Excellent Article about a CMT Patient who Diagnosed Her Own Condition



Bradley J. Fikes • U-T 12:01a.m. Mar 7, 2014

In an earlier age, the medical establishment would have branded Kim Goodsell as the patient from hell. The Carlsbad resident, who has no medical or scientific credentials, is assertive, studies research voraciously and doesn’t hesitate to tell doctors that they’re wrong.

But in the early 21st century, Goodsell may represent an increasingly important part of the future of medicine. While physicians are overwhelmed with a flood of information about the human genome, Goodsell diagnosed her extremely rare genetic disease with her own research. And while there’s no cure for the condition, she has applied that knowledge to improve her health.

Goodsell shared her story Thursday at the Future of Genomic Medicine conference, which will continue today at the Scripps Seaside Forum in La Jolla. She was interviewed by Eric Topol, the prominent Scripps Health cardiologist-geneticist. Topol presented Goodsell as an example of the “empowered patient” — informed and persistent, even when it makes her doctors uncomfortable.

The conference, now in its seventh year, brings together top physicians, researchers and industry leaders in a common bid to transfer genomics knowledge from the lab to the clinic. It’s sponsored by the Scripps Translational Science Institute and the journal Science Translational Medicine.

Goodsell’s struggle to manage her health has resulted in a business. Facing progressive disability, she teamed with DD Studio in Carlsbad to design the Rova, a prototype mobility device that provides the support of a traditional walker but on wheels, with baskets so it can be used for shopping, along with a smartphone holder and other features.

Goodsell, 56, has a disease that produces defective cellular proteins causing many seemingly unrelated symptoms, including irregular heartbeat and hip deformation. She was implanted with a defibrillator and had one hip replaced. Her hand grip weakened until she could barely hold a fork.

She saw some of the world’s best doctors, at Scripps Health and the Mayo Clinic, and found their diagnoses frustrating. Specialists confined themselves to their medical fields — cardiologists to the heart and neurologists to the nervous system. No one thought to put together her constellation of symptoms and seek an underlying cause.

“I was looking for a unified field theory,” Goodsell said, referring to the quest of physicists to explain the behavior of all matter, at the subatomic scale to the scale of the universe.

Goodsell has found it, she told Topol and the audience Thursday.

Active since her youth, Goodsell and her husband, Charles, enjoyed cycling up to 50 miles a day, mountain-climbing and kite-surfing. In the early 1980s, they trained for the Iron Man triathlon. She then got the first premonition that all was not well.

“Within a year, I became world-ranked. But I had to drop out because I sensed a very strange instability that came on with addition of adrenaline,” she said.

Over time, she added, “I started having these runs of very obvious arrhythmias,” she said.

By 1997, those irregular heartbeats became common, leading to “hundreds and hundreds” of serious episodes capable of causing death, she said. Goodsell eventually received an implanted cardioverter-defibrillator, which would shock her heart back into the proper rhythm.

She began studying her condition, drawing on her own past education. While she has no medical degree, Goodsell had been a pre-med student at UC San Diego.

Looking for that unifying theory, Goodsell delved into genomics, searching for mutations that could explain her varied symptoms. She found it with a gene called LMNA, which codes for making proteins known as lamins that stabilize cells. Defects in these proteins can cause a form of Charcot-Marie-Tooth disease, damaging nerves in the extremities and causing muscle wasting.

Symptom after symptom checked with the mutation. But to be sure, Goodsell needed a genetic test, and her Mayo Clinic doctors resisted. They warned her that the process would cost $3,000. (Insurance paid for it, which Goodsell didn’t know at the time.)

“It didn’t quite fit the diagnostic paradigm at the time,” Goodsell said.

She eventually prevailed and underwent the test, which confirmed her mutation. To help other patients, she wrote a dissertation. She also asked cardiologist Topol to see her, which he did — after six months.

“Did you have to mention that?” Topol asked Thursday, cringing slightly. It was after meeting Goodsell that Topol became a convert, and then a fan.

Taking the leap into self-therapy, Goodsell researched risk factors associated with her disease, examining what goes on at a molecular level. She changed her diet: Out went sugars, gluten and any food with additives. And out went a beloved snack.

“I used to eat bowls of jalapeño peppers,” she said. “I discontinued.”

But Goodsell added certain fats she had previously avoided, such as omega-3 fatty acids and nuts, which are rich in fats.

“Cell membranes are fat, and we need fat — good fat,” she said. “I was advised to start eating fat.”

Goodsell said her symptoms improved. Control over her hands increased enough to allow her to eat with chopsticks and to resume kite-surfing.

One of Goodsell’s doctors wrote up her case history, listing her as co-author “because he said I had done the lion’s share of the work.” The study is to be presented at an upcoming meeting of the Heart Rhythm Society.

Yet to the medical establishment, Goodsell is still a patient with no formal scientific or medical credentials.

“The ironic thing is, I can’t register and get in to (the Heart Rhythm Society meeting and) see a presentation of my own work, because I lack credentials and I’m not a family member of someone who is registered, nor am I providing to the industry in any way,” Goodsell said.

“That’s medical paternalism at its finest,” Topol said.

At the end of the Thursday interview with Topol, Goodsell received some advice from an audience member. The field of medicine, with its genome, microbiome and other “omes,” needs one more: the “patientome.”

“I think you should just build that field and then you’ll get in the door,” Goodsell was told.