Patient Experiences, Needs Identified in Children With Rare Disease and Their Caregivers

Providing target group–specific support, training health care professionals, and ensuring access to care services are crucial in improving experiences in daily life for pediatric patients living with rare disease, as well as their caregivers, according to a recent study.

Researchers aimed to identify patient experiences with rare disease in daily life and within the health care system to better understand their needs and implement support strategies to improve feelings of helplessness and stress among families. This national multicenter analysis study conducted in Germany was published in the Orphanet Journal of Rare Diseases.

“Rare diseases pose significant challenges to affected individuals and their families, often leading to a wide range of daily life changes,” wrote the researchers of the study. “These necessary changes can profoundly affect various aspects of family dynamics, including emotional well-being, financial stability, social interactions, and overall HRQOL [health-related quality of life].”

There are many factors that make diagnosis and treatment of rare disease difficult, including mental health and aspects of HRQOL, which can be influenced by factors such as age and gender of a child, severity level of the disease, and social environment. These factors play into a burden of children, adolescents, and young adults with rare disease often feeling worried and fearful about their future.

The study is part of the national multicenter study “Children Affected by Rare Disease and Their Families-Network,” which aims to improve and provide psychosocial care for children, adolescents, and young adults with rare disease and their family members in Germany.

In addition to the study, the researchers conducted telephone interviews with patients aged 8 to 21 years and parents of pediatric patients aged 0 to 17 years. The interview aimed to obtain qualitative information about the patient, including the family’s journey through the health care system, daily living with rare disease, and knowledge and use of psychosocial care.

A total of 80 parents were recruited for the study, of whom 4 could not be reached by telephone and 2 had children older than 17 years, resulting in 74 participants. Most (47%) of the parental interviews were conducted with parents of children aged 0 to 4 years and 7 parental interviews were conducted with those of children aged 13 to 17 years. Additionally, 15 telephone interviews with children were conducted.

Among the 74 parents and 15 children, the researchers observed 5 main themes of living with rare disease:

• Rare disease affects the everyday and social life of respondents, negatively impacting their mental health.
• The long diagnostic path creates a stressful experience for families regarding the health care system.
• Families are not aware of psychosocial care available to them.
• Time, sociolegal, and organizational problems are burdens that families experience in psychosocial services.
• Those affected want timely, preventive support, especially pertaining to administrative and sociolegal matters, as well as education regarding these services.

The researchers acknowledged some limitations to the study, including that a target sample could not be reached for all age groups and that the interviews with patients with rare disease did not reach the planned case number of 30 individuals.

Despite limitations, the researchers believe the study highlights the experiences of children, adolescents, and young adults with rare disease and their families. Furthermore, the study offers insight into target-specific areas of support to improve access and implementation of these services to individuals whose daily lives are impacted by rare disease.

Reference

Witt S, Schuett K, Wiegand-Grefe S, Boettcher J, Quitmann J. 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