Bio-behavioural research in a rare disease population: a doctoral student's experience.

Abstract

Novice researchers who aspire to contribute to the body of knowledge concerning rare diseases face unique challenges in developing and conducting studies. These include unknown effect sizes in previous research, limitations in recruitment and enrolment, and managing data from a multi-site sample. To describe the challenges in researching rare diseases and possible solutions using a doctoral student exemplar from a cross-sectional correlational study of fatigue. The authors discuss the lessons learned from the study, including the challenges in recruitment, communication, collecting biological data and managing data in general. They posit possible solutions, including improving multi-site coordination, feasible methods for exploring sleep and stress, and measures to prevent equipment and data loss. Rare populations, such as young survivors of childhood brain tumours, deserve a voice in building the body of knowledge needed for more precise, personalised healthcare. It is possible with foresight for the novice researcher to make such a contribution. Improved knowledge and assessment of symptoms during childhood will improve the detection of health risk factors and enable earlier intervention.