Canadian hurdler Priscilla Lopes-Schliep can’t forget the phone call. A woman from Iowa rang her up and claimed they might share a rare genetic condition.
Lopes-Schliep still recalls that Sunday in February 2014 when the caller said “I looked you up on the Internet and I saw pictures of you.”
That caller, Jill Viles, 41, has spindly arms and legs and needs a motorized scooter to get around because her muscles are too weak.
Lopes-Schliep, on the other hand, has powerful muscles all over her body. The 33-year-old former hurdler won an Olympic bronze medal in 2008.
What rare condition could they possibly share?
What triggered the call was a picture of Lopes-Schliep in her running gear, showing her powerful build. The photo was noticed by Viles’s sister and set in motion the unlikely events that would tie Viles and Lopes-Schliep together.
For years, Viles pushed doctors and researchers for answers to her health problems, becoming a dogged, do-it-yourself researcher. Viles suspected she might have lipodystrophy, a rare genetic disorder, characterized by fat accumulating in the neck, face and pelvic areas.
Viles had already been diagnosed with a rare gene mutation-related ailment, Emery-Dreifuss muscular dystrophy, which causes extreme muscle weakness and joint stiffening.
Viles had shared her suspicions about lipodystrophy with her sister, Betsy. Betsy had attended a meeting in California in 2012 for people with lipodystrophy and heard Lopes-Schliep mentioned as someone who had an extremely low level of body fat.
Betsy showed Viles pictures of the athlete on the Internet. Viles found more online, including some from the Star, showing parts of Lopes-Schliep’s physique that reminded Viles of some of her own physical attributes and those of relatives.
One photo stood out for her: Lopes-Schliep talking to reporters in her running gear. From behind you can see her massive shoulders and sinewy arms, but her legs — while muscular — seem disproportionately thin.
Viles sought out David Epstein, an author and former senior editor for Sports Illustrated, who has written about athletes and genes. Epstein, who would later go on to write about the two women for ProPublica, in turn contacted Lopes-Schliep’s agent, Kris Mychasiw, who passed along the message that Viles wanted to connect with her on a health matter.
Hesitant at first — could the woman be a faker or someone simply wanting to get close to an athlete? — Lopes-Schliep agreed to the phone call, which came on Feb. 2, 2014. Lopes-Schliep, who has since moved to Nebraska, lived in the GTA with her family at the time.
During the lengthy conversation the two shared their histories — similar stories about being teased about their veins while growing up, the loss of body fat. Lopes-Schliep’s interest was piqued.
Then came the big ask. Viles wanted to come to Toronto to meet her.
The DIY Geneticist: How One Woman Diagnosed Herself, And Then ...
When doctors and scientists were stumped by the gradual disappearance of Jill Viles' muscles, Jill decided that if she wanted answers, she would have to find them herself. Without an M.D. or PhD., she set about researching her condition and discovered that she may actually have more than one incredibly rare genetic disease. And then she decided that she shared one of those diseases with an exceptionally muscular Olympic sprinter, a woman who could be the key to finding a new treatment.Read the full story, co-produced with This American Life: http://bit.ly/1qw33e
Posted by ProPublica on Friday, 15 January 2016
“That’s when I was kind of like ‘Uh, I don’t know this lady.’ ” Lopes-Schliep says. “That’s when I asked my agent Kris if I should meet with her or not. I decided I’d just meet with her in a public place,” she adds, chuckling.
The two women would meet the following April at the Westin Harbour Castle hotel on Queens Quay.
“I walked in there (the hotel lobby) not knowing what to expect, and then we started talking like we’d known each other for a long time,” Lopes-Schliep recalls.
Lopes-Schliep, looking at Viles, five-foot-three and 87 pounds, seated in a wheelchair, realized she “was harmless. She was there to help me out.”
They found a quiet spot and showed each other parts of their bodies. They spent the afternoon together, with Viles’s mother and Lopes-Schliep’s young daughters in tow. Viles’s husband, Jeremy, and 10-year-old son, Martin, stayed in Iowa.
Then came another big ask: Viles wanted Lopes-Schliep to get tested for the suspected genetic mutation.
A long search for answers
For decades, Viles has scoured medical journals and consulted doctors and scientists in a relentless search for clues to her own disorders.
Her birth was normal, and her development proceeded as any other youngster’s. But she fell a lot — bad falls. Viles later experienced burning in her legs. Her family took her to the Mayo Clinic, in vain.
As she entered her teenage years her condition worsened — fat disappearing, muscles weakening, joints stiffening.
In her 20s — her muscle deterioration having slowed down a bit — Viles was still searching, on her own.
“It’s frustrating,” Viles says. “You keep waiting for a doctor to walk in and say you have this or that, and this is how the disease works. I got to the point where I realized if I don’t get out and go look for myself,” no one would provide the answers.
At one point in her 20s she was in pre-med, considering a career as a doctor. But one of her professors asked her: could she handle the physical rigours?
She shadowed a doctor for a day and realized the job would be too demanding for someone with her muscle weakness. (She would later complete an undergraduate degree in biology and master’s in creative writing.)
Meanwhile, on campus she came across a study in a scientific journal that referred to the Emery-Dreifuss disorder. One of its hallmarks is heart problems. (Her research resulted in her father getting a pacemaker around age 45; he would die of sudden cardiac arrest at age 63.)
A firm diagnosis of Emery-Dreifuss came in 1999 from researchers in Italy after Viles sent them her blood samples and those of family members. She also sent along pictures of herself in her undergarments.
The test results showed she had the gene mutation for the disorder, as did her father, and three of her siblings.
But Viles also suspected she had another condition, lipodystrophy. Fast-forward to 2014 and the meeting in Toronto, where Viles asked Lopes-Schliep to get tested for that disorder. The runner says she didn’t feel pressured, and agreed because “sometimes you have a feeling in your gut.”
Later that year, Viles tracked down Dr. Abhimanyu Garg, a professor of internal medicine and metabolic disease at the University of Texas Southwestern Medical Center. Garg, a leading expert in lipodystrophy, agreed to conduct genetic screening to check for the condition.
The tests confirmed both Viles and Lopes-Schliep have lipodystrophy. But different mutations on the same gene are believed to be behind why Viles has her other condition, Emery-Dreifuss, and its debilitating characteristics, while Lopes-Schliep has her defined muscles and power, Garg said in an interview.
The discovery of the genetic link the women share is credited for saving Lopes-Schliep from a pancreatitis attack due to her condition. Immediately after tests confirmed the mutation, Garg called Lopes-Schliep to warn her she was on the verge of a pancreatitis attack because of the extremely high level of fat in her blood, a symptom of lipodystrophy.
“My jaw dropped,” the runner says. That’s because her cousin in Ajax had a pancreatitis attack about a year earlier and spent almost two weeks in hospital, much of that time being fed through a tube.
Lopes-Schliep, who calls Viles a “blessing in disguise,” was lucky. She’s now on the same cholesterol and triglyceride-regulating medication her cousin takes. Lopes-Schliep says she’s eternally grateful that Viles had the courage to reach out. As Viles sums it up: “It’s been an amazing journey.”