It is 5 degrees below zero and a light powdering of snow swirls across the roads of Vernon County. A few horses and buggies clop through the chill morning air, but Perry Hochstetler leaves his buggy at the family farm and has a driver take him to his doctor’s appointment.

The Hochstetlers are Amish. With no health insurance and a modest income, they cannot afford most doctors.

They can afford James DeLine, once the lone doctor in the western Wisconsin village of La Farge. Population 750.

When he became the village doctor in 1983, DeLine had no experience treating the Amish and no idea the crucial role they would play in his work. Today, about 20% of the doctor’s patients are Amish or Old Order Mennonite, part of a Christian population called Plain People. They are known for their separation from the modern world and adherence to a simple lifestyle and unadorned dress.

Something of a throwback himself, DeLine, 65, is a short, bespectacled man with a walrus mustache, a doctor who carries a brown medical bag to house calls. For years, he carried his equipment in a fishing tackle box.

He knows the families on every local farm and their medical histories. He knows who’s been born, and calls on the mothers and infants to make sure they are healthy. He knows who’s dying, and looks in on them in their final days, sitting by their bedside, talking in a gentle voice, making sure they have what they need for pain.

Before he goes on vacation, DeLine takes out ads in the weekly newspaper so that his patients will know.

As a young doctor, DeLine never imagined he would find himself someday with one foot planted solidly in medicine’s past, the other in its future.

The doctor who makes house calls also collaborates with English and American geneticists studying some of the rarest diseases on Earth. Some occur at much higher levels among the Amish, Mennonites and other closed communities that don’t allow marriage to outsiders. This prohibition increases the likelihood that when a rare, disease-causing mutation appears in the community, it will take root and pass from generation to generation.

Scientists use a special term, “the founder effect,” to explain how some variations in the human genetic sequence appear more often in groups that are geographically or culturally isolated.

It has taken DeLine and his staff years to gain the trust of Plain People, some of whom are wary of medicine and technology. Often, they fear that going to a hospital or clinic will mean surrendering the decision-making to doctors who neither respect their beliefs nor understand their financial limitations.

DeLine, not a religious man himself, accommodates the beliefs of patients and parents; he has always viewed them as the ultimate decision-makers. As a result, the clinic has become a magnet for Plain People. Some travel eight hours from Missouri or Iowa just to see him.

“We have to pay our own hospital bills, so we kind of shy away from big hospitals as much as we can,” Hochstetler says. “I’ve known Dr. DeLine for a long time. My dad’s worked with him. He’s always looking for a way to get the cost down.”

At first glance, Hochstetler seems an unlikely candidate for a rare disease or a health problem of any kind. Work at the local sawmill and his family farm has given the 26-year-old father of two a lean muscular frame. Beneath the skin lies another story.

“He has the vasculature of an 80-year-old smoker,” DeLine says.

Although he does not smoke, Hochstetler’s blood vessels are so blocked “that if I lift heavy things, I just can’t get my breath,” he tells the doctor. “At one point, it got so bad I could barely walk.”

He inherited the genetic mutation that causes an illness most people have never heard of: sitosterolemia. Only 100 cases have been described in the medical literature, but DeLine has 13 patients with the condition, including four of Hochstetler’s 10 siblings and their father.

The disease prevents the body from getting rid of lipids from vegetable oils and nuts, causing them to build up and clog the arteries. A normal level of sitosterol is no higher than 5; three years ago, Hochstetler’s level topped 250.

Since diagnosing the disease, DeLine has treated Hochstetler with a cholesterol-lowering drug called Zetia. His sitosterol level has dropped to 59. Treatment has also melted away another symptom, the bulbous yellow growths called xanthomas that jutted out from the farmer’s elbows and knees.

Without diagnosis and treatment, Hochstetler could by now have suffered a heart attack, a trauma that Zetia should delay, though for how long is uncertain. There is no cure for sitosterolemia.

While DeLine explains his progress and prognosis, Hochstetler remains calm, even jovial.

“I’m not afraid,” he says. “If I die young, I guess I’m going to die young. I can’t do much about it. I can’t say I ever get low and have the blues about it.”

Amish farms are clustered together along Highway D between Cashton and La Farge. Mark Hoffman / Milwaukee Journal Sentinel

The road to becoming a country doctor

A blizzard almost kept the doctor and village from their appointment.

It was February 1983. DeLine drove his family over hilly country roads, staring out the windshield into flurries and fearing their car might not make it to La Farge. The green 1972 Dodge Coronet was, he says, “a miserable piece of junk with bald tires.”

DeLine had just completed his residency at the Wausau Hospital Center. Now, a 10-member committee of locals was recruiting him to fill La Farge’s vacancy for a doctor. The village had been without one for a couple of years.

In the passenger seat sat the doctor’s wife, Ann, who was pregnant; in the back, their 15-month-old son, Michael. The snow kept falling and the car struggled up each hill. When it took five minutes to climb one, DeLine turned to his wife and said it was no use. They would have to find the nearest town where they could buy snow tires.

Later that day, the Coronet, rolling on new tires, finally arrived in La Farge and the DeLines dined with the recruitment committee at the home of one of the members.

The doctor liked the friendly villagers, a welcome change from the suit-and-tie types he’d interviewed with in other places. He and his wife had grown up in small towns. “We’re not fancy people,” he said.

But aside from a library, he saw little in the center of La Farge — just a burned-out building next to a bar. Driving back to Wausau after dinner, DeLine wondered aloud about the village’s recruitment effort: “How are they ever going to find anybody?”

He was 28 years old with a bad car, a growing family and $30,000 in unpaid student loans. The average salary for a family doctor in America was then around $80,000, enough to settle down and begin paying off his debt.

But the people of La Farge wanted DeLine — needed him. Their offer: $20,000.

That would have to cover DeLine’s annual salary, the salary of an assistant to answer the phones and handle billing, plus all the clinic equipment and expenses. “The clinic” itself was an empty, dilapidated building with orange carpeting on some of the walls and a couch that looked like it had been sitting in someone’s garage.

DeLine took the offer.

Folksy manner, cutting-edge medicine

At his house a few minutes’ drive from the clinic, DeLine has kept the same photograph taped to the refrigerator for the last 30 years: a portrait of a heavy-eyed doctor in white surgical scrubs leaning against a counter, cup of coffee in one hand, cigarette in the other.

The photograph, given to him by a favorite medical student, was taken by the legendary W. Eugene Smith and published in a Life magazine photo essay from 1948: “Country Doctor.” The photos told the story of Ernest Ceriani, the lone doctor in Kremmling, Colorado, population 2,000 — about three times the size of La Farge.

Other photographs in the essay showed Ceriani walking across a field with his black medical bag, helping carry the stretcher bearing a rancher’s son who’d been thrown from a horse, and administering morphine in a car to a woman stricken by a heart problem.

But it’s the photo of an exhausted Ceriani clutching a cup of coffee that best captures DeLine’s life as a country doctor.

The photo of country doctor Ernest Guy Ceriani, made famous in a groundbreaking Life Magazine photo essay by W. Eugene Smith, hangs on James DeLine's refrigerator door at his home in La Farge. Mark Hoffman / Milwaukee Journal Sentinel

“During the first five or 10 years,” DeLine says, “I did all my own night work and emergency work, rarely using the emergency room. So when a patient developed abdominal pain in the night I would do what assessment I could at their home or at the clinic, ride with them in the ambulance if needed, admit them to the hospital in Viroqua, administer pain medicine.

“If it was chest pain, I’d bring my own EKG machine and cardiac defibrillator, start an IV and run infusions of medication in the back of the ambulance.”

These days it is rare to find a doctor like Ernest Ceriani or James DeLine.

“The mandatory use of electronic health records — that got rid of the country doctor as we knew it,” says Therese Zink, author of the 2010 book, "The Country Doctor Revisited: A Twenty-First Century Reader," and formerly a doctor in tiny Zumbrota, Minnesota. “Adopting an electronic health form system is not a small investment.”

“These changes come out of huge health care systems like Kaiser Permanente,” says Byron Crouse, who retired last September from his job as associate dean for rural and community health at the University of Wisconsin-Madison. “How do you scale that down to a small, rural practice?”

In some cases, the cost of installing an electronic medical records system has forced country doctors to affiliate with hospitals or larger clinics. But the business model at such places discourages house calls. A doctor can treat three or four people in his office in the time it takes to drive out to a patient’s farm.

Over the years, DeLine managed to take in enough money to sustain the La Farge Medical Clinic. In 2003, the clinic was purchased by Vernon Memorial Healthcare, 15 miles west in the town of Viroqua. Today he works with two other doctors in La Farge and a total staff of 25.

The new ownership, the expanded staff, the addition of electronic records — these have not changed the kind of medicine DeLine practices.

“He’s maintained the Norman Rockwell bedside manner skills, and yet he’s working on the cutting edge of 21st-century medicine, the very newest science,” Crouse says. “I can’t think of anybody else who has that ability.”

Four years ago, DeLine’s clinic opened its Center for Special Children, which focuses on the diagnosis and treatment of children born with rare genetic and metabolic diseases. Many, but not all, of the center’s children come from Amish or Mennonite families.

At least two-thirds of the money needed to run the center comes from benefit auctions at local barns, where handmade Amish quilts and furniture are auctioned off, along with flowers, maple syrup and other goods. Much of the remaining money comes from corporate donors.

And some comes from the doctor himself.

At an auction in June, hundreds of locals filled a barn in nearby Cashton and there stood DeLine, bidding away, accumulating five brick-sized blocks of cheddar cheese, a broom, baskets, flowers, a rocking chair, a handmade wooden toy and 300 pounds of beef.

All but the beef, the broom and one block of cheese went to the clinic.

Country doctor James DeLine talks about his work with the Amish In 33 years at the La Farge clinic, Dr. James DeLine has gained the trust of many Amish. He understands their beliefs and their financial limitations, and he leaves the medical decisions to the families. Mark Hoffman, Milwaukee Journal Sentinel

Medical school was 'meant to be'

DeLine grew up in New Lenox, Illinois, a farming community outside Joliet.

The village of 1,750 was mostly cornfields. DeLine remembers it as the kind of place where children grew up building forts during the day and watching bonfires at night. DeLine had twin sisters five years younger than him. Their father owned a restaurant.

From the age of 13, DeLine worked at the restaurant six days a week, doing everything from washing dishes to cooking.

“I don’t remember much of high school,” he says.

From an early age, though, “it just seemed like I’d be going to medical school. It was meant to be.” Although he remembers no single point when he first considered becoming a doctor, the idea may have crystallized at a crucial moment between childhood and adulthood.

DeLine remembers nights when he could hear his mother struggling to breathe. He could hear his father, too, trying to persuade her to go to the hospital.

She had rheumatic heart disease and took blood thinners starting in her 30s. She sometimes joked about needing “a valve job.”

DeLine was 17 when his mother went in for the procedure.

He saw her once after surgery “but I didn’t like how she looked.” About the third day, his mother suffered cardiac arrest. She was resuscitated but had sustained a severe brain injury. Days later, the family shut off life support. She was 42.

One week after her death, James DeLine set out to become a doctor, leaving home for the University of Illinois in Urbana-Champaign.

Physician James DeLine eases into his work day starting at 5 a.m. at his home in La Farge. Mark Hoffman / Milwaukee Journal Sentinel

A demanding schedule

University life was hard. DeLine remained so mired in grief that when he ate, he suffered terrible abdominal pain and had to lie on his stomach for relief.

Still, he took on a demanding schedule. Driven students tended to enter the more advanced honors program in either chemistry or biology. DeLine, a physiology major, enrolled in both.

He paid for college through restaurant jobs and financial aid.

He went on to medical school, first in Champaign, then at the University of Illinois campus in Chicago. He lived in the city’s Little Italy section on the near west side. There he met his future wife, Ann Doherty, who worked in a print shop.

Doherty was not a woman who liked touching up her face with makeup, not even for her engagement photograph. She was comfortable with who she was, a quality DeLine found attractive. She already knew what she wanted most in life: to be a mom.

Previously, she’d been employed by the Catholic Worker house, a social justice program in Chicago. Like DeLine, her sympathies lay with the underdog.

DeLine graduated from medical school on June 7, 1980.

The next day, he and Ann married.

A week later, he started his residency in Wausau.

“To say I lived at the hospital would be a bit of an overstatement,” he recalls, “but not much.”

He would work a 24-hour shift, take 24 hours off, then head back for another 24 hours at the hospital. “By the time I’d stagger home for some rest,” he says, “I was sleep-deprived, hungry, with a headache.”

The schedule bothered his wife. She missed him.

In his next job, she would see even less of him.

Physician James DeLine checks on Dean Pease at Vernon Memorial Healthcare in Viroqua. Pease was admitted to the hospital for breathing difficulties. Mark Hoffman / Milwaukee Journal Sentinel

Attracting doctors to rural areas challenging

Brad Steinmetz, one of the villagers on the La Farge recruitment committee, remembers watching the DeLines drive off following the dinner and thinking, “We’ll never see him again.”

Attracting doctors to rural areas has always been a challenge and remains so.

In 2018, the health care company Merritt Hawkins reported that roughly 65 million Americans now live in areas deemed to have a shortage of primary care doctors; two-thirds of those areas are rural.

One reason for the shortage: Young doctors are often steered toward the kind of medical specialties practiced in larger hospitals. Obstetrics, cardiology, orthopedic surgery and other fields pay more and allow physicians to focus on one set of skills.

“Rural medicine is womb to tomb,” says William J. Crump, who had rural practices in Texas and Kentucky, and now serves as associate dean of the University of Louisville School of Medicine, Trover campus. Crump enjoyed the variety of country medicine.

“I couldn’t imagine not delivering babies,” he says. “I couldn’t imagine not caring for babies. I couldn’t imagine not helping people die a good death.”

La Farge faced an additional challenge in attracting a doctor. Vernon County, where the village lies, depended largely on farming and lumber and had one of the state’s highest rates of children in poverty — about 30% in 1980 and about the same today. DeLine wondered how he would ever build a practice in such an impoverished area.

But he found the landscape breathtakingly beautiful — snow as clean as cotton blanketing wooded hills and deep valleys, land dotted with white churches and faded red barns.

The young doctor couldn’t get the place out of his head. At night, he dreamed of La Farge. He imagined life as the village doctor.

“I think I liked the idea of building something out of nothing,” he says.

He and Ann agreed he would take the job.

James DeLine holds a 1982 photo of him holding his then-infant son, Michael, at Vernon Memorial Healthcare in Viroqua. Mark Hoffman / Milwaukee Journal Sentinel

In late June 1983, four months after the recruitment dinner, James and Ann DeLine arrived in La Farge, still driving the old Coronet. In addition to 18-month-old Michael, they now had 3-day-old, Benjamin.

“We looked a little like the Beverly Hillbillies,” DeLine says.

The family rented a little house across from the village school, 900 square feet for the four of them, $180 a month. “Our rent never changed,” he says, “We saved and saved and saved.”

The clinic needed significant work before it could open. The DeLines and volunteers from the village spent weeks refurbishing, scrubbing and painting. They reupholstered the old waiting room and stripped most of the orange carpeting from the walls.

The doctor also took a two-day course in Chicago on starting a practice, which offered guidance on insurance, bookkeeping, office layout and personnel management.

A few months before the clinic opened, DeLine was at the post office picking up his mail when a woman approached him. She had applied for a job at the clinic and wanted to introduce herself.

I’d like to work for you, said Marcia Bader, who had lived in the village for 12 years.

What can you do?

Anything, she answered.

When the clinic opened, Aug. 29, 1983, Bader assumed the role of office manager — receiving patients, scheduling appointments, typing letters and billing insurers. She would work at the clinic for the next 31 years until her retirement.

After a morning of driving around visiting patients, physician James DeLine, right, updates the staff at his clinic. Mark Hoffman / Milwaukee Journal Sentinel

On call 24 hours a day

In La Farge, DeLine worked harder than he had in his residency.

He was on call 24 hours a day, seven days a week. To make ends meet, both for his family and the clinic, DeLine worked five shifts a month in the emergency room at Vernon Memorial Hospital in Viroqua.

Some days he would work 9 a.m. to 5 p.m. at the clinic, then drive to the hospital and work 6 p.m. to 8 a.m. in the emergency room. He would return to the family’s home just in time to shower and get to the clinic by 9.

“There were times when he was tired, but it didn’t slow him down,” Bader says. “It was that deep-seated caring that kept him going.”

This drawing is a gift from an Amish patient. James DeLine keeps it on his desk at home. Mark Hoffman / Milwaukee Journal Sentinel

It was Ann DeLine, too.

The woman who had dreamed of being a mother did everything for the couple’s four children, all born within a five-year span. She washed cloth diapers and hung them out to dry. She cooked, cleaned, took the children for walks, helped with school and play, and accepted with grace all the times when her husband was called away from holidays and birthday parties.

"The calendar of holidays does not apply," she says. "He helps people when they need him — like the volunteer fireman races off when the alarm sounds; like the farmer plants and harvests when the ground and weather are ready.

"Life is lived by needs, not calendars and time slots."

A fixture in the community

Villagers embraced their doctor. Patients said they were accustomed to physicians who talked at them most of the time; DeLine listened.

The clinic struggled financially in the early years. “Not everybody paid their bills,” Bader recalls. “But the doctor wasn’t going to send them to collection firms, and he wasn’t going to stop caring for them.”

As time went on, the clinic’s financial outlook improved. In 1992, the village built an addition that doubled the clinic’s size.

The doctor and his wife became fixtures of community life. They went to their children’s cross country meets and other school events. They attended the annual Kickapoo Valley Reserve Winter Festival.

Before sunrise, the doctor was up jogging, usually through the wooded trails on the reserve. From April through July, the DeLines would head out once a week at dusk with a group of locals for a "frog walk." They'd listen for the call of the wood frogs and spring peepers and watch for owls.

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DeLine joined the Lion’s Club and became a school board member.

But it was his presence in the homes of area residents that endeared him to them.

“My father was diagnosed with colon cancer in 1994. The thing that always struck me was that Dr. DeLine stopped in to see my mom and dad one night after a basketball game,” recalls Bonnie Howell-Sherman, editor and publisher of the weekly Epitaph-News in nearby Viola.

“That was just unheard of. … My mom is going through dementia now and out of all of the people she’s met since she’s been here, he’s the one she remembers.”

The doctor's turn for illness

The villagers didn’t just like DeLine. They depended on him.

They worried about him too.

“There’s been two things about Dr. DeLine that the whole community has been concerned about,” Steinmetz says. “One was, how do we keep him? The other was that he stay healthy.”

From time to time, rumors spread that the doctor was sick, even dying.

In 2007, it was more than a rumor.

DeLine had noticed a problem. He would urinate, only to discover a short time later that he needed to go again.

It was prostate cancer.

Feeling, as he put it, “reflective, maybe anxious too,” DeLine approached the Epitaph-News editor. He asked to write a series of columns for the newspaper describing his illness and treatment. He would counter the rumors with transparency. He called the column, “From the Other Side.”

“I decided early on that I was comfortable sharing my experience with our community,” he wrote in the first column. “After all many of you have shared your concerns, fears and symptoms with me for nearly 25 years. … Each of us knows that our turn must come for illness and eventually death.”

He described his disease and treatment in clear, sometimes colorful language.

“I knew I needed to be biopsied," he says. "I wondered whether the biopsy would be like my father had described, in a way only he could, ‘It’s like getting kicked in the ass by a horse.’ ”

DeLine found his own words for the experience: “a little like a cap gun in the rectum — bang, bang.”

He described the literature searches he did after learning he had cancer and laid out the treatment options and cure rates. He discussed his fears about surgery to remove his prostate — “Would I be able to jog again?” He even shared the frustration of phoning to make a doctor’s appointment and going through endless computer prompts before reaching a live human voice.

His columns took readers through his surgery, recovery and return home.

The way the whole village shared the doctor’s illness and treatment, “that’s part of small-town life,” explains Howell-Sherman, the newspaper editor. “Rather than having people second-guessing, you get out the proper information and there’s no question. I know people were reading the columns.”

It’s been 12 years since DeLine’s surgery. The cancer has not returned.

An Amish teen pulls farm machinery down a road in La Farge. Mark Hoffman / Milwaukee Journal Sentinel

Earning the trust of the Amish

Of all the relationships the doctor built in La Farge, the most challenging involved his Amish patients.

The Amish established their first Wisconsin settlement in 1909 in Sawyer County. Lured by the availability of smaller, cheaper farms, the first 32 families came from a wide swath in the middle of the country: Iowa, Indiana, Montana, North Dakota, Oklahoma, Ohio and Kansas.

The first settlement didn’t last, but a permanent community was established in 1920 in Taylor County, and numerous others followed. The Amish worked their own farms, practiced carpentry and other trades, and found jobs in the local lumber mills.

Today Wisconsin has the nation’s fourth-largest Amish population, about 22,000. The Amish in Vernon County where DeLine works, “are on the more conservative side of the spectrum,” says Steven M. Nolt, author of “A History of the Amish” and a senior scholar at Elizabethtown College in central Pennsylvania.

DeLine found his medical work was affected by a deeply held principle among the Amish, expressed in the German word gelassenheit, which means yielding oneself to a higher authority. Among the Amish, Nolt says, the word encompasses a calmness and patience, as well as a belief that individualism must take a back seat to the good of the community and the will of God.

DeLine learned quickly that Amish did not go to the doctor for a minor injury requiring a handful of stitches. If an Amish man came in with a sledding injury, it meant a large portion of his arm or leg had been torn open. When a woman came in to give birth, more than likely she’d had few if any prenatal visits.

A sign warns motorists they may encounter horse-drawn vehicles on Highway D between Cashton and La Farge. Mark Hoffman / Milwaukee Journal Sentinel

While some Amish visit hospitals and accept modern medical techniques, others prefer natural methods and traditional treatments: herbs, vitamins, supplements and home remedies. In the La Farge area, it is not unusual for an Amish family to turn to these methods before deciding to see DeLine.

Such was the case with Abie and Edna Yoder when their 8-year-old daughter, Barbara, first grew sick in spring 2015.

The girl had little appetite and suffered from a terrible stomachache and bloody diarrhea. Because she bathed and dressed herself, the Yoders were unaware of the toll her illness had taken. To their horror, they discovered that beneath her clothes she was skin and bones.

Barbara weighed 38 pounds — 19 pounds below average for an 8-year-old.

A midwife gave the Yoders an herbal medicine and told them to give Barbara a few drops every 15 minutes. But pain still wracked the girl’s stomach. Her legs grew too weak for the walk to school; an older sibling had to pull her in a wagon.

The Yoders took her to a so-called “non-traditional doctor” used by some of the Amish; these tend to be herbalists, specialists in natural medicine and others, all of whom lack medical degrees. He viewed her blood under a microscope and told the family she might have colon cancer.

The parents worried terribly about their daughter’s survival, but worried too about putting her in the hands of a traditional doctor. The scenario that haunted them had happened to a 3-year-old Amish boy with leukemia. The boy was given chemotherapy, they say, despite the excruciating pain and ultimate failure of the treatment.

“He begged to be released to go to Jesus,” Edna Yoder recalls.

“We did not want to see our child suffer with chemo,” Abie Yoder explains. “We just didn’t want to get caught under something we wouldn’t have control over.”

“To see her leave the world,” Edna adds, “would have been easier than to see her suffer on and on and on.”

The Yoders approached a midwife, who sent her husband to speak with DeLine. The husband explained to the doctor the circumstances and the family’s hesitation. Then the Yoders brought their daughter.

"Dr. DeLine made it really clear that he would respect our wishes,” Edna Yoder recalls.

Their daughter was admitted to American Family Children’s Hospital in Madison. DeLine consulted with a pediatric cardiologist he’d worked with at UW, Amy Peterson.

“Dr. DeLine had noticed that she had interesting looking bumps on her arms and on her legs,” Peterson recalls. “They were deposits of cholesterol. Dr. DeLine and I started thinking along very similar lines very quickly.”

Genetic testing confirmed their hunch. The girl had extremely rare sitosterolemia, the same illness that would later be diagnosed in Perry Hochstetler. The illness causes the lining of the blood vessels to thicken.

Knowing the cause of their daughter’s illness came as a relief to the Yoders, though they were now forced to deal with the possible implications for their 10 other children.

“We tested them all, and none of them had it,” Edna Yoder says. “But all except three are carriers.” Carriers have the genetic mutation that causes the disease but do not suffer the symptoms. They can, however, pass the disease to their own children.

Treatment lowered the girl’s sitosterol levels and helped her gain weight.

DeLine and Peterson have since found among the local Amish a dozen other cases — the second largest cluster of the disease in the world.

An Amish farmer makes his way to work on a fence along Highway D between Cashton and La Farge. Mark Hoffman / Milwaukee Journal Sentinel

Encountering nature's cruelest illnesses

Almost 200 diseases are found in much higher proportions among Plain People. Scientists have developed a special Amish genetics test that screens the blood for more than 120 of them.

DeLine has seen patients with more than 30 of the diseases on the test and has at least two patients with diseases never described in medicine.

One of the rare diseases DeLine has encountered, SNIP 1, causes severe developmental disabilities, seizures and other symptoms. Only 34 cases of the incurable disease have been identified worldwide; DeLine has seen nine.

Across the globe, there have been only 20 to 30 cases of a disease called BRAT1; DeLine has seen six. Babies with the illness are born rigid and are prone to frequent seizures.

“When the baby is born you can’t straighten the baby,” DeLine says. “The eyes are jerking, face twitching. Some moms say they have felt things that suggest the babies have been seizing in the womb.”

There is no cure for BRAT1. Afflicted babies die within months. “But if we can identify it,” DeLine says, “the family can take the baby home and they take great care of the baby until the baby passes away, and they don’t spend five farm’s worth of money.”

Digging for answers to a mystery

One morning in June, an Amish family — Ruby Miller, her husband, Sam, and their 19-month-old son, John Ray — journey two hours to La Farge from their farm in Dalton, hoping for an answer to a long-running mystery: Why was John Ray born with an enlarged head, developmental delays and heart problems?

DeLine’s team has been digging into the question for months.

The Millers are shown into an exam room to meet with DeLine and Katie Williams, a genetics fellow at UW Hospital and Clinics.

The parents explain that despite his other problems, little John Ray has been eating well. Still, his weight was in the 15th percentile for a child his age. He was starting to say words but trailed other toddlers who were able to say 20 or more words by 18 months.

“Every once in a while, there is a distinct ‘Mom’ or a distinct ‘Dad,’ ” Sam Miller says.

DeLine and Williams explain that testing revealed his condition is caused by a single chemical base in a single gene called CHD4. The gene affects a protein used by every cell in the human body. John Ray ended up with the base adenine instead of thymine, the equivalent of a single typo in the 3.2 billion letters that comprise a person’s genome.

The change was not inherited from his parents; it occurred spontaneously. Now that John Ray has the change, however, if he grows up to father children of his own, each will have a 50% chance of inheriting his extremely rare developmental disorder, Sifrim-Hitz-Weiss Syndrome.

DeLine and Williams stress that so few children have had this disease that it isn’t clear what will happen when John Ray gets older. “I wouldn’t put any limits on him,” Williams tells the Millers.

Outside the exam room, Sam Miller says the diagnosis has put their minds at ease, that “we went as far as we can go.” He shows no sadness or anger over the fact that a tiny mistake in the genome has made life harder for John Ray.

“A special needs child,” he says, “is a little bit of heaven down here. I think they are God’s special children. It’s an honor that we were chosen to take care of one of them. He’s been a joy.”

Amish hats and bonnets lie on a table at an event called Jalili Syndrome Family Day May 9 at the community center in La Farge. Mark Hoffman / Milwaukee Journal Sentinel

Help from geneticists from England

On another spring morning, 50 Amish and Mennonites gather at the La Farge Community Temple, a former Masonic Temple a few blocks from the clinic.

DeLine and his staff have brought together families with similar illnesses to hear from two of the clinic’s scientific collaborators studying these conditions: Emma Baple and Andrew Crosby, both geneticists from the University of Exeter in England.

Both have been working with DeLine for about five years, ever since he approached them at breakfast during a conference in Ohio. Baple describes DeLine as, “visionary … with a deep understanding of his patients."

Some of the children in the meeting hall suffer from a rare illness called Jalili syndrome, which causes progressive vision loss leading to blindness. The illness also triggers a loss of tooth enamel, causing teeth to turn yellow or brown. Jalili syndrome was discovered in 1988 and so far it’s been found in only a few families worldwide.

Others at the meeting have one of two other rare diseases that cause vision loss: Leber congenital amaurosis and Senior-Loken syndrome, which also damages the kidneys.

DeLine tells the families, “There’s really a sense of hope that in these kinds of cases we might be able to make a difference.”

To date, Baple and Crosby have identified 75 conditions that were new to medical science, of which 30 are found in higher levels in Amish communities. In a few cases, research into these rare diseases has reached the point where scientists are describing potential therapies.

Genetics researchers Andrew Crosby and Emma Baple, both from England, are assisting physician James DeLine. Mark Hoffman / Milwaukee Journal Sentinel

“Our role is to support him and get answers for those families," Baple says. "Our great hope is that we can find something to mend or ameliorate the condition.”

Although there are no cures for the diseases discussed at the meeting, Amish families say they are glad to have a diagnosis instead of a mystery.

“We didn’t know what our children had until we took them to La Farge,” says John Yoder, a farmer (unrelated to Abie and Edna Yoder) who came to the meeting from Fairchild, a village of 550 more than 90 miles to the north. “We were just kind of up against a brick wall. We knew something was wrong.”

Yoder’s son, Simon, one of 10 children in the family, is colorblind and experiences tunnel vision. Sometimes he walks into objects. The Yoders tried fitting him with eyeglasses, but the child’s sight kept deteriorating.

DeLine and his staff took blood samples three years ago when Simon was 14. Within a couple of weeks, the boy was diagnosed with Jalili syndrome. His younger brother Moses also has the disease. DeLine and his colleagues have found four others who have the illness, the first cluster of Jalili patients ever discovered in the United States.

John Yoder found the news that Simon and Moses had inherited the illness troubling.

“It kind of changed my opinion on marrying too close,” he says. “Me and my wife are actually related to each other. We’re second cousins. It happens a lot among the Amish.”

While diseases such as Jalili syndrome are extremely rare, identifying them in Wisconsin’s Amish helps doctors to watch for them in Amish communities in other states. It also improves the understanding of genetics, showing how a single gene can affect seemingly unrelated areas of anatomy, such as eyes and tooth enamel.

“It’s hugely powerful for genetic studies,” says Leslie Biesecker, who works for the National Institutes of Health as chief of the medical genomics and metabolic genetics branch. “The whole field of human genomics is about understanding the entire genome which is a fantastically complex thing. To put together this gigantic mosaic of knowledge we need to understand its parts.”

Advances in genetics, including the research by DeLine’s collaborators in England, have helped Yoder and his wife explain to their sons why they have problems with their vision.

“We told them, ‘It’s something you were born with. It’s something you have to live with and we’ll help you as best we can.’ ”

Lessons from the Amish

Over the years, DeLine and his staff have learned that the Amish families they treat view birth and death in ways that differ from much of the population.

Amanda DeVoogdt, a midwife in St. Paul, Minnesota, before coming to work at the La Farge Clinic, says her first Amish birth four years ago was strikingly different from any she’d seen in the city.

“I’m used to giving a lot of verbal and emotional support during labor, talking, massaging,” she says. “I was kind of doing the same thing, and the Amish woman looked up at me and said quietly, ‘Shhh.’ It’s a lot quieter. … They are self-sufficient in their lives so much, and that carries over to labor.”

There are no bright lights in the birthing room. The women don’t request epidurals to dull sensation below the waist. The doctor seldom uses forceps. Sometimes the woman’s husband will lie beside her on the bed.

“The mothers are in a state of deep restfulness,” DeLine says. “It’s a wonderful thing to observe. It’s very important to help women to get to that place.”

The doctor says the same sense of serenity shapes the way Amish accept bad news, even death.

Months ago, he called on an older man dying from a lung condition. DeLine sat by his bedside and asked if the man wanted to go to the hospital. The patient smiled up at the doctor.

“I think I’d prefer to go to heaven,” he said.

Four hours later, the man died.

A motorist passes the La Farge city limits sign. Mark Hoffman / Milwaukee Journal Sentinel

Finding contentment in La Farge

Thirty-six years after that journey in the snowstorm, the DeLines are content with the decision they made to build the practice and their life together in La Farge.

After saving their money, the DeLines bought 6 acres in the woods and built a four-bedroom, open concept home where they could see deer and monitor their four children.

DeLine never became a wealthy man, but the 1972 Coronet is long gone. One minivan, then a second helped the family ferry their four children into adulthood. Today he drives a red 2018 Prius.

The doctor turned 65 in September and hopes to keep practicing until 70.

The patients in La Farge, especially the Amish, have taught DeLine much about health care.

“We — the Amish and I — come at it from different insights,” he says, “but the end result is the same. We must do our best in every situation, but we cannot expect that all things will go the way we would wish. So, we must come to acceptance.”

Looking back, the doctor says that one critical decision paved the way for his practice in La Farge: His marriage to Ann.

A visiting German medical student once told Ann DeLine that she understood how the doctor could put in such long hours — "He loves medicine" — but could not fathom how the doctor's wife managed to cook, clean and raise four children.

To Ann, the explanation was simple. "You can work endlessly doing what you love to do," she says.

It would never have worked in La Farge had she been a different kind of woman, the doctor says, “one more interested in the finer things.

“Yet it is just this setting that has allowed it to become one of the most interesting practices I could ever have imagined.”