Rare and undiagnosed: Daunting challenges for patients, doctors, and researchers alike

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). Access other PXJ articles related to this lens. Access other resources related to this lens

Awakening from a medical mystery: one patient’s experience of being undiagnosed

This personal narrative pleads for a supportive and comprehensive system or sub-system similar to that which exists for cancer patients, to deal with undiagnosed illnesses. By describing the torment of living with a debilitating illness that medicine could not easily recognize, then by contrasting this experience with my wife’s experience of the cancer care system, and by referring along the way to lessons learned many years ago from reading the works of the inciteful neurologist, Dr. Oliver Sacks, I hope to inspire the medical system to develop a separate, supportive and comprehensive system to deal with the undiagnosed. As it turns out, my mystery illness was a spontaneous cerebrospinal fluid (CSF) leak. This condition is 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. At the same time, my wife experienced the cancer system, allowing us to draw contrasts between the two experiences and leading me to implore the system to draw the two approaches together by identifying some of the missing elements for those with undiagnosed illnesses. To conclude, I make reference to the relatively new Undiagnosed Diseases Network as one possible model to accomplish the above goal across the medical system or within local medical systems. Experience Framework This article is associated with the Quality & Clinical Excellence lens of The Beryl Institute Experience Framework. (http://bit.ly/ExperienceFramework) Access other PXJ articles related to this lens. Access other resources related to this lens