A DARK INHERITANCE

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Recognizing that the Old Order Amish and Mennonites (who suffer from a similar genetic disorder called maple syrup urine disease) could not reach major medical centers if their children became ill--particularly since the condition often deteriorates in a matter of hours--Morton and his wife Caroline decided to build a clinic in Lancaster County. Lacking government, university or foundation support, they applied for a second mortgage on their home in St. Davids, Pa., to raise money for lab equipment. Their chief need was for a mass spectrometer that, together with a gas chromatograph and a computer workstation, would provide the technical means to diagnose and record cases. Having read about Morton's work in the Wall Street Journal, Hewlett-Packard co-founder David Packard donated all three machines, and within three months the Mortons were screening Amish newborns.

Grateful that Morton had diagnosed a granddaughter's illness during his early visits to Lancaster County, Jacob and Naomi Stoltzfoos sold the Mortons, at half market value, 2 1/2 acres of land as a site for the clinic. Two Mennonite congregations contributed a liquid chromatograph for analyzing blood samples of children who might suffer from maple syrup urine disease.

One blustery November afternoon in 1990, 12 Amish carpenters and 55 Amish and Mennonite farmers raised the Clinic for Special Children. Wielding sledgehammers, Douglas fir timbers and stout oak pegs, they framed the post-and-beam building by the end of the day. "Now when Jake's mules turn at the end of a row," says Morton, "he often looks to see if I am at my laboratory window. He has grandchildren with the disease I'm studying, and we both hope they can live to work in the field."

"When Dr. Morton told us that our daughter Barbie Ann had glutaric aciduria, John and I thought he had made a mistake," says Lydia Stoltzfoos, daughter-in-law of Jacob and Naomi. But Barbie Ann soon developed a fever, and Morton admitted her to Lancaster General. Stressed by infection, a child with glutaric aciduria does not metabolize certain amino acids normally. The resulting buildup of glutarate attacks the nervous system and damages the basal ganglia, a part of the brain that controls body movement. Once brain injury occurs, a child never recovers. "If it weren't for Dr. Morton and the clinic," Lydia says, "Barbie Ann would have ended up like many of Amos and Suzie Miller's children. Five of them died or are paralyzed because of this disease."

Over the years, Morton has traced each family's genetic heritage through 14 generations. He has determined a carrier frequency for the disorder among the Amish of about 1 in 10 people. Working with Dr. Richard Kelley, a pediatrician, Morton diagnosed glutaric aciduria in 16 other Amish children. The doctors' studies predicted that 50 more children born in the next generation would inherit the two copies of the defective gene needed to cause the disorder. According to the statistics, without treatment nearly all would be disabled, and 12 of them would die before age 5. "Glutaric aciduria is a treatable disease, so we need to know who is at risk during the first few days of life," says Morton.