Series
The 5th ELSI Congress - ELSIcon2022
ELSIcon2022 Flash: Reconstruction of Normality Following the Diagnosis of Ehlers Danlos Syndromes
Type
Conference
ELSIcon2022 • Flash • May 27, 2022
Hannah Mundinger, Kimberly Kaphingst, Allison Blumling
Background:
The Ehlers Danlos Syndromes (EDS) are a constellation of rare heritable connective tissue disorders involving a variety of collagen mutations. Early diagnosis is essential for condition management. However, those with EDS often experience significant diagnostic delay. A dearth of research and limited access to medical providers specializing in EDS protracts diagnostic time. This analysis examines the impact of receiving a diagnosis on individuals’ understanding of self and construction of normality.
Methods:
Thirty qualitative semi-structured interviews were conducted with data collection ceasing upon saturation. Recruitment of adults with diagnosed or suspected EDS occurred through a regional EDS support group. Interview questions were structured into three time frames related to the diagnostic odyssey: before, during, and after diagnosis. Data are being assessed inductively through constant comparison analysis.
Results:
Findings to date indicate that the ability to attribute symptoms to a condition name, whether through genetic diagnosis, physician diagnosis by phenotype, or participant self-assessment, and not disease presence elicits a spectrum of biographical disturbances. These disturbances range from biographical disruption to biographical continuity and are grounded within the construct of normality. The frequently delayed diagnosis of EDS forces individuals to navigate and restructure present and past constructs of normality.
Discussion:
Little is known on how the delayed diagnosis of rare genetic disorders within the adult population impacts individuals’ understanding of self and psychological health. For those with EDS, quicker diagnosis is essential for mitigating physiological and psychological harm. This study illuminates a connection between diagnostic delay and psychological outcomes.
Tags
Keywords
Lived experience of genetic conditions
Patient-provider communication
Flash
Pre-Recorded
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 12
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 17
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Socioeconomic Status and Interest in Pursuing Genetic Testing for Hereditary Cancer in a US Based Population
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 15
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Fresh Air for Genetic Data Sharing
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Public Engagement in Governance of Human Genome Editing in the Post-He Jiankui Era
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Consumers’ Perspectives Following Direct-to-Consumer Genetic Testing for Cancer Risk
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Flash Session 2
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Incorporating Patient and Relative Preferences in the Design of Traceback Cascade Testing Initiatives
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Patients’ expectations of benefits from large-panel genomic tumor testing in rural community oncology practices
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Moderated Plenary Panel
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Consumer Willingness to Share Personal Digital Information for Health-Related Uses
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Ensuring equity through insurance coverage for whole exome sequencing and reanalysis
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 14
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Reproductive Concerns of Disabled Women: Whose Definitions of Disability are We Embracing?
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: Engaging Adolescents in Genomic Decision Making
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Facilitators and barriers to ethical machine learning in healthcare: A qualitative study on developer perspectives of potential harms
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 13
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 11
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 10
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022: Paper Session 9
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Networking Session: Late-Breaking Abstracts, June 2, 2022
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Flash: What Led to the Abolition of Iowa’s State Eugenics Program in 1977?
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The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Symbolic Legislation and the Regulation of Stroke Biobanking and Genomics Research in Sub-Saharan Africa
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Genetic Options and Constraints: How Genetic Ancestry Tests Change Ethnic Identities
The 5th ELSI Congress - ELSIcon2022 - ELSIcon2022 Paper: Race-Based Genetic Testing: Learning from Black Americans to Inform Policy and Practice
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