Triathlete uses internet to defeat her rare genetic disease

The Atlantic gives hope to the new generation of WebMD obsessives with a fascinating tale of an athlete who used the internet to figure out what was *really* going on in her malfunctioning body:

She cycled, ran, climbed and skied through the Rockies for hours every day, and was a veteran of Ironman triathlons. She’d always been the strong one in her family. When she was four, she would let her teenage uncles stand on her stomach as a party trick. In high school, she was an accomplished gymnast and an ardent cyclist. By college, she was running the equivalent of a half marathon on most days. It wasn’t that she was much of a competitor, exactly—passing someone in a race felt more deflating than energizing. Mostly Kim just wanted to be moving.

So when her limbs started glitching, she did what high-level athletes do, what she had always done: She pushed through. But in the summer of 2010, years of gradually worsening symptoms gave way to weeks of spectacular collapse.

After four days of tests, Kim’s neurologist told her that she had Charcot-Marie-Tooth disease, a genetic disorder that affects the peripheral neurons carrying signals between the spinal cord and the extremities. It’s rare and carries a varying suite of symptoms, but Kim’s are typical, starting at the feet and heading upward. The neurologist explained that as her neurons died, the surviving cells picked up the slack by sprouting new branches—a workaround that masked the underlying degeneration until the rate of cell death outpaced the rate of compensation.

The Goodsells drove home and Kim, exhausted, slept for two days. When she woke up, she got to work. “My reaction to things that I have no control over is to find out as much as I can about them,” she says. She started by reviewing her clinic notes, and quickly noticed something odd: There was hardly any mention of her heart.

Years before she learned that she had Charcot-Marie-Tooth, Kim discovered that she had another genetic disorder—one that affects the heart, arrhythmogenic right ventricular cardiomyopathy (ARVC).

“I’m beyond impressed,” says Michael Ackerman, a geneticist at the Mayo Clinic. He specializes in inherited heart disorders like ARVC that can cause sudden death at any time. Such diseases make for people who do their homework, but Ackerman describes most as “Google-and-go” patients who check their diagnosis online, or read up about treatment options. Kim had written up her research as a white paper—36 pages of research and analysis. “Kim’s the only one who handed me her own thesis,” he says. “Of all the 1,000-plus patients I’ve taken care of, none have done extensive detective work and told physicians which genetic test to order.”

It’s a pretty fascinating look at what it takes to be an amateur diagnostician… and succeed at it.