Of trust and science

On a recent morning they knocked on Mary Ann Stoltzfus' door, the research nurse and her Amish helper, just as they have on so many doors over the years. They didn't call ahead - most Amish don't have telephones. They tracked down Stoltzfus the old-fashioned way: They asked her mother-in-law for the address when they ran into her.

There were consent forms to sign, nosy medical questions to ask. The pair turned Stoltzfus' kitchen into a makeshift doctor's office, where nurse Theresa Roomet drew five vials of blood as the 40-year-old mother of six rested her elbow on the lacy tablecloth.

What began as one Maryland doctor's desire to learn more about the genetics of diabetes has, more than 15 years later, turned into a major medical enterprise with many millions of research dollars, findings published in major scientific journals and studies of diseases from obesity to osteoporosis in the Old Order Amish of Lancaster County.

In the name of cutting-edge genetic medicine, Dr. Alan Shuldiner of the University of Maryland slowly won the trust of the Amish community, a group leery of outsiders. He has persuaded more than 4,000 of them to be pricked, prodded and scanned, to eat low-salt diets or drink high-fat milkshakes.

"More times than not," Shuldiner said, "they're willing to participate in our research. We have become more and more demanding over time. And every time, the Amish have risen to the occasion."

The Old Order Amish of Lancaster County are considered ideal for genetic research because their gene pool is small, coming from a limited number of founders who arrived from Europe in the 18th century and have lived essentially the same lifestyle since.

Scientists like Shuldiner say the isolation of this 30,000-member community creates a powerful means for scientists to find the genes that lead to common diseases. With just 50 or so sets of chromosomes passed down from generation to generation for the past 14, the search for mutant genes that lead to disease can be simplified, and patterns that would be lost amid the genetic noise stand out.

His research doesn't yield information that is just of interest to the Amish. Shuldiner said he hopes his findings on heart disease, high blood pressure and the blood-thinner Plavix can be translated to the rest of the population - the "English," as the Amish call those not part of their community.

"The genetic problems that are studied here are just genetic problems that came from Europe 300 years ago," said Dr. D. Holmes Morton, whose Clinic for Special Children in nearby Strasburg has treated Amish children with rare genetic disorders for two decades. "Ultimately, the Amish people are interesting not because they're different from us. They are us," Morton said.

Among the findings of Shuldiner and his colleagues:

•A gene mutation in about 5 percent of the Amish slows down the breakup of triglycerides in the blood and appears to help prevent cardiovascular disease. Researchers hope they can create a drug that will mimic the mutation by more quickly moving fat out of the arteries and into the muscle and liver for absorption.

•A gene mutation that may cause the kidneys to retain more salt appears to raise blood pressure. Researchers found the mutation by analyzing the DNA of 542 members of the Amish community. They now estimate that 20 percent of Caucasians in general have this variant. The findings could eventually be helpful in treating hypertension.

•The obesity-causing effects of a gene called FTO can be overridden by high levels of physical activity, like that of the Amish. That suggests that even a person born with a susceptibility to obesity may be able to stay at a healthy weight.

And the nurses keep hitting the road to recruit people for new research, much of it funded by grants from the National Institutes of Health. Mary Ann Stoltzfus, for example, is one of more than 1,000 Amish women enrolled in a study of the genetics of breast density, a risk factor for breast cancer.

Shuldiner, 52, was not the first researcher to study the Amish. He got his entree into the community through the late Dr. Victor McKusick, the famed Johns Hopkins genetic scientist who studied the Amish 50 years ago.

Many others have come to study them since, taking blood samples and then not being heard from again. But Shuldiner came in 1993 and stayed, spending the first year driving around the county before dawn in his hatchback, collecting samples that he would painstakingly store in dry ice for transport back to Baltimore.

Now he runs the freestanding Amish Research Clinic, with ultrasound machines and heart monitors inside and hitching posts outside for horses and buggies. He employs several nurses; each time one knocks at a door to recruit the next patient, she has an Amish liaison at her side whose presence amounts to an Amish seal of approval for Shuldiner's work. He has no plans to retire, but says when the time comes, many members of his multidisciplinary team could carry on.

When Naomi Esh met Shuldiner in 1995, he told her about a diabetes study he wanted to do. He wanted to conduct three-hour glucose tolerance tests, which required participants to fast overnight, then travel to the clinic and get blood drawn every 30 minutes.

"I'm like, 'Isn't there any way we could do this in their homes?'" recalled Esh, an Amish woman who now works for Shuldiner. But it turned out that people were willing to take time out to do what the doctor asked.

"The road to research is paved by the way he treats the community, how he cares and takes the time to talk," she said.

Word of mouth is crucial in the Amish community, and soon, people were talking about Shuldiner. They liked being a part of something that could help others. The peace of mind that came from the free medical tests was another draw. And the money they got for participating was nice, too.

Now, Esh can go nowhere - to neighboring churches, to weddings, even funerals - without being asked what new research is being done and how they can help. "Sometimes I think I should bring a pencil and paper," she said with a laugh.

Shuldiner, an endocrinologist, keeps the community posted on what his clinic is up to with his annual Christmas letter, which charts the progress of his research and tells of forthcoming studies. In June, he hosts a picnic for the volunteers. And even though he has a full-time staff now, he is still a fixture here, 75 miles from his Baltimore office.

He attended the weddings of two of Esh's daughters. She and her husband attended his son's bar mitzvah.

"He's a very important guy in our field," Dr. Nir Barzilai, the director of the Institute for Aging Research at Albert Einstein College of Medicine in New York. "We scientists, it's easier for us to close off the world around us. Cultivating a relationship with a population is really something that not everyone can do."

It is indeed a lot of work. Theresa Roomet is up early, traversing the hilly countryside in her red minivan. Despite a 25-year career mostly spent on the 3 p.m. to 11 p.m. shift as a hospital nurse, she has somehow taken to farmer's hours, the kind required if you're going to work with the Amish. She has done blood draws as early as 4:30 a.m. to accommodate carpenters who need to leave for faraway jobs.

On this Monday, she started about 6:15 a.m., picking up her Amish helper, Sarah Glick. As the morning progressed and she made her rounds, signs of a culture frozen in time whizzed by her windows: fields tilled by plows hooked up to workhorses, freshly washed laundry lapping in the breeze, children in long dark pants and dresses playing baseball with aluminum bats in the schoolyards.

Around 9 a.m., Roomet and Glickstopped by the home of Elizabeth, a 41-year-old mother of 13 (6 of them children from her husband's first marriage), to sign the woman up for her first mammogram. Roomet had seen Elizabeth's sister already that morning and wanted to find a day that would allow the siblings to do the study together. In another culture, this would just take a few phone calls. Instead it took several road trips to set up.

When the medical workers arrived, a half-dozen pairs of church shoes sat atop the kitchen table, freshly shined and ready for the following Sunday. Elizabeth, in her white bonnet and apron, was busily sweeping her home's linoleum floor (she has no carpet because vacuum cleaners require electricity to run). She checked her calendar and agreed to have her test done later that week, when her sister is free, too, so they can spend the morning together. The driver the study pays for will allow them to throw in a trip to Costco.

The breast study isn't the first she has participated in. Her parents got her involved originally, and she continues on as a tribute of sorts to her late father. Besides, she figures, it's pretty important for her to stay on top of her well being.

"I have a big family here, so I need to stay healthy," she said.

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