MIDDLEFIELD, Ohio (AP) - A doctor looking for genetic causes to health problems in a small Amish community has found them -- including three cases of a severe disorder previously found in only 40 people worldwide.
Another Amish family has four children with a condition so rare that researchers might end up naming it for them.
Dr. Heng Wang started in May as the first physician of the Das Deutsch Center for Special Needs Children, which serves both Amish and "English" children with disabilities and seeks genetic links.
The clinic has more than 50 patients.
In mostly rural Geauga County, between Cleveland and Youngstown, Amish represent about 12 percent of the population but nearly half the local cases of severe mental and physical retardation. Wang suspects genetics because Amish traditionally marry among themselves.
Wang is treating a young Middlefield Township boy for an inherited deficiency of an enzyme needed in the production of collagen, a protein essential for healthy skin, bones and tendons.
Those with the disorder have frequent infections and open sores on the face and extremities.
The boy's sister died at age 2 in 1998 of the same disorder, called prolidase deficiency. Wang also has diagnosed a third case.
Patient names and ages were not released.
"I suspect that we have even more in this community than three," he told The (Willoughby) News-Herald.
Wang is using vitamin supplements, including manganese and Vitamin C, to help the boy's symptoms.
A child with the disorder has inherited chromosomes with the same mutation from both parents. Its prevalence is unknown, but about 40 cases have been reported, according to Orphanet, an Internet database on rare diseases sponsored by the French government. There is no known effective treatment.
Wang, who makes house calls, has said one doctor immersing himself in the community and in a patient's complicated array of problems can avoid the repeat tests that can occur if different doctors are treating separate aspects of a child's condition.
Researchers in London, England, now are working with Wang on a genetic profile of an Amish family from Burton Township. The study, called "Windows of Hope", previously had profiled another Amish family to pinpoint the mutations behind a neuromuscular disorder that makes the legs stiffen.
Wang says he suspects a genetic cause behind the limited muscle control in the four children of farmer Mark Kauffmann and his wife, Esther. The couple must help the children with nearly every basic need.
"Hopefully, they'll be able to tell which gene, which chromosome area," Wang said. "We can do more study to see if we can do intervention."
If no known diagnosis fits, the disorder might be named for the family, Wang said.