Living with a rare disease - experiences and needs in pediatric patients and their parents

TL;DR

This study explores the daily challenges and needs of children with rare diseases and their families, highlighting the importance of better psychosocial support and healthcare access.

Contribution

The study identifies specific psychosocial and systemic barriers faced by families of children with rare diseases and proposes targeted support strategies.

Findings

Rare diseases significantly impact the daily life and mental well-being of patients and their families.

Families often lack information and access to psychosocial care services, leading to stress and helplessness.

Participants emphasized the need for timely, preventive support and better education about available psychosocial resources.

Abstract

A rare disease (RD) diagnosis and therapy can affect the family’s quality of life and mental health. A lack of information and missing care options lead to helplessness and psychological stress within families. This work aims to identify patients’ and parents’ experiences in daily life and with the health care system as well as their needs and current pathways to psychosocial care to develop implementation strategies adapted to the families’ needs.

The present analysis is part of the national multicenter study “Children Affected by Rare Disease and Their Families-Network (CARE-FAM-NET).“ We conducted semi-structured telephone interviews with children, adolescents, and young adults with RD (aged 12 to 21 years) and parents of children with RD (aged 0 to 17 years). We analyzed the transcribed and anonymized interviews using the method of focused interview analyses to identify previous experiences with medical and psychosocial care and possible needs for improvement and support.

Seventy-four parents of children with RD and 15 children, adolescents, and young adults with RD participated. Five main themes emerged. Daily life with an RD: RD affects the everyday and social life of the respondents, negatively impacting mental well-being. Experiences with the health care system: The long diagnostic path is stressful for families. Professionals’ lack of information/education leads to inadequate care for those affected. Psychosocial support: Families do not know about psychosocial care services. In some cases, the families take advantage of psychosocial support services (such as support groups or advocacy groups), which are predominantly very helpful. Difficulties and barriers: Time, socio-legal and organizational problems burden families and lead to advantages in using psychosocial services. Improvements for patient-oriented support: Those affected wished for timely, preventive support (especially in administrative and socio-legal matters) and education regarding psychosocial care services.

RD represent a great challenge for all family members – patients, parents, and siblings. The patients’ and parents’ previous experiences in daily life, medical and psychosocial care show a need for target-group specific support, including training of health care professionals and low-threshold access care services and practical help for all family members.

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