ArticleOrphanet journal of rare diseases2022
The diagnostic odyssey: insights from parents of children living with an undiagnosed condition.
Article in Orphanet journal of rare diseases, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 91 papers, 3 of them syntheses that pooled it.
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Who cites it
91 citing papers in PubMed, 3 syntheses or guidelines pooled it.
- The Diagnostic Yield of Investigating Developmental Regression in Children: A Systematic Review and Meta-Analysis.Journal of autism and developmental disorders · 2026Pooled it
- Recommendations for the diagnosis and management of cln3 disease (batten disease) using the Delphi consensus methodology.Orphanet journal of rare diseases · 2026Guideline
- Capturing Real-World Rare Disease Patient Journeys: Are Current Methodologies Sufficient for Informed Healthcare Decisions?Journal of evaluation in clinical practice · 2025Pooled it
- When screening and diagnosis converge: participant interpretations of additional findings in the 100,000 genomes project.European journal of human genetics : EJHG · 2026Article
- Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.European journal of human genetics : EJHG · 2026Article
- Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval.Clinical genetics · 2026Article
- Rare diseases in Brazil: a nationwide analysis of the diagnostic odyssey.Journal of community genetics · 2026Article
- Parents' experiences of diagnosis and specialist care of children's rare birthmarks.British journal of health psychology · 2026Article
- Diagnostic delay, care needs, and trust in healthcare among persons with rare disease and their next of kin living in Sweden.Journal of community genetics · 2026Article
- Multimodal integrated knowledge transfer to large language models through preference optimization with biomedical applications.Patterns (New York, N.Y.) · 2026Article
- Exploration of the relationships between health literacy and experience of care integration in parents of children with special healthcare needs: a cross-sectional study.BMC health services research · 2026Article
- RESCUE: An end-to-end multi-agent LLM system for proactive rare-disease patient screening in the EHR.medRxiv : the preprint server for health sciences · 2026Article
- The social construction of the "good doctor": Expectations of physicians among adults with NF1.Journal of community genetics · 2026Article
- Reducing the diagnostic odyssey in rare disease: why screening is not the only answer.Nature medicine · 2026Article
- Implementation of a medical genomics program for rare diseases in Uruguay.Orphanet journal of rare diseases · 2026Article
- Main Recommendations for Developing Education and Awareness Strategies for Rare Diseases: Scoping Review.JMIR medical education · 2026Article
- "Let it be as it is": between shock and acceptance - emotional, identity, and cognitive responses to the diagnosis of neurofibromatosis type1.Orphanet journal of rare diseases · 2026Article
- Rare-Disease Diagnosis on the ZebraMap Multimodal Case Report Dataset: A Hybrid Pipeline with Grounded Explainability.Sensors (Basel, Switzerland) · 2026Article
- The expected utility and psychological impacts of exome sequencing results in the DDD-Africa study.Journal of genetic counseling · 2026Article
- Automating genomic reanalysis: perspectives of people living with, or impacted by, a genetic, rare or undiagnosed condition.BMC medical ethics · 2026Article
31 more citing papers are in PubMed but not listed here.
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4 authors.
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Abstract
backgroundPeople 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.
resultsThematic 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.
conclusionAnalysis 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.
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