Research Clinic for Ills That Haunt the Amish

Source: New York Times

URTON, Ohio, June 13 "We've been waiting 16 years for an answer," said Mark Kauffman, an Amish farmer whose four profoundly handicapped children thrashed spasmodically in wheelchairs and a crib before the watchful gaze of the visiting physician.

As Dr. Heng Wang tended to his helpless patients, their mother, Esther Kauffman, hovered lovingly, translating the sudden cackle of one son as a cry of joy at the visit.
"We've gone through so many things that at this point we don't let our hopes get too high," the mother said, looking to the doctor.

Dr. Wang's frequent house calls to the Kauffman farm's gravely incapacitated children are a singular moment in the quiet history of the Old Order Amish here in northeast Ohio.

Dr. Wang is the director of a new research clinic that the Amish have organized to deal with hereditary disorders that haunt children in Amish and Mennonite communities, often with fatal results.

Inspired by recent medical breakthroughs pioneered among Mennonite and Amish children in Pennsylvania, the new Deutsch Center for Special Needs Children in nearby Middlefield does not yet have a permanent home, but Dr. Wang is already making house calls.

"We have no time to lose," Dr. Wang said amid farmland visits that will eventually take in at least 250 children identified as suffering mental and physical handicaps among a population of 45,000 Amish.

The Amish are 12 percent of the local population, but their children represent close to half of the area's most severe cases of mental and physical retardation. The nonprofit Deutsch center will specialize in deciphering and treating dozens of obscure genetic and biochemical disorders the children suffer. Many of these are still unnamed but are considered the result of the "founder effect" a reference to genetic disorders that become unusually common in an insular population descended, like the Amish, from a small group of progenitors.

For years, affected Amish children who seemed healthy at birth soon suffered brain damage and other forms of retardation. But the Amish here are intent on using innovations proven at the Amish Clinic for Special Children in Lancaster County, Pa.
A classic brain disorder known as maple syrup disease (because of the sweet odor of a victim's urine) went untreated 20 years ago as a mystery scourge of the Amish. But now, traced to an enzyme deficiency, it can be controlled like diabetes, Dr. Holmes Morton, medical director of the Lancaster clinic, said.

Similarly, a devastating disorder called glutaric aciduria was traced to an amino acid problem, with a treatment devised to reduce the risk of brain damage.

The causes vary, but the Lancaster treatments emphasize that common childhood disorders like strep throat can trigger hidden genetic problems a liver enzyme deficiency, for example, that can ruin an infant with brain-damaging toxins.

"It may be too late for us," Mr. Kauffman said, gazing upon his children who suffer from probably irreversible damage. The eldest, Nancy, 16, cannot see or feed or dress herself or respond to communication.

"But if we can help others with this center, we'll gladly do that," he said as Dr. Wang examined Nancy; Daniel, 14; David, 11; and Andrew, 5.

As Dr. Wang worked, the four lolled involuntarily, vocalized wildly and suffered seizures. Their slender, crabbed physiques made them look half their ages. Previous doctors had ruled out genetic problems, said the Kauffmans, who began investigating the special-clinic approach after Andrew was born.

Mr. Kauffman, 40, farms and makes furniture to support his family. Like other Amish, he believes in quiet personal charity for problems but not in medical insurance or government aid.

Described by a friend as a painfully taciturn man, Mr. Kauffman nevertheless came forward to help found the center on behalf of what he always calls "the blessings" his children and those of other Amish as well as non-Amish groups with comparable metabolic and genetic disorders in other parts of the world that the Lancaster clinic also has been treating.

This area's 72 Amish district bishops blessed the appeal to modern science as in tune with their practical traditions. In the last two years, they raised $700,000 from the faithful farmers and factory workers toward the $1.8-million center.

Traditionally, the Plain People Amish and Mennonite descendants of 18th-century German and Swiss Anabaptists have shunned many modern inventions and married among themselves to protect their faith-driven way of life. The Amish, like other close ethnic groups around the world, have high rates of inherited disorders because of the emergence of recessive genes passed through generations. Distantly related members marry and increase the odds of being unknowing carriers of the disorders.

"What's so terrifying about this is the apparent increase of frequency," said Tom Stone, the president of Das Deutsch board of directors, describing the community's growing awareness of how recessive genes strike.

"Even if a family doesn't have affected children," said Dr. Stone, a non-Amish school principal who is the area's expert in special education needs, "they don't know what may be in store for the grandchildren."

Research on the Kauffmans showed that the father's generation of family members includes two cases of founder effect disorders, while the grandparents' generation has only one. But the newest generation has 9 out of 21 who are handicapped, including Mark and Esther's brood, who require care for every basic need. Apparently normal at birth, the children degenerated quickly in the first year, with some sort of toxic syndrome suspected.

Dr. Wang's program, focused in Holmes and Geauga Counties, is modeled on Dr. Morton's clinic in Strasburg, Pa., the first center for Amish founder effect disorders, created in 1989.

"He is my mentor," said Dr. Wang, a 39-year-old pediatrician and biochemist who spent time with Dr. Morton studying his techniques.
Dr. Morton has weeded through separate disorders and devised special diagnostic and treatment programs. These emphasize family education, infant screening and high alert to routine sicknesses.

"Dr. Morton has identified more than 80 genetic disorders," Dr. Wang said.

"About one-third of the diseases, if diagnosed early, are treatable and can lead these kids close to normal lives," he said, emphasizing tireless scrutiny in the first weeks of life is crucial in preventing brain damage and death.

Dr. Morton, whose clinic treats close to 600 children, said early diagnosis would head off significant damage in a majority of cases. About one in five with genetic syndromes remain untreatable, he said.

"But 75 percent are treatable," he said, "and of those, one-third are highly treatable."

"It's very instructive to take care of these children," Dr. Morton said. "They become your teachers."

The two clinics will not necessarily be similar in their caseloads' genetic tracings. Although 200 Amish settled in this area in about 1880, the 20,000 Amish and Mennonites now in the Lancaster area served by Dr. Morton had different origins, founded by 12 families 300 years ago.

The Amish here have received support from the Cleveland Foundation, University Hospitals and the John and Sue Turben Foundation.

Caroline S. Morton, the executive director of the Pennsylvania clinic, said the general public might not know that the Amish had participated in modern genetic studies since the 1950's. Beyond Mennonites and Amish, children from as far as Asia and Africa make up about 15 percent of the clinic's caseload.

"We follow kids all over the world," Mrs. Morton, the wife of the medical director, said.
That is a clear comfort for Mr. Kauffman as he serves on the new center's board and must concede that a cure will probably elude his children.

"If anything good comes out of all this," he said as Dr. Wang headed out on his rounds, "we need to give God all honor."