Understanding family experiences and improving psychosocial support in rare diseases
Rare diseases present a unique set of challenges that extend beyond the patients themselves, affecting families on multiple levels, according to a study that underscores the significance of addressing these challenges through targeted and holistic support.
The diagnosis and management of RDs can lead to a considerable decline in the quality of life and mental well-being of affected families. A lack of information, limited care options, and prolonged diagnostic journeys can leave families feeling helpless and stressed. In response to these challenges, a study titled “Children Affected by Rare Disease and Their Families-Network (CARE-FAM-NET)” was undertaken, aiming to shed light on the experiences of families dealing with RDs and identify pathways for enhancing psychosocial care.
The CARE-FAM-NET study conducted semi-structured telephone interviews with 2 groups: children, adolescents, and young adults (aged 12 to 21) diagnosed with RDs, and parents of children with RDs (aged 0 to 17).
The study yielded 5 main themes that illuminate the challenges and needs of families dealing with RDs:
- Daily Life Impact: The findings highlighted that RDs significantly disrupt everyday routines and social interactions, contributing to a negative impact on the mental well-being of patients and their families.
- Healthcare System Struggles: The diagnostic journey for RDs is often a lengthy and arduous process, causing immense stress to families. Additionally, the lack of information and education among healthcare professionals results in suboptimal care for those affected.
- Importance of Psychosocial Support: Families are largely unaware of available psychosocial care services. Nevertheless, those who access such support, including support groups and advocacy groups, report these services as highly beneficial.
- Barriers and Difficulties: Families face multifaceted challenges, including time constraints, socio-legal issues, and organizational problems. These barriers underscore the importance of psychosocial services that offer practical assistance.
- Improving Patient-Centric Support: The study participants expressed a desire for timely and preventive support, particularly in areas such as administrative and socio-legal matters. Education about available psychosocial care services was also identified as a key need.
Witt S, Schuett K, Wiegand-Grefe S, et al. Living with a rare disease – experiences and needs in pediatric patients and their parents. Orphanet J Rare Dis. 2023;18(1):242. doi: 10.1186/s13023-023-02837-9. PMID: 37568186; PMCID: PMC10422846.