SAN DIEGO — Kim Goodsell started noticing physical ailments about 20 years ago, when she was in her 30s and training for an Ironman triathlon. She said she felt "a strange instability" related to the adrenaline of training and had to drop out of the competition.
After finally being diagnosed with 2 rare diseases, "I started looking for what I called the unifying field theory to explain why I had both these conditions," Goodsell said here at the Future of Genomic Medicine VII.
"As a physician, I've never met a patient like her," Eric Topol, MD, director of the Scripps Translational Science Institute in La Jolla, California, and editor-in-chief of Medscape, said during an interview. "She was able to crack the unifying diagnosis after having been told by the top experts in the country that she simply had bad luck."
Goodsell, who is now 56, said that years after she quit training, she experienced a run of tachycardia and was given her first diagnosis — arrhythmogenic right ventricular cardiomyopathy. After she had a defibrillator implanted, she started experiencing excruciating pain. "I couldn't even hold a fork," she said.
Goodsell's second diagnosis, for the neuropathy, was Charcot–Marie–Tooth (CMT) disease type 2, a progressive degenerative muscle disease. She underwent a full hip replacement for hip dysplasia.
In 2010, Goodsell asked physicians at the Mayo Clinic whether her ailments were related. She was told no. In fact, according to Dr. Topol, the odds of having arrhythmogenic right ventricular cardiomyopathyand CMT are 4 in 10 million, which is "less than the chance of being hit by an asteroid."
But Goodsell wanted answers. "I started looking for what caused my CMT, what genes might be involved," she said. "I came up with the LMNA gene. Mutations in this gene can cause bone disease, cardiac problems, neuropathy, and systemic degeneration. All my symptoms were there."
Goodsell's geneticist tried to dissuade her from private genomic testing, suggesting that the $3000 cost would be of minimal benefit. But Goodsell insisted.
"Lo and behold, the test came back positive," she said.
Then the real research began for Goodsell, who went on to study the molecular pathways of the products of the LMNA gene. "I found there was a convergence with lamin A/C and desmosomal proteins, and that I had a mutation in the LMNA gene that was perturbating the downstream desmosomal proteins. I wrote a whole dissertation on it," she explained.
The results were remarkable, said Dr. Topol. "Not only did she diagnose her disease, she set up her own treatment plan."
She now follows a strict diet. She eats no processed foods containing excitotoxins (free glutamates), and no gluten or solanine, a toxin found in nightshades like peppers, tomatoes, and eggplant, which she previously loved to eat.
Goodsell now has a new outlook on life. "I've dramatically improved. I've not only attenuated the progression of the disease, I've reversed it," she said. "I had lost function in my left hand and couldn't walk without support. I was in so much pain I couldn't see the purpose of living. But I'm back to my old life, traveling the world with my husband having outdoor adventures."
"She's a great inspiration," said Dr. Topol. "Not only to the public, but also to the medical profession. We were not aware that a patient would be capable of doing what she did. Leading physicians in the country were shocked that she could decipher her own problems. We need to give more respect to consumers."
Inspiration for Doctors and Patients
What is significant about Goodsell, according to Dr. Topol, is her single-minded focus and energy. "She said, 'I'm not going to sit with this, I'm going to research this myself'," he explained. "This is a story of someone with no medical background who focused on her multiple genetic diseases and cracked the case."
This is a particularly instructive case because the technology that Goodsell used is very recent. "Five years ago, she wouldn't have been able to do that research," he explained.
This was "a great way to jumpstart the conference," said John Barnard, MD, a pediatrician and medical director of the Research Institute at the Nationwide Children's Hospital in Columbus, Ohio. "That's really what it's all about — insight on human disease," he told Medscape Medical News.
However, Dr. Barnard added, "my second thought was a negative one. The story is compelling, but the woman was obviously an outlier in terms of knowledge, intellect, and energy to be able to do what she did."
Dr. Barnard said he thought about Ohio, "where I'm from, and Appalachia, where there are a lot of poor people who are uneducated and ignorant about genomics. When we take genomics public, how do we take it to Appalachia, where the healthcare needs are so dramatic, and how do we take it to the south side of Chicago, east St. Louis, and east LA," he asked.
Dr. Topol said that Goodsell is probably the first fully informed genomics patient he's seen in his practice, but that doctors should be prepared for this to change. "I think she's an exemplar of the future."
Going forward, Dr. Topol noted, "there will be a lot more patients like Kim. Millions of people will have their genome sequenced. If doctors don't get 'genomified,' their patients will."
Dr. Topol is a shareholder in Cypher Genomics. Dr. Barnard has disclosed no relevant financial relationships.
Future of Genomic Medicine (FoGM) VII. Presented March 6, 2014.
Medscape Medical News © 2014 WebMD, LLC
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Cite this: Patient Cracks Her Own Mysterious Dual Diagnosis - Medscape - Mar 18, 2014.