Bruce Hermesch, with legs made weak by a rare genetic disorder, wheeled his motorized chair down the street, away from his job as a police dispatcher and up the driveway of his home.
“I still consider myself a dairy farmer,” said Hermesch, 50, after he eased himself from his scooter to stand, tall and lean, though relying on a cane.
Until he was diagnosed some 23 years ago, Hermesch — a divorced father of two sons, Jacob, 11, and Dalton, 12 — had never heard of the disorder, called FSHD. Always athletic, he noticed that running and jumping became harder. The muscles in his chest looked weaker, shrunken. His strength over the years slowly drained away, forcing him to leave his family’s dairy operation. “Like a leak in the bathtub,” he said.
Though the disorder has changed his life, it also has brought him in touch with neurologist Jeffrey Statland, a Kansas City native who last summer was hired away from the University of Rochester in New York and who now, at the University of Kansas Medical Center, operates what has become known as one of the prime research programs on the disorder.
Statland is a 1987 Pembroke Hill School graduate whose physician father, the late Morris Statland, and physician uncle, the late Harry Statland, are known in Kansas City as the founders of the Statland Clinic, an internal medicine practice started in 1948 that became housed in Menorah Medical Center. The Statland Medical Group now is affiliated with HCA Midwest Health Systems.
“There are not many FSHD clinical and research centers in the U.S.,” said June Kinoshita, executive director of the FSHD Societyin Lexington, Mass. “Jeff Statland is making some of the most important contributions to the field.”
FSHD is shorthand for facioscapulohumeral muscular dystrophy, a tongue-twisting name that speaks to the hallmark effects of the genetic disorder: withering and sometimes contorting the muscles of the face (facio), the winglike muscles of the back (scapulo) and also upper arms (humeral).
Hermesch refuses to give into pity or to complain.
Although rare, affecting about 1 in 15,000 people (a Dutch study last year found 1 in 8,000), FSHD is one of the more common forms of muscular dystrophy. In the great majority of cases, the disorder doesn’t shorten life-span, but causes progressive weakness. Half have high-frequency hearing loss with aging. In severe cases, less than 1 percent, there can be profound hearing loss. Hermesch is among the 1 in 5 in whom the disease progresses enough to require a wheelchair.
“We all have our problems. All you got to do is look around a bit to find someone who’s got it worse,” Hermesch said.
He tires easily. Standing becomes onerous with weakened back muscles. His hands curl inward rather than lie flat. The hardest part of the disorder, he said, is not being able to play with his sons as he would like. At home, he sits in a chair to toss baseballs to Jacob.
In 2010, a collaboration of researchers from the Netherlands and the United States announced a breakthrough regarding the genetics of FSHD. Nearly 98 percent of the human genome is thought to be made of what is commonly known as “junk” DNA, noncoding segments generally thought to lie dormant. But in a paper published in Science, the researchers showed that FSHD developed when some of those segments awakened and caused disease.
At KU, Statland has run a range of FSHD studies, working with medical centers across the nation, periodically working with patients including Hermesch. Statland said a major part of his work is to use blood analysis, MRIs, muscle tests and strength tests to compile data that can be used to help doctors chart and predict the disease.
“I’m developing the tools that we use to measure how the disease is progressing in the setting of a clinical trial — the tools to help us know whether a medication is working,” Statland said.
Hermesch said his job is to help.
“Coming up with something that affects me personally would be the ultimate goal,” he said. “If not for me, if they can use anything I have to come up with something to help people, that would be great.”