A movie script could not play out like this. There are very few occasions when a rare disease patient becomes the topic of a story that is truly uplifting. Often the stories are tragic or disheartening. That was not the case, however, with CMT patient Kim Goodsell.
Kim recently became the subject of a story by the acclaimed science writer Ed Yong that simultaneously appeared in National Geographic online (http://phenomena.nationalgeographic.com/2014/08/19/how-an-extremeathlete-uncovered-her-own-genetic-flaw/) as well as the Welcome Trust blog, Mosaic (http://mosaicscience.com/ story/diy-diagnosis-how-extreme-athlete-uncoveredher-genetic-flaw). The article describes how Kim was a competitive triathlete until she was diagnosed with arrhythmogenic right ventricular cardiomyopathy (ARVC), predisposing her to sudden cardiac death. In the years that followed Kim’s motor skills became progressively compromised and thirteen years after her ARVC diagnosis, she was diagnosed with CMT 2B1, co-segregating with an Emery Driefuss Muscular Dystrophy (EDMD)-like myopathy. As unbelievable as it sounds, Kim had multiple rare diseases.
So Kim set out to learn as much as possible to understand whether her diseases were related. She eventually narrowed down the culprit to a gene called LMNA. She then had to convince scientists to dig deeper and went as far as funding the sequencing of the DNA of her LMNA gene. The results showed that Kim indeed had a mutation in LMNA. Kim ultimately wrote up a thesis on her whole experience and is trying to get her experience published. This unique ability to not only survive, but thrive, and drive research to diagnose the culprit for her own diseases has attracted interest from prominent scientists for several reasons. For one it shows how much a patient can do themselves when empowered to do so. And second, as a patient Kim knew more about her disease than anyone else including the specialists that looked into her diseases. CMT (and rare diseases in general) need patients like Kim that can make discoveries that could lead to a greater understanding of the disease. This inspirational story is not over and it will be fascinating to see what Kim does next on her voyage of rare disease discovery.
Thank you, Kim, for sharing your story with HNF…you are an inspiration!