The idea seemed ludicrous: A muscle-bound world-class athlete and an Iowa mom with arms and legs reduced to sticks, sharing the same rare muscle condition.
When her sister suggested it, Jill Viles scoffed. “Who in a million years would possibly put together somebody who can’t walk and somebody who’s an Olympic hurdler?” Viles said this week from her home in Gowrie, in north-central Iowa
But doctors had been wrong before about Viles, who lost use of her legs several years ago. And the more she examined photos of Priscilla Lopes-Schliep, a Canadian who won bronze in 2008, the more she began to think her sister was right.
Looking a picture of Lopes-Schliep from the back, “it was absolutely my dad. It was something I had seen since I was a little girl,” said Viles, a Des Moines native. “Our family is connected to that picture and we have a mutation” in a gene that led to the unusual physique. “It’s uncanny.”
But did they really share a genetic hiccup? And if so, why did it put Jill Viles into a motorized scooter but made Priscilla Lopes-Schliep a track champion?
The search for answers led Viles onto another leg of an already remarkable tale of discovery. It’s a science story, but also a human-interest story that has gotten attention from across America and around the world.
The quest goes on. Viles is seeking donations to support research into the differences and similarities between her and Lopes-Schliep – the anti-Jill Viles – with the hope it could lead to new therapies, even for those suffering from more common muscle conditions. With enough donations, Viles also hopes to help others travel to consult with the world’s leading expert in her condition.
UPDATE: I’ve corrected this post to note that Viles first guessed Lopes-Schliep has partial lipodystrophy after seeing a photo of her from the back, including her buttocks. Also, Viles’s conditions are both traceable to a single lamin gene mutation. The previous version suggested they may have come from two mutations. She also has all the symptoms of a version of muscular dystrophy, but only some symptoms of the condition she shares with Lopes-Schliep. The previous version suggested she had only some muscular dystrophy symptoms.
Viles, 41, is perennially cheerful and generous with her time. Her emails are long and detailed and come quickly in reply to queries.
She’s also a dogged medical detective who pursued the details of her condition the way Javert pursued Jean Valjean. Over the years, she’s digested dozens of research papers, attended scientific conferences, fought doctors, enlisted off-duty nurses to draw blood, contacted researchers across an ocean and more.
Writer David Epstein details her search in an excellent article that appeared last month on the ProPublica and Atlantic magazine websites. The National Public Radio program “This American Life,” also aired a story last month.
The ProPublica piece is long, but worth the time. There’s a shorter account here from the Toronto Star.
Both tell about a young woman driven to understand her condition. As a child she fell frequently. Then her muscles shrank, especially in her arms and legs. She suddenly lost the ability to ride her bicycle.
Doctors, even those at the famed Mayo Clinic, were stumped. They believed it was a form of muscular dystrophy, but didn’t have a firm diagnosis.
Viles, then still known as Jill Dopf, started college at Drake University and threw herself into learning all she could about muscle diseases, hoping to decipher her own condition. A genetics professor put her in touch with Dr. Thomas Horiagon, a researcher at the Human Gene Therapy Research Institute, then based at Iowa Methodist Medical Center, and she did an internship with him.
Epstein notes that doctors have been impressed with the young woman’s medical knowledge. It’s partly because she had good tutors. “You really have to work in a DNA laboratory,” Viles said. “You have to get in there and work with DNA and learn the lingo. You can’t teach yourself genetics by reading a book.”
Viles said she was driven by her desire to understand what the future may hold. “I really couldn’t go on with parts of my life,” she said last week. “A 19, 20, 21 year-old person really needs some answers if they’re to go forward.”
While she peppered Horiagon with questions, Viles also spent hours in the library, reading research papers and texts. She came across one describing form of muscular dystrophy called Emery-Dreifuss. The description of symptoms and photos of patients closely were familiar.
As Epstein details, Viles’ discovery led doctors to implant a pacemaker in her father’s heart: Emery-Dreifuss muscular dystrophy is associated with coronary problems. Robert Dopf was a noted Des Moines lawyer – a prosecutor for more than 20 years with the U.S. Attorney for the Southern District of Iowa. Ultimately, he succumbed to Emery-Dreifuss, losing his ability to walk and dying from heart failure in 2012 at age 63.
But even after doctors found her father’s heart problems, they were still unwilling to believe Jill had Emery-Dreifuss. It took Italian researchers four years to sequence her and her family’s DNA to confirm it.
A tiny variation in the DNA comprising a gene called LMNA, pronounced lamin, causes the condition. As Epstein ably details, lamin governs the nuclear lamina, proteins that activate or deactivate other genes. Lamin mutations cause a host of diseases.
Jill Viles went on to an internship at Johns Hopkins University in Baltimore, where her job was to sift through research papers seeking references to other diseases tied to lamin mutations.
Again, she spotted photos that bore a striking resemblance to family members. This time the patients pictured had a condition called partial lipodystrophy (LIEpo-DIStrofee). Essentially, it blocks the body from storing fat in some parts of the body, especially the arms and legs. With no fat to hide them, muscles and veins are highly defined.
But again doctors told Viles she was wrong. This time she moved on. She met Jeremy Viles and they married in 2006. They had a son, Martin, the next year. It was risky, but he did not inherit the mutated gene.
The track star
It was shortly after Robert Dopf died that Betsy Dopf pointed out the pictures of Lopes-Schliep to her sister. The Canadian hurdler ran track for the University of Nebraska before competing in the 2008 Beijing Olympics. In photos, she seems superhumanly muscular, with massive deltoids, thick thighs and washboard abs.
Robert Dopf also was muscular in his shoulders and arms. His kids even talked about his “Popeye arms,” with bulging muscles and veins. Some of his children had the same characteristics: A teen-aged Betsy Dopf developed massive upper arms. “She would have people follow her and ask where she got those guns,” Viles recalled. “Other parts of her are much smaller.”
Viles and her sister saw the same features – including a characteristic strong muscle definition between the buttocks and hips – in photos of Lopes-Schliep. “It’s just uncanny,” Viles said. “Once you’ve seen this expressed in the arms and shoulders you would know if you saw it on another person.”
Viles assumed Lopes-Schliep knew she had partial lipodystrophy. The runner had even mentioned it in news stories. But it was mostly family lore and she had never been tested or diagnosed. There was no need, Viles said: “She was a completely healthy person. You don’t feel like you need to go to a doctor to say ‘where’s my fat?’”
It was a long shot, but with Epstein as a go-between, Viles connected with Lopes-Schliep. Blood tests revealed they both have the fat-wasting familial partial lipodystrophy.
But there’s a twist, as Epstein noted: While both have lamin gene mutations, Lopes-Schliep’s is just a bit different. That tiny change is why she’s a powerful runner while Jill Viles uses a scooter.
It’s not all positive for the hurdler. The same blood test found she had dangerously high triglyceride levels. “When there’s not anywhere to store the fat, it goes places you don’t want it to go,” Viles said. Lopes-Schliep has since changed her diet and is on medication.
The other remarkable aspect: Others with lamin mutations identical to the one Lopes-Schliep has often suffer devastating muscular wasting and cardiac problems. Somehow, it’s had the opposite effect on her. It’s one of the things doctors want to study.
The bottom line for Viles: She has both Emery-Dreifuss muscular dystrophy and partial familial lipodystrophy, both originating from the a single lamin gene mutation. “It’s one of the most tricky elements of the story,” she said, because the overlap of the two conditions affects how they’re manifested. She has all the symptoms of Emery-Dreifuss, but only some of the symptoms of lipodystrophy.
has lipodystrophy’s muscle definition even though her muscles are small and her limbs thin, but she also doesn’t exhibit every symptom of Emery-Dreifuss.
“Meeting Priscilla was an incredible blessing,” Viles said, that led both to greater understanding.
Viles didn’t know what to expect after the ProPublica and “This American Life” stories came out. She feared some people might criticize her for taking the risk of having a child.
But the response has been so positive “it really warms my heart,” Viles said. Comments have been overwhelmingly supportive and websites and news outlets as distant as Sweden have picked up the account. Congenica, a British genetics company, “just wrapped their arms around this story,” Viles said, and offered to do free DNA sequencing to help expand the search for answers to family members.
“It would be fascinating to take the blood samples of Priscilla’s and my siblings” to compare mutations, Viles said. In some cases, doctors have sequenced DNA from two members of the same family and found identical mutations – but one is healthy while the other shows symptoms.
The goal could be broader than finding causes for Emery-Dreifuss MD or partial lipodystrophy. Viles hopes that what researchers find could have ramifications for others recovering from injuries or facing more conventional muscle loss.
To that end, Viles is raising money with a GoFundMe campaign to support research into the contrasting mutations. The funds would support work by Abhimanyu Garg, a doctor at the University of Texas Southwestern Medical Center in Dallas. Garg, whose research focuses on lipodystrophy, did the DNA sequencing that confirmed that Viles and lopes-Schliep both have the condition and that identified their specific mutations. Some of the money also may go to French scientist Etienne Lefai, who focuses on muscle mass regulation.
But a large share of the $200,000 goal, Viles said, would go to pay patients’ travel expenses to consult with Garg.
“You see these very rare mutations spread out all over the world, and it’s a really slow crawl to have individual doctors” studying them. “I see the future, in the broad strokes of the pen, may be having doctors focused on rare disease and have families travel to one location” for consultation.
Viles knows she is unlikely to benefit from this research. While doctors have no prediction, the cardiac problems that accompany Emery-Dreifuss (and killed Viles’ father) may well be her undoing. A brother, Aaron Dopf, already has a pacemaker, but Viles doctor sees no need for one and she remains in good health.
So at the end of February, Viles will make her latest contribution to medical science. She’ll be a “patient model” at a muscle disease conference.
“Basically, I just undress to my underwear” and medical researchers observe her symptoms – where she has fat, where she doesn’t. “I’m trying to be brave enough to do it,” Viles said, but she acknowledges that at some point “you move beyond being shy or overmodest because to understand this” doctors have to see it.
Maybe, she said, the dozens of specialists and researchers will return to their clinics and labs better equipped to identify lipodystrophy or Emery-Dreifuss. Then their patients won’t have to hunt through research papers and track down experts for answers.