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
. 2022 Jun 18;17(1):233.
doi: 10.1186/s13023-022-02358-x.

The diagnostic odyssey: insights from parents of children living with an undiagnosed condition

Alicia Bauskis  1 , Cecily Strange  2 , Caron Molster  3 , Colleen Fisher  2
Affiliations

The diagnostic odyssey: insights from parents of children living with an undiagnosed condition

Alicia Bauskis et al. Orphanet J Rare Dis. .

Abstract

Background: People living with rare disease often have protracted journeys towards diagnosis. In the last decade, programs have arisen around the world that are dedicated to ending this 'diagnostic odyssey', including the Undiagnosed Diseases Program Western Australia (UDP-WA), which has a focus on finding diagnoses for children and young adults. To explore the lived experience of the diagnostic journey semi-structured interviews were conducted with parents of 11 children at commencement of their involvement in the UDP-WA.

Results: Thematic analysis revealed three main themes that captured parents' experiences and perspectives. Parents reported (i) the need to respond to significant care needs of their children, which span not only the health system but other systems such as education and disability services. In doing so, parents become the navigator, expert and advocate for their children. Meanwhile, parents are on (ii) the diagnostic odyssey-the rollercoaster of their journey towards diagnosis, which includes various names applied to their child's condition, and the impact of no diagnosis. Parents described their views on (iii) the value of a diagnosis and the outcomes they expect to be associated with a diagnosis.

Conclusion: Analysis showed an overall significant perceived value of a diagnosis. Our study provides new perspectives on the concept of diagnosis and indicates that parents may benefit from supports for their child's care needs that are beyond the scope of the UDP-WA.

Keywords: Complex care; Diagnosis; Diagnostic odyssey; Illness experiences; Rare diseases; Undiagnosed diseases; Value of diagnosis.

PubMed Disclaimer

Conflict of interest statement

AB & CM work at the Office of Population Health Genomics, Western Australia Department of Health, which provided seed funding for the UDP-WA. AB & CM have not been involved in the ongoing funding and management of the program and consequently do not have a conflict of interest to declare.

Figures

Fig. 1
Fig. 1
Thematic Map: Experiences of parents with a child who has an undiagnosed condition at the point of commencement with the UDP-WA
See this image and copyright information in PMC

References

    1. Blaxter M. Diagnosis as category and process: the case of alcoholism. Soc Sci Med. 1978 doi: 10.1016/0271-7123(78)90017-2. - DOI
    1. Jutel A, Nettleton S. Towards a sociology of diagnosis: reflections and opportunities. Soc Sci Med. 2011 doi: 10.1016/j.socscimed.2011.07.014. - DOI - PubMed
    1. EURORDIS. What is a rare disease? https://www.eurordis.org/content/what-rare-disease. Accessed 20 Dec 2021.
    1. Nguengang Wakap S, Lambert DM, Olry A, Rodwell C, Gueydan C, Lanneau V, Murphy D, Le Cam Y, Rath A. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Med Genet. 2020 doi: 10.1038/s41431-019-0508-0. - DOI - PMC - PubMed
    1. Molster C, Urwin D, Di Pietro L, Fookes M, Petrie D, van der Laan S, Dawkins H. Survey of healthcare experiences of Australia adults living with rare diseases. Orphanet J Rare Dis. 2016 doi: 10.1186/s13023-016-0409-z. - DOI - PMC - PubMed

Publication types

Substances