Living with Uncertainty: Patients' Experiences of Off-Label Drug Use in Rare Disease Treatment

Abstract

The field of pharmacological research increasingly recognizes the importance of patient-centered approaches, especially in contexts involving rare diseases and off-label drug use. While off-label treatments are commonly prescribed when standard therapies are unavailable, little is known about how patients interpret and navigate these decisions emotionally and ethically. This study addresses that gap by asking: how do patients with rare diseases experience and assign meaning to their use of off-label medications? Using a descriptive phenomenological approach, this study explores the lived experiences of ten patients through in-depth, semi-structured interviews. Thematic analysis revealed four core themes: off-label use as a last resort of hope, emotional and ethical ambiguity, the influence of family dynamics, and the reassertion of personal agency. These findings were derived through systematic coding, thematic clustering, and careful interpretation of patient narratives using NVivo software. The results highlight the complex, deeply human dimensions of off-label pharmacological choices, emphasizing that such decisions are not only clinical but also profoundly existential. This study contributes to a more nuanced understanding of therapeutic uncertainty and calls for the integration of experiential narratives into ethical frameworks and clinical practice.