Plain Healing:

Understanding the genetic disorders that afflict Amish children

TOM KNAPP | June 29, 2017 | Franklin & Marshall College

When Dr. Kevin Strauss launched a program at Franklin & Marshall College to explore translational medicine -- the way cutting-edge technologies could be applied to underserved populations such as the Lancaster County Amish -- he found a willing pupil in Mike Fox.

"Mike was in the very first iteration of the course," Strauss recalls, noting the curriculum was "about bridging the gap between medical science and clinical care ... and making better use of the avalanche of data generation that really hasn't reached patients in a meaningful way."

Simply put, he says, that means better outcomes, higher survival rates and lower costs to the consumer.

The class -- "Plain People and Modern Medicine," taught by Drs. Erik Puffenberger, D. Holmes Morton and Strauss, all of whom work at the Clinic for Special Children in Strasburg -- focused on attitudes toward modern medicine among the isolated, sometimes insular Plain Sect communities in the Lancaster area and the specialized diseases that plague them.

It altered Fox's career path. In fact, he says, it was "a huge reason that I ultimately went into pediatrics."

Fox, 32, and F&M classmate Matt Demczko, 31, are poised to open a new, as yet unnamed clinic to serve the Amish population in middle and southern Delaware.

And Strauss, who feels like he's passing the baton to the next generation of healers, is thrilled. Fox and Demczko, he says, "stood out at F&M as people who were very vigorous learners. Very much self-starters, and very inquisitive."

During consecutive fellowships at the Strasburg clinic, the young doctors were "both exceptional," Strauss adds. "They exceeded my expectations. Both brought a lot of fresh ideas to the practice, and they both have tremendous initiative."

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Fox spent a year at Lehigh University before transferring to F&M.

"I wanted to go to a school that was known for its strong pre-medicine program," he says. "I also loved the small feel of Franklin & Marshall, and the liberal-arts experience. It's a beautiful campus, and it just felt right."

He graduated in 2007, then went to the University of Pittsburgh School of Medicine, concluding studies in 2011. He completed a three-year residency at the Children's Hospital of Pittsburgh and spent 2015 as chief pediatric resident. Fox joined the Pittsburgh faculty for a year, then moved to the Delaware Valley and began his association with the Nemours Children's Health System.

Demczko graduated from F&M in 2008 and went to Philadelphia's Thomas Jefferson University Medical College, graduating in 2012. He did his residency in pediatrics at Nemours/A.I. duPont Hospital for Children in Wilmington before joining the staff there.

"I've always had an interest in genetic diseases," Demczko says. "From the start I found genetics fascinating ... and I tended to gravitate toward the more complex cases."

Demczko planned to enter the field of pediatric cardiology. Along the way he found himself drawn to more complicated health issues.

"I really enjoyed the cases that were multi-organ, multi-system," he says. "Cases that required thinking outside the box."

Besides the intellectual challenge, Demczko says the work provides him "a chance to help a population that was a bit -- I don't want to say underserved, but possibly not getting as much attention as they should."

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Together, they're eager to open the clinic.

"The Amish tend to live off the grid, but if they need the help, they are open to getting it," Demczko says. "The genetic conditions they have are incredibly complex. Some of the smartest scientists in the world don't understand the conditions that they have."

While the public perception is the Amish shun medical care, Demczko says that's not always true.

"A lot of them are very open to medicine, to therapies that can help their children," he says.

Dover's Amish population is smaller than Lancaster's, Fox notes. "It's more scattered, but it's definitely substantial. It's not nearly the tourist attraction that it is in Lancaster County."

In many ways, he says, that means the largely agricultural community is poorer and divided even more from the surrounding population.

The population emigrated from Ohio, not Lancaster, Fox says -- meaning a different genetic pool.

"We've been working with the doctors in Ohio to learn more about the diseases they face," he says. "Although the reality is that they're so poorly studied, from a medical standpoint, that we anticipate there being diseases we don't know about yet."

Already, he says, he and Demczko discovered a previously unknown ailment in six patients among the Delaware Amish.

It's a peculiar genetic mutation of an enzyme that converts DNA into protein, Fox explains. Because of the mutation, he says, afflicted children "are suffering a whole host of problems in their bodies. Four of the children have already died from liver failure. They also had problems with their brains, blood-sugar, hearing, vision, pancreatic function and growth."

A cure may be in the future. But now, Fox says, "we now can recognize the disease. And knowing what's wrong with these children -- and knowing what to expect from the disease -- gives us a head start. We are hoping we are able to mitigate the effects of the disease."

He and Demczko have a theory that liver transplants might help manage the symptoms "and allow these children to live longer, more productive lives."

And even if they can't help these particular patients, Fox says, "we might be able to help the next generation of children" born with the disease.

"These families have been incredibly generous with their time," he says. "They received a diagnosis for a child that is, essentially, a death sentence. But, knowing what is wrong with them, we are better able to be proactive in mitigating the impact."

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There are multiple barriers to dealing with a Plain population, Fox says. "The biggest and most obvious barrier is their lack of access to health care. That's largely due to them not having health insurance."

Some families are receptive to Medicaid, which has helped surmount some financial barriers, he says.

"Even so, these are communities that don't have a lot of health-care resources," he explains. "If you bring a child in who needs an MRI, you'd get an MRI without question. But in these cases, you have to be more selective about making choices ... because the Amish are going to get an itemized bill at the end of their hospital stay. They're going to pay for everything out of pocket."

There's also a big difference in the way medical professionals converse with Amish patients and their families, he says. "Generally speaking, Amish people tend to finish schooling around the eighth-grade level," he explains. "They're by no means stupid, but they don't have a formal high-school education. You have to keep that in mind.

"You don't want to talk down to them or sound condescending," he says. "But you also can't use advanced verbiage. The lingo is different."

Also, he says, "they tend to think things over more. They don't just make a decision, say 'Let's do this.' They go back, they talk to other family members and members of their community first."

There's a philosophical block, too. Fox says the Amish sometimes hesitate to treat a child's illness if it will be fatal anyway.

"That's another barrier we have to overcome," he says. "We can't always offer cures, but we can offer other things. Palliative care, measures by which we can keep the children comfortable. That's a difficult conversation to have with any patient, but when you're dealing with a population that has always done things one way, that can be quite a hurdle."

Of course, the Amish have limited access to health-care providers, Fox notes; because they travel by horse and buggy, they need a ride every time they need specialized care outside the local area.

"That's one of the biggest things this clinic in Dover is going to provide," he says. "We are bringing the care to them -- primary-care physicians, specialists, the whole team."

Strauss says the Strasburg clinic, which opened in 1989, led to the creation of similar clinics serving Plain-sect populations in Indiana, Ohio, Kentucky, Wisconsin and elsewhere in Pennsylvania.

"These guys are going to do great," he says. "They have been embraced by the Amish population without hesitation."

The Dover clinic will share a footprint with a Nemours-run primary-care practice and is scheduled to open in July, Fox says. It's designed with the Amish in mind, he says -- local art and quilts on the walls, hitching posts in the parking lot.

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Fox and Demczko grew up about 20 miles apart, Fox in Selinsgrove and Demczko near Shamokin, but they didn't meet until F&M, where they took classes together and had overlapping circles of friends.

They joked about working together, he said, but had no plans to do so until circumstances brought them both to Nemours and the affiliated clinic in Strasburg.

"Nemours was looking to hire two people. It just happened to be Matt and me," Fox says.

"People can't believe the small-world nature of it," Demczko adds.

Fortunately, he says, "Mike and I are very similar in the way we approach problems. I couldn't be more excited about having a friend along for the ride."