Embracing the unknown: investigating medical communication around uncertainty and the implications on patient and family well-being

Abstract

Rare diseases present immense challenges to physicians, patients, and the healthcare system at large due to a scarcity of research and knowledge in the field. This contributes to uncertainty surrounding rare diseases, which can hinder the management of these chronic conditions. An analysis of my family’s experience battling my mother’s ameloblastic carcinoma highlights the difficulties in communicating the uncertainty around rare diseases and their damaging effects on our family’s well-being. Here, we will recognize the importance of acknowledging uncertainty during diagnoses and advocating for enhanced detection strategies. The goal of this article is to emphasize that effective medical communication around rare diseases, accessibility to accurate information, proper services, and a shift toward a culture that prioritizes patient well-being are critical for improving health outcomes for rare disease patients.