" On a good day no one knows"

Abstract

Improved survival for medical conditions that were previously fatal in infancy has led to more individuals living longer with chronic illnesses. These individuals, some of whom have largely unapparent, unpredictable, and yet severe symptoms from birth, may experience a unique set of physical, social, and emotional impacts associated with their condition as compared to youth with less severe, treatable pediatric conditions or individuals with adult-onset conditions. This dissertation explores these challenges using the case of youth with Barth Syndrome (BTHS), a rare, severe, genetic condition in males associated with life-limiting and life-threatening symptoms. Research questions explored: (1) how symptom severity, visibility, and controllability informed individuals’ social management and legitimization of BTHS; (2) how awareness regarding their limited, uncertain prognosis impacted life planning for youth with BTHS; and (3) which coping strategies individuals with BTHS used to manage the physical, social, and emotional impacts associated with their incurable, life-limiting condition. Thirty-three sixty-minute interviews were conducted in two groups: individuals with BTHS ≤15 years of age (n=18) and/or their caregivers, and individuals with BTHS ≥16 years of age (n=15). Interview transcripts were analyzed using Atlas.ti. Results demonstrated that (1) the severity, visibility, and lack of control over BTHS symptoms was associated with individuals needing to seek social support for their condition, rather than attempting to pass as healthy as other males with chronic conditions have been found to do; (2) individuals opted to forgo socially “on-time” goals (i.e., long-term, knowledge-based goals) based on their perceptions of their limited, uncertain time horizons and struggled to identify alternative goals; and (3) individuals used secondary coping strategies (i.e., regulating their emotional responses to their external stressor rather than controlling the stressor itself) to cope with the impacts associated with having an incurable, severe, and chronic health condition. These results can be used to inform practices for providing increased social and institutional support to chronically ill youth, including promoting positive coping strategies and facilitating meaningful, attainable, goal selection. These interventions may alleviate some of the challenges faced by the growing number of youth living with chronic illnesses seeking to safely and meaningfully engage in the realms of work, family, education, and social life.