The Label: Forging Meanings of a Rare Genetic Diagnosis

Abstract

Despite vast improvements in genetic testing, rare pathogenic genetic variants may be considered unclassified due to insufficient clinical research, which limits the knowledge patients can obtain regarding their condition. As a result, this thesis examines the lived experiences of caretakers tending to children with rare neurological conditions by exploring coping mechanisms in response to genetic testing results. After conducting semi-structured interviews with caretakers, this study’s findings demonstrate that coping mechanisms enacted by caretakers cannot be simplified to a singular experience. Caretakers navigated an illness experience overcast with uncertainty, while building communities and exploring non-biomedical epistemologies. Equally important, caretakers and their children experienced health barriers and contrasting clinical interactions, further adding to their burdens. As qualitative research on caretaker experiences with genetic testing and pediatric neurological conditions is significantly lacking, this thesis aims to address barriers to optimal patient health outcomes and provide a comprehensive framework for understanding complex illness experiences.