An Incomplete Picture: A Scoping Review of Global, Original Qualitative Rare Disease Research

Abstract

Background Rare diseases, globally and collectively, pose a significant social and economic burden with far reaching implications in both high and middle- to low-income countries. An in-depth understanding of the first-hand experiences of rare disease patients, caregivers and service providers is required to fully understand the challenges these individuals and groups face. Only once such an understanding has been developed, can steps be taken to collaborate towards effectively addressing the relevant issues. Results The current scoping review searched the most prominent databases in order to isolate original, qualitative, rare disease research published between 2004 and 2024 to determine the scope and nature of existing qualitative rare disease research. The analysis of the 150 identified studies shows a substantial overrepresentation of research from both Europe (53%) and North America (29%), and a severe underrepresentation of qualitative rare disease research from Africa (1%). Conclusions The lack of qualitative rare disease research from Africa represents a lack of understanding, not only of the lived experiences of Africans, but also an ignorance of the complex cultural factors which would potentially affect the experience of “commonly” identified themes, such as interactions with healthcare professionals and parent advocacy, stigma and social support.