Navigating Existential Terrain: First-Time Patient Perspectives on Gene Therapy for Rare Disorders

Abstract

Gene therapy has ushered in a transformative era in the treatment of rare genetic disorders, offering previously unattainable therapeutic possibilities. Yet, the personal dimensions of undergoing such innovative procedures remain insufficiently understood. This study adopts a descriptive phenomenological methodology to explore the lived experiences of patients receiving gene therapy for the first time. Through in-depth, semi-structured interviews with eight individuals diagnosed with rare disorders, the research delves into how hope, uncertainty, identity, and ethical burden shape the patient journey. Four interrelated themes emerged: hope as a fluctuating life-affirming force, psychological uncertainty as a persistent presence, the body as a transformed and sometimes alienated space, and the weight of being among the earliest recipients of experimental treatment. These findings uncover the emotional and existential complexity of engaging with cutting-edge biomedical interventions and challenge traditional outcome-based paradigms in clinical research. Rather than portraying patients merely as subjects of medical innovation, the study foregrounds their active meaning-making and ethical considerations. Insights gained offer valuable implications for developing patient-centered care frameworks that acknowledge and support emotional resilience and identity transformation. Ultimately, the study contributes to a richer understanding of how patients navigate unfamiliar therapeutic landscapes and underscores the importance of incorporating subjective perspectives into the ethical discourse of emerging medical technologies.