Understanding family experiences and improving psychosocial support in rare diseases

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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).

Key Findings

The study yielded 5 main themes that illuminate the challenges and needs of families dealing with RDs:

  1. 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.
  2. 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.
  3. 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.
  4. 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.
  5. 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.