STRASBURG, Pa. -- It's nearing dusk in Pennsylvania Dutch country and Holmes Morton has come to make an unannounced house call on Henry Martin.
Dr. Morton pulls his green Jeep into the barnyard, scattering a dozen chickens near a hay wagon hitched to two draught horses.
Henry, a blue-eyed 22-month-old, runs to his father, Jesse Martin, who is talking to two of his brothers. The three men, who married three sisters, have almost identical faces and wear plain, dark fedoras.
"How is he?" Dr. Morton asks,still seated behind the wheel.
"The last two weeks he's been pretty good," responds Mr. Martin.
Dr. Morton, who holds an instructorship in pediatrics at the Johns Hopkins University School of Medicine, leaves the Jeep and hoists Henry onto the hood for a quick exam. He taps the boy's knee to check for abnormal reflexes that might be a sign of metabolic trouble brewing.
Henry's pregnant mother, Esther, begins teasing the boy, saying "shot" in German, a reminder of what a visit from the doctor usually brings.
Henry has a rare genetic disorder known as maple syrup urine disease, named for the distinctive smell of its victims' urine and earwax. Without strict attention, the disorder can lead quickly to brain damage or death.
Taking care of Henry is part of Dr. Morton's immersion into the sad underside of Amish life, beyond the black buggies and simpleclothes. Generations of inbreeding within small clans have left the Amish and the Mennonites with a staggeringly high rate of genetic disorder.
For Dr. Morton, Lancaster County is a living laboratory filled with some of the world's rarest metabolic diseases.
Many doctors have ventured into Amish country to research the genetic problems.
Dr. Morton opted to stay.
"Holmes is probably one of the few, if not the only, metabolist who has left a major academic center to set up a clinic and lab sort of in the boonies," says Dr. Matthew Warman, a geneticist at Children's Hospital in Boston. "What he's doing is very valuable and very important."
Lancaster County has some 75,000 Amish and Mennonites, devout Christians descended mostly from a small group of European settlers who arrived in the mid-18th century. The Amish, with a population of about 17,000, are the most conservative and still dress in traditional "plain" clothing and do without modern amenities such as electricity or phones. Many Mennonites have more modern lifestyles.
Dr. Morton has a unique approach, combining high-tech research work and intensive primary care of children. Not only does he make house calls, he draws blood and tests it himself in his Strasburg clinic.
An immediate response
When his computer provides test results, Dr. Morton can immediately respond with a modification of a child's diet or medicines to balance body chemistry.
In Henry's case, that means a half-hour drive through the dairy farms of Lancaster County.
The Martins, who are Mennonites, have no phone or car. The house call the other day was the doctor's idea: Henry had been sick a couple of weeks before and Dr. Morton wanted the family to try a new dietary supplement to alter the quantity of amino acids in his system.
"I'd be curious what his blood levels are," Dr. Morton says in his West Virginia drawl. "I wouldn't charge you for the test, if you want."
For Henry, such hands-on care is crucial. His affliction requires a carefully monitored, low-protein diet to control his metabolism. A minor illness, such as a cold or ear infection, can trigger problems by causing the body to poison itself with toxic levels of amino acids extracted from the muscles.
Over the past few years, Dr. Morton has identified 42 different genetic disorders in his patients.
Earlier this month, the clinic detected its 20th case of glutaric aciduria, another metabolic disorder. That compares to only eight cases reported worldwide in medical literature until Dr. Morton began his work in the mid-1980s.
The disease can cause neurological damage, which leads doctors to diagnose a child's problems as cerebral palsy, missing the underlying genetic cause, he says.
Before Holmes Morton set up shop in Lancaster County, parents who needed emergency care for children with hard-to-treat genetic diseases had to rush to a hospital in Philadelphia, two hours away.
Risks of waiting
Parents sometimes risked permanent injury, or death, by waiting for children to improve on their own.
Dr. Morton's accessibility has brought some normalcy to these families' lives.
In addition, their children have fewer disabilities and, much like diabetics, can expect to live to adulthood and remain relatively healthy with the proper care, he says.
The grateful parents nearly idolize Dr. Morton and his wife, Caroline, who oversees the clinic.
"It's just so much easier to run over there," says Brenda Wenger, the mother of two children with the maple syrup disorder, one born before the clinic was set up, one a newborn.
"The children's care is so much better. You can see it with the younger children," she says. "They're more normal, I guess you'd say.
"The parents feel he is a tool in God's hands."
Enos Hoover, who lost three children to maple syrup urine disease before the clinic opened, says, "I don't know if people realize how good it is that he's here."
Four years ago, Dr. Morton was living in Philadelphia and making rounds in a beat-up white Honda. He wanted to open a clinic in Lancaster County to provide proper attention to the "special" children, as they're called.
Only three people showed up when he held a get-acquainted meeting.
"Parents were a little bit reluctant to start," recalls Mrs. Wenger. "They didn't know for sure what he had in mind."
"They are suspicious of people who come in from the outside, and rightfully so," says Dr. Harvey L. Levy, a metabolic specialist in Boston and a longtime friend of Dr. Morton's. "Medical researchers have come in to do research on them and write fancy papers rather than provide good medical treatment for them."
In 1989, with no other funding in sight, the Mortons were preparing to take a second mortgage on their house outside Philadelphia to get the money to start the clinic.
"I felt like we had to demonstrate that we were serious about taking care of these children," Mrs. Morton says.
At the same time, a Wall Street Journal reporter wrote a sympathetic article about Dr. Morton.
Phone calls began pouring in at 6 a.m. the day it appeared. Within days, readers had pledged $250,000, including a single gift of $100,000 from an anonymous donor. The Mortons never signed the mortgage documents.
"It was the most incredible experience of generosity," says Mrs. Morton, a former Red Cross worker in Vietnam and rural education planner.
Dr. Morton began his practice in temporary quarters lent by Lancaster General Hospital and started gaining parents' trust. The more patients he saw, the more support he got.
Jacob Stoltzfoos, a farmer who has two grandchildren with a rare genetic disorder, offered 2 1/2 acres of his farm at half the assessed value.
More than 100 volunteers gathered on a rainy fall day in 1990 for a clinic-raising. Amish carpenters built the fir frame using traditional, no-nail construction.
Flooded with natural light, the three-story building has dormers and a small cupola. It sits in a cornfield on a gentle hill overlooking a trout-stocked stream. With its simple wood
furniture, the Clinic for Special Children feels like a house.
Quilts and wall-hangings sewn by the mothers of the clinic's patients line the walls. A quilt in one examining room features panels with the names of more than 50 of the clinic's patients. One panel with a red cardinal is for Silas Zimmerman, a Mennonite boy who comes from Kentucky to be treated for maple syrup urine disease.
Since the clinic opened in April 1991, support has continued to grow.
The community's third annual auction in September attracted some 5,000 people and raised $105,000 from the sale of everything from quilts and handmade wooden toys to pigs and hay.
The money is crucial, because the clinic, with a staff of four, earns only about 40 percent of its expenses from patients' fees. Dr. Morton keeps fees affordable for the Amish and Mennonites, who generally have no health insurance. He charges $45 for a sophisticated blood test he does in his own lab. At a hospital in Philadelphia, the test could cost 10 times that much. Contributions from the community paid for much of the expensive laboratory equipment he uses to keep track of his patients' metabolisms.
The Amish and the Mennonites grasp the economics, Dr. Morton says.
Many families have been devastated by bills for long stays at Philadelphia hospitals. Some have been forced to sell land or cattle.
"Two horse-and-buggy churches bought us this machine," he says, pointing to a $56,000 piece of equipment. "In less than a year, we've saved them that much. They understand that. They've never been insured."
Blunt with peers
At 43, Holmes Morton is self-confident. Colleagues say he can be blunt with other researchers, even overbearing.
"He has been known to embarrass people publicly," Dr. Levy says. "At times he's been a little bit tough. But generally speaking, he's right."
In a barnyard with a couple of farmers, the graduate of Harvard medical school moves at a country pace. The son of a coal miner, Dr. Morton delights in the details of rural life.
He'll shoot the breeze about the best place to plant walnut trees or the going price for chestnut logs.
A bushy, light-brown mustache doesn't hide a ready grin.
"I was sort of uneasy having a doctor come here to the house," recalls Enos Hoover of his first meeting with Dr. Morton. "But he just came in, sat down and made himself at home. He just has a way of taking up with people."
Two years ago, the Mortons moved their family to an old brick house in the heart of the small town of Strasburg, where stores sell shoofly pie and Amish-themed trinkets.
The Amish and Mennonites make them feel about as welcome as any "English," or outsiders, can. They've been invited to dinner, church services, weddings and funerals.
The Mortons have made a point of letting their three children get to know the clinics' patients so they can understand Dr. Morton's long hours away from home.
With some 50 regular clients who rely on him for routine and emergency care, Dr. Morton hasn't taken a real vacation in years.
The best the family has had lately was an overnight trip to Baltimorelast month when he was awarded the $10,000 Albert Schweitzer Prize for Humanitarianism in a ceremony at Hopkins.
Medical students and faculty occasionally come up from Hopkins to spend time in Dr. Morton's clinic.
Working with the midwives who serve Lancaster County, Dr. Morton now screens nearly every newborn in the Amish and Mennonite communities -- some 600 births a year.
The laws of genetics dictate that a certain number will have genetic problems.
"The only people they can marry in the group are cousins," Dr. Morton says. "That's why they have such a bad gene pool."
Perfecting the treatment
Dr. Morton has lost some eight or nine patients during his time in Lancaster County, and he's the first to acknowledge that he's still trying to perfect his treatment of these obscure conditions.
The other day, Dawn Hahn brought in her son Dustin for a checkup. A few days earlier, the 10-month-old had been in the clinic with an earache, a potentially fatal ailment for a boy with maple syrup urine disease. His body chemistry was so out of whack he had been toppling over.
During the follow-up visit, a playful Dustin seems back to normal. Dr. Morton draws blood, a sample he will test shortly after the boy leaves. For 30 minutes, he and Mrs. Hahn compare notes on Dustin's status, intently discussing how to adjust his diet to control his levels of three amino acids.
"I thought maybe I should have brought him in earlier because his leucine was so high," says Mrs. Hahn, who is a Mennonite.
"As you go along, you'll read them about as well as I can read them with the amino acid tests," the doctor responds. "You'll see in their eyes, in their activities."
As the two talk, Dustin buries his head on his mother's shoulder and makes little singsong noises.
"We're learning," she says.
"So am I."