Overview

In this section, you can learn about 20 adults and parents of children living with undiagnosed rare diseases. This includes their experiences with uncertainty, what it’s like waiting for a diagnosis, and fitting or not fitting within certain rare disease communities. Everyone who participated in the study is also enrolled in a undiagnosed disease program clinic.   

The goal of this project was to learn from a group of people whose lives are affected by undiagnosed diseases, and to understand their experiences looking for a diagnosis, coping with uncertainty, managing health issues, and enrolling in an undiagnosed disease program. We also wanted to have the data necessary to seek funding to develop a catalyst film or a full module. 

With our current data, we hope to provide valuable insights and a better understanding of living with an undiagnosed disease for multiple audiences including others living with undiagnosed diseases, their families, clinicians, the undiagnosed disease network in the United States, and potential donors or funders interested in helping to create a catalyst film. In a full module, you would learn about the broader range of experiences of individuals in the United States. We would dig deeper into the topics below as well as share additional summaries about experiences with healthcare, decision-making around enrollment of the undiagnosed disease program clinic, what it’s like living with an undiagnosed rare disease day to day, support, and their messages to others.