Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Multicenter Study
. 2023 Aug 11;18(1):242.
doi: 10.1186/s13023-023-02837-9.

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

Stefanie Witt  1 , Katharina Schuett  2 , Silke Wiegand-Grefe  3 , Johannes Boettcher  3 , Julia Quitmann  2   4
Affiliations
Multicenter Study

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

Stefanie Witt et al. Orphanet J Rare Dis. .

Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusion: 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.

Keywords: Parents; Pathway to care; Pediatric patients; Psychosocial care; Qualitative study; Rare chronic health conditions; Rare diseases.

PubMed Disclaimer

Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Interview guideline for parents (questions for children were adapted to more accessible language)
Fig. 2
Fig. 2
Final coding system
See this image and copyright information in PMC

References

    1. Wetterauer B, Schuster R. Seltene Krankheiten: Probleme, stand und Entwicklung der nationalen und europaischen Forschungsforderung. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2008;51(5):519–28. - PubMed
    1. Wissing F, Bruckner-Tuderman L. Forschungsforderung im Bereich seltener Erkrankungen in Deutschland. Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2017;60(5):550–5. - PubMed
    1. Boycott KM, Rath A, Chong JX, Hartley T, Alkuraya FS, Baynam G, et al. International Cooperation to enable the diagnosis of all Rare Genetic Diseases. Am J Hum Genet. 2017;100(5):695–705. - PMC - PubMed
    1. Hoffmann GF, Mundlos C, Dötsch J, Hebestreit H. Seltene Erkrankungen in der Pädiatrie – von der Diagnostik und Behandlung einzelner Erkrankungen zum Aufbau von Netzwerkstrukturen. Monatsschrift Kinderheilkunde. 2020.
    1. Van Oers HA, Haverman L, Limperg PF, Van Dijk-Lokkart EM, Maurice-Stam H, Grootenhuis MA. Anxiety and depression in mothers and fathers of a chronically ill child. Matern Child Health J. 2014;18(8):1993–2002. - PubMed

Publication types