Lived Experience and Personal Meaning of Gene Therapy in Young Patients with Primary Immunodeficiency
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Abstract
Gene therapy has emerged as a transformative advancement in molecular medicine, particularly for individuals with rare genetic and immunological disorders. Despite its clinical success, little is known about how young patients subjectively experience and interpret gene therapy as a life-altering event. Existing literature tends to focus on biomedical outcomes, leaving a gap in understanding the emotional, existential, and identity-related meanings attached to the treatment experience.
This study employs an interpretative phenomenological approach to explore how young individuals with primary immunodeficiency disorders make sense of undergoing gene therapy.
Semi-structured in-depth interviews were conducted with eight participants aged 13 to 25 years, who had undergone gene therapy within the past three years. The interviews followed a flexible guide that encouraged participants to narrate their experiences before, during, and after the treatment.
In-depth interviews with eight participants were analyzed using Interpretative Phenomenological Analysis (IPA), which revealed five major themes: renewed hope, lingering uncertainty, reconstruction of self-identity, spiritual meaning, and transformed family relationships. These themes were derived from rigorous thematic analysis and reflect rich, lived experiences that extend beyond conventional clinical narratives. The findings show that gene therapy is not only perceived as a medical breakthrough but also as a deeply personal and symbolic transformation.
This study expands our understanding of gene therapy by highlighting the importance of addressing emotional and psychosocial dimensions in treatment planning. Future research should integrate phenomenological insights into broader models of patient-centered care, especially in genetic medicine.
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References
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