.
5. Access to individualized care – Parents strongly valued child- and family-centered healthcare, highlighting the importance of tailored support.
The study concluded that parents view quality of life in broad terms, encompassing not only health but also social inclusion, respect for diverse developmental trajectories, and holistic support systems. Hence, healthcare professionals must be mindful of parental concerns about stigma, ensure families’ expertise is recognized, and work collaboratively to build supportive networks. As the global population of children with rare diseases continues to grow, these insights underline the need for medical care that extends beyond treatment to embrace family values, social integration, and emotional well-being.
European Journal of Pediatrics
Quality of life among children and young adults with rare diseases. A parental perspective
Eva De Clercq et al.
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