Integrating optimal patient-centered care: patient- and family-reported experiences after complex treatment for rare diseases

Abstract Background Although life expectancy after complex treatments for rare diseases during childhood has increased, long-term medical, psychosocial and societal impacts remain for children and their families. Evaluating patient and family experiences is essential for the development and optimization of integrated patient-centered, value-based care pathways. This study aims to evaluate patient- and family-reported experiences across three follow-up care pathways for complex treatment of rare diseases. Methods This cross-sectional study was conducted among patients/families in follow-up care after (1) fetal and/or neonatal intensive care treatment; (2) pediatric hematopoietic stem cell transplantation for non-malignant conditions; and (3) cardiac intervention for congenital heart disease. A combination of validated patient-reported experience measures (PREMs) was used to capture experiences with complete integrated care pathways regarding information provision, integrated care collaboration, communication and comprehensive care. Descriptive statistics were used to analyze quantitative ratings, whereas free-text responses were analyzed using thematic analysis. Results Between April 2024 and June 2025, 70 families completed the PREMs. Likert-scale ratings, as well as an analysis of 286 free-text responses, revealed positive evaluations of relationship building, the humanistic approach and communication across all pathways. The identified areas of improvement varied across care pathways and included comprehensive (long-term) information provision and screening and support for the psychosocial impact on patients as well as their families. Conclusion Through shared learning across care pathways, insights from patient and family experiences guide patient- and family-centered, value-based care pathway optimization to ultimately improve outcomes and quality of life for children and their families.