Skip to main content
The 5th ELSI Congress - ELSIcon2022

ELSIcon2022 Flash: Reconstruction of Normality Following the Diagnosis of Ehlers Danlos Syndromes


ELSIcon2022 • Flash • May 27, 2022

Hannah Mundinger, Kimberly Kaphingst, Allison Blumling

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. 
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.  
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.
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.


Lived experience of genetic conditions
Patient-provider communication

Videos in Series

Related Videos