Dissertation

The Experience and Management of Medical Uncertainty in Telomere Biology Disorders

Pearce, Emily E

2023

Overview

Background: Telomere biology disorders (TBDs) are rare, cancer-predisposing, genetic conditions with wide phenotypic spectrums and ages of onset creating a burden of medical uncertainty. No research addresses medical uncertainty in this context.Methods: Study 1 is a qualitative thematic analysis of telephone interviews to explore medical uncertainty sources, issues, and management strategies of patients with TBDs and their caregivers. Study 2 is a mixed methods content analysis of TBD-related social media posts to assess types of medical uncertainty discussed online in the TBD community. Study 3 used the same methods as Study 1 to explore motivations for and perceived benefits and barriers to the use of online support resources.Results: Individuals with TBDs and their caregivers experience chronic or recurrent uncertainty, with a range of interrelated, dynamic, sources, issues, and management strategies. Scientific uncertainty included diagnostic and prognostic ambiguity and limited clinician knowledge of TBDs. Practical uncertainty focused on logistics of maintaining care teams across medical disciplines. Personal uncertainty encompassed self-identity, life goals, and relationship expectations post-diagnosis. Scientific, practical, and personal issues of uncertainty were interrelated: limited scientific knowledge of TBDs gave rise to practical and personal issues, which created psychosocial burdens including anxiety and barriers to relationship formation and health decision-making. Individuals with TBDs and their caregivers reported multiple evolving management strategies which included information-seeking and sharing, organizing aspects of uncertainty, stress-relief techniques, and connecting with peer support. In study 2, TBD social media posts included information exchange regarding diagnostic and prognostic uncertainty. Overall, post creators were white, female, parents of patients with TBDs. Study 3 revealed that most participants engaged in online support but expressed contradictory feelings about online resources. Perceived barriers included distrust of online platforms and lack of targeted resources.Conclusions: Medical uncertainty is a burden for patients with TBDs and their caregivers, but uncertainty sources and issues may change over time, impacting the utility of different management strategies. The intractability, continuity, variety, and fluctuation of medical uncertainty throughout the illness experience creates barriers to management peculiar to TBDs and may limit the effectiveness of uncertainty-management approaches developed in other rare and high-risk disease contexts.

• Publisher: ProQuest Dissertations & Theses
• Subject: Biology / Health care management / Psychology / Public health
• ISBN: 9798381386202