Thomas R. O'Donnell

The mom and the hurdler: an update

In Uncategorized on October 7, 2019 at 7:44 am
Jill Viles (with her son, Martin) uses an electric scooter to get around. Patricia Lopes-Schliep is a world-class hurdler. The women have discovered they share a rare muscle condition. For Viles, it's part of the reason she can no longer walk. For Lopes-Schliep, it's part of the reason for her dominance on the track.

Jill Viles (with her son, Martin) in 2015 and Priscilla Lopes-Schliep. Image via the Toronto Star.

I’m behind the curve on this (life, you know), but I have an update on one of my most popular posts – one that still gets regular views, partially thanks to search engines, more than three years after it went up.

It’s the story of an Iowa mother who uses a scooter to get around due to a muscle-wasting condition and her strange connection to a world-class athlete.

Although the mother, Jill Viles, is still at it and busy spreading her story, the update is not all happy news.

Viles, of Gowrie, has Emery-Dreifuss muscular dystrophy, a genetic disorder that has left her unable to walk. It took years of digging into the medical literature, pestering physicians and studying genetics with researchers in Iowa and Baltimore to identify just what caused her condition.

Strangely, it also led her to find that she and Priscilla Lopes-Schliep, an Olympic-class hurdler, share similar genetic mutations. The DNA tweak is just different enough that instead of leading to muscle wasting, as it did for Viles, it instead caused a condition called partial lipodystrophy in Lopes-Schliep. Essentially, the mutation prevents fat storage in some parts of her body, especially the arms and legs, leading to an extraordinarily muscular appearance in her shoulders, arms and buttocks.

The mutation manifested in a similar way in Viles’ father, Robert Dopf, and in her sister, Elizabeth, giving them noticeably bulging muscles. But while partial lipodystrophy led, in a way, to the opposite of muscle wasting, it also causes dangerously high levels of triglycerides, increasing the risk of heart disease. Lopes-Schliep began taking medication to lower her levels after Viles got in touch with her.

In the end, researchers determined that Viles had terrible luck in the genetic lottery. She has both Emery-Dreifuss and partial familial lipodystrophy, both from the same mutation. Because of the way the ailments overlap, she has all the Emery-Dreifuss symptoms and only some of the lipodystrophy symptoms.

Meanwhile, another of Viles’ siblings, Aaron, unfortunately shared her muscle-wasting disorder, as she details in her new blog, diyscientist. Nonetheless, he went on to a fulfilling career, earning a doctorate in philosophy and teaching at Clayton State University in Atlanta and, later, on line.

The sad news is that Emery-Dreifuss muscular dystrophy claimed Aaron Dopf on September 2 at his home in Charleston, South Carolina. His services were held on September 8 in West Des Moines. Although it’s been more than a month, I’m sure the family would still welcome memorials to the University of Iowa, Department of Biochemistry – EDMD Research, 4-303 BSB, Iowa City, 52241. (Last month’s 3rd International Meeting on Laminopathies, the discipline that includes Emery-Dreifuss, was dedicated to Aaron Dopf when it was held in London.)

Jill Viles, as I said, is still spreading the word about her condition and pushing researchers to find treatments. I recommend subscribing to her blog. She’s an accomplished writer with an ability to define a complicated medical condition in human terms.

If only more of us had that talent.

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