Living Through the Unknown: Exploring Hope, Uncertainty, and Identity in First-Time Gene Therapy for Rare Diseases

Abstract

Gene therapy represents a major breakthrough in molecular medicine, offering hope to individuals with rare genetic disorders who previously had limited treatment options. While the clinical efficacy of gene therapy continues to evolve, little is known about how patients experience this novel intervention, particularly when receiving it for the first time. Despite its promise, current research lacks insight into how patients make sense of the emotional and existential dimensions of undergoing gene therapy.

This study employs a descriptive phenomenological approach to explore how individuals with rare diseases interpret the experience of hope and uncertainty during their initial exposure to gene therapy. Data were collected through in-depth, semi-structured interviews with eight participants and analyzed using Colaizzi’s method to uncover essential thematic meanings. Four major themes emerged: hope as a negotiated lifeline, uncertainty as a psychological terrain, the body as a site of transformation, and the ethical burden of being among the first to receive experimental treatment. These findings illuminate how patients navigate emotional complexity and reconfigure identity through their encounters with advanced biomedical innovation.

The study contributes to a deeper understanding of patient experience in the context of gene therapy and highlights the value of phenomenology in capturing subjective meaning. These insights may inform more ethically responsive and emotionally supportive models of care, as well as raise important implications for how hope can be effectively managed and supported throughout the gene therapy process. Future research should continue to examine strategies for facilitating emotional resilience in patients undergoing highly novel and uncertain treatments.