Nothing plain about it: High-tech medicine in a low-tech world

Middlefield, Ohio -- This setting is a most unlikely one for the cutting edge of genetic medicine.

The plain white house sits down the street from a blacksmith. It may be a mere 90-minute drive from Cleveland, but in some ways, it seems hundreds of years away. Yellow road signs warn of horses and buggies. Some houses aren't wired for electricity or telephones, and cable television and the Internet are even less of a reality. People wear clothes held together not with buttons or zippers but safety pins.

But inside this white structure, the home of the Das Deutsch Center Clinic for Special Needs Children, the past, represented by the thousands of Amish who live in the area, and the future, symbolized by modern genetic medicine with all its trappings, come together.

The clinic was opened by the community six months ago to cope with the high rate of genetic conditions inherent to groups of people who do not marry outsiders. Yet its benefits will likely serve a much wider world.

On this snowy day in January, the waiting room plays host to Ruth Hostetler and four of her 10 children. With an infant on her lap and two children quietly sitting in rocking chairs at her side, she talks to Heng Wang, MD, PhD, about her 4-year-old son Jonathan. He has Down syndrome and a lung condition.

"We're really lucky to have Dr. Wang," Hostetler said. "We never realized how much we needed him until we got him. Jonathan's made a lot more progress."

Dr. Wang, a former bench scientist and nutritionist turned pediatrician with a strong genetics bent, is the clinic's medical director and sole physician. Part of the challenge he faces in this role is to bridge his world of science and the Amish world of faith.

"I feel I have slowly gained their trust, but it's not a one-day deal," Dr. Wang said.

The clinic is decorated with handmade Amish furniture as well as nods to the modern world and Dr. Wang's Chinese background. An amino acid analyzer rests on hand-polished wood floors. A large Chinese embroidered picture entitled "100 Children" -- a gift from Dr. Wang's in-laws for his first office -- was framed by an Amish craftsman.

Dr. Wang knows that to provide care in this community he must take into account its restrictions. Permission for electricity can often be arranged if it is medically necessary. Some Amish do have phones, but many don't. The Amish do not drive, so Dr. Wang makes house calls, particularly to families with more than one severely ill child for whom traveling to the clinic is next to impossible. "You have to take the extra step to go to their homes and tell them what they need to know," Dr. Wang said. "Often, you can't call."

He also has to consider the impact these limits have on the normal processes of science and medicine. For example, taking a photograph of a patient with a new disease to share with other scientists requires a delicate request. He also has to respect that this community has its own views on health and wellness. Preventive medicine is less compelling than deferring to God's will. There is interest in genetic testing if it leads to earlier and better treatment for children. But for couples who test positive for certain genes that could lead to birth defects, not having children or having an abortion are not options.

"These kids are referred to as 'God's special children.' They would like to keep them healthy so they don't suffer, but they don't view them as undesirable," said Holmes Morton, MD, a pediatrician who founded a similar clinic in Strasburg, Pa., more than a decade ago.

How it began

Work toward the Ohio clinic started five years ago when several of Middlefield's Amish families traveled to Dr. Morton's Clinic for Special Needs Children. That clinic has significantly altered the course of many patients with genetic disorders by addressing metabolic triggers as well as providing easier access to specialty care.

"If you take care of those children well, often you can dramatically improve the quality of life for the child," Dr. Morton said. "If you don't, you have a lifetime of disability to deal with."

The genetic diseases in Ohio Amish are different than the ones in Pennsylvania, but the families felt that the clinic model would still work. They raised $1 million from sources within their own community and through outside charities.

"The people realized a need and addressed it," Dr. Wang said.

They wanted a doctor who would have enough time to really help their children. Two years ago they recruited Dr. Wang, initially setting him up in a local doctor's office until the clinic officially opened.

Now, the clinic is primarily funded through grants and donations with only about 15% of the budget coming from payment for services. Dr. Wang is on salary and not bound by the usual constraints of managed care.

On this one day in January, a typical day for Dr. Wang, he spent a good 30 minutes with Jonathan, waiting for test results to determine if he had the flu. Much of that time Dr. Wang walked around the office with the boy perched on his hip. After the office closed, he drove out to visit a family that has four children with profound disabilities. Their condition does not yet have a name.

Ultimately, what this Amish population hopes for with this clinic are answers. They want to know why so many of their children have disabilities in hopes of providing better care for them. In Geauga County, the area that includes Middlefield, the Amish constitute 12% of the local population, but their offspring account for nearly 50% of the jurisdiction's special-needs children.

Diagnosis the first step

During the two years Dr. Wang has been involved here, he has diagnosed more than 35 genetic and metabolic conditions. Some are familiar ones -- Down syndrome, phenylketonuria. But he has also discovered more than 20 cases of Cohen syndrome, a genetic disorder so rare that there are only about 100 cases documented worldwide. And, working with a British research team, Dr. Wang discovered why the four children he visited during a house call that day in January cannot even smile. Those data are expected to be published within the next year.

"If we diagnose one patient, we diagnose 30," Dr. Wang said. "The first time I saw Cohen syndrome, it took a two-day house call to diagnose. The next patient was the same story and took much less time."

For many of these patients this is the first time their parents really have a handle on what is wrong with them. When Dr. Wang arrived, just over 20% of special-needs children in the community had a diagnosis. That number is now up to 60%.

But this is only a first step. There are few accepted treatment modalities for many of these diseases, so Dr. Wang is coming up with his own.

"After you get the diagnosis, you move on to the next challenge," he said.

For local doctors who have long struggled in trying to help these kids, the clinic is a welcome resource. Before, children were referred to academic centers elsewhere, but test results and other records rarely made it back to the primary care physicians.

"A lot of Amish kids, you know they've got something major going on, but [you] can't put a label on it," said John Tumbush, DO, a Middlefield family physician who is on the board of Das Deutsch Center. "Some of them have suffered in and out of the hospital and then died at 2 years of age from some unknown metabolic problem. It's been nice for the parents to get a diagnosis even if there's not much you can do about it. And [Dr. Wang is] diagnosing diseases I did not learn about in medical school."

This little "country genetics clinic" as Dr. Wang describes it, is not strictly for the Amish.

Several board members are non-Amish, as are about 20% of Dr. Wang's 120 patients.

Clinic founders are optimistic that what is learned here will provide benefits far beyond rural Ohio. It has great potential to do so because of the size of the community and its disproportionately high rate of some rare disorders. For example, scientists face serious challenges in studying the 100 cases of Cohen syndrome -- its progression and possible treatment -- when patients are spread all over the world. But the 20 cases Dr. Wang diagnosed are concentrated within a few hours of the clinic.

"The Amish want everyone to benefit from what we learn from their children," said Leah Nye, the clinic's nurse practitioner. "It's the Amish gift to the world."

The clinic may also provide a greater understanding of more common conditions that have similar symptoms to the rare disorders found here. The Amish have long participated in genetic studies. Their participation has led to discoveries of numerous genes for both single-gene disorders and more complex ones. Dr. Wang's work at the clinic takes genetic medicine one step further and applies what has been learned to broader populations.

"Rare diseases can answer the questions for the common diseases," Dr. Wang said. "If we can understand why people with Cohen syndrome have super hearing ability, maybe we can help them and also help a lot of people with hearing disability."

Thus, the clinic also represents an early example of how genetic medicine, which has met with distrust by much of the population, can be applied and even embraced outside the rarefied world of academia to serve a desperate need.

"The Amish live genetics," said Alan Shuldiner, MD, professor of medicine at the University of Maryland School of Medicine in Baltimore, who is studying the Amish in Pennsylvania in an effort to find the genes for hypertension, obesity and type 2 diabetes. "They know about the children. They know about marrying first cousins. Genetics are at the forefront of their culture."