She’s cracking her DNA code for answers to a life-threatening problem Kim Goodsell is relentless. An extreme athlete, she kite-surfs, climbs mountains and cycles up to 50 miles a day on a high-performance carbon fiber bicycle. She also happens to be at the epicenter of a growing digital medical revolution. The 56-year-old self-financed and conducted genetic research on her own life-threatening health problem — and discovered a genetic mutation linked to her disease. Goodsell has also invented a device to help others live with debilitating conditions. Her doctor — cardiologist, geneticist and researcher Eric J. Topol, of La Jolla, Calif. — has dubbed her “the patient of the future.” Discovering What Was Wrong A former world-ranked endurance athlete who dropped out of University of California San Diego to live more closely to nature, Goodsell started to notice problems in 1997 while running a triathlon. Something did not feel right. “I began presenting with a particularly lethal cardiac arrhythmia, ARVC,” she says. Goodsell received the most powerful implant on the market, an internal cardiac defibrillator. When it kicks in to correct arrhythmia, the shock it delivers is so violent it “lifts me and my bike off the ground,” Goodsell says. “It’s like a bomb exploding in my chest.” This kind of traumatic shock often results in post-traumatic stress disorder (PTSD) that patients experience for months and even years. Goodsell describes her relationship to the medical device in her chest as ambivalent. “On the one hand, it is my lifeline. On the other, it is a terrorist,” she says. DIY Genetic Sequencing Soon after the defibrillator was implanted, Goodsell began to experience motor dysfunction and systemic arthritis, which over more than a decade deteriorated into crippling pain and neurological dysfunction. ...
