This personal narrative identifies several challenges for patients, doctors, and researchers posed by rare illnesses and difficult to diagnose/long-term undiagnosed patients. In it, I describe several observations on my experiences as a long-time undiagnosed patient and now as one with multiple rare conditions. Rare conditions are all too often missed in diagnosis or dismissed, and treatment is often significantly delayed, such as it was in my case for nearly two years. Adding rare symptoms into the mix makes the challenges of diagnosis and treatment even greater, and I had some extremely rare symptoms. The only way I was able to identify my symptoms as being associated with my suspected diagnosis was by researching assiduously until I finally found a one-off case study describing two women with the same symptoms and with a diagnosis akin to the one my doctor was considering for me. I was able to rely on this case study; but when we consider that many medical practitioners, even medical specialists, don’t submit research papers for publication, it is clear there are holes in the reporting system when it comes to rare conditions. My neurologist, for example, does not publish, and so my case study is not in the medical literature. There need to be outlets for posting of such anomalies as I experienced if rare illnesses and rare conditions are to be fully documented in the literature.

Experience Framework

This article is associated with the Quality & Clinical Excellence lens of The Beryl Institute Experience Framework (https://www.theberylinstitute.org/ExperienceFramework).