How One Patient Researched Her Own Cure
She's cracking her DNA code for answers to a life-threatening problem
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.”
(MORE: How Crowdsourcing Solves Medical Mysteries)
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.
“One 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.
In 2010, Goodsell spent four days at Mayo Clinic and was diagnosed with four rare degenerative diseases. Topol told her the odds of having both her heart condition and the other diseases were 10 in 4 million and that she had a better chance of being hit by an asteroid.
There was no cure, no actionable plan other than to return in a year to measure the rate of degeneration and to get hip replacements when the pain became unbearable.
Goodsell refused to believe there was no way for her to heal. She and her husband, Charles, had spent a large part of their time together exploring wilderness in remote regions of the world and had resisted technology in favor of nurturing “that innate boots-on-the-ground intelligence that emerges when confronted by the forces at large, when there is no recourse to outside help.”
So Goodsell put her boots to the ground. “I seized my opportunity in the digital age of information and seized the data,” she says. Surfing in Baja by day, Goodsell surfed the web at night in a rented cottage in a dusty fishing town with spotty Internet.
“It was a self-financed genetic sequencing of a suspected causal gene. I cracked my DNA code,” she says. Goodsell became the first person to link a genetic mutation to her heart problem and other related issues.
Necessity And Invention
By 2012, Goodsell had undergone one hip replacement and was getting around on crutches. At the supermarket, she’d throw her crutches in the shopping cart and maneuver around by leaning on its handles. A stranger ran up to her one day there and said, “Oh, what a good idea! Don’t you hate crutches? Don’t you love shopping carts?”
It was an Aha! moment for Goodsell.
“We’ve found that one of the most limiting factors for an ambulatory disabled person is not being able to carry things,” she says. “If you think about it, the ability to carry objects and reassemble them at a distance is a defining character of human potential.”
She and her husband researched walkers. “What was out there was ugly, heavy and often not very stable or useful,” she says. “The disabled community has been terribly ignored in this age of connected high-tech design.”
(MORE: 7 Low-Tech Gadgets You Really Need)
The couple created an elegant, high-tech walker and partnered with San Diego’s DD Studio to invent ROVA (Realtime Operational Virtual Assistance). ROVA resembles a shopping cart, but it’s more streamlined and refined, more like one of the road bikes Goodsell races around on. Origami master Robert Lang contributed to the ROVA’s folding mechanism. Goodsell has formed a team to produce the walker and is looking for capital to fund it.
A Patient’s Treatment Plan
Thanks to a wildly successful treatment plan Goodsell devised that involves, among other strategies, eating no processed foods, no sugars and giving up her beloved jalapeno peppers, she doesn't need to use the walker herself. Goodsell continues her athletic pursuits and the exploration of the wilderness, but now with a wireless heart monitor that transmits real-time data to medical professionals while letting her watch for dangerous rhythms and avoid the “terrorist” shock to her heart.
Goodsell describes herself as a “digital patient, personal molecular researcher and an activist in the 'digital patient revolution.'”
Because Goodsell was the co-author of her own case history, Topol invited her this past spring to speak at the 2014 Heart Rhythm Society annual meeting, whose opening session focused on technology and medicine. Without medical or scientific credentials, special dispensation had to be granted before she was allowed to attend — the first patient ever to be admitted to the conference.
Topol interviewed her before a large audience with three big screens behind him showing his slides.
“I felt very small up there, with everyone staring at me, like I was exceptional,” Goodsell says. “But the point of the interview was that what I did was not exceptional. I take exception with being exceptional. I reject it because it leads to the socially-disempowering premise, that what I did is out of the reach of the ordinary patient.”
(MORE: 5 Ways to Make Your Doctor Your Partner)
Topol stressed the importance of patients partnering with their physicians.
“Dr. Topol believes people need to take ownership,” Goodsell says. “We need to seize the data. I know that what I achieved is a far reach maybe today, but five years ago, it would have been impossible. Tomorrow this will be more commonplace.”
Cecily Patterson is a freelancer based in Portland, Ore., who has written for Forbes, Art & Antiques, American Express, Spaces, 3M.com and other sites.
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