It was every parent’s nightmare: a few days before Christmas 1999, Elizabeth and Samuel Glick, Old Order Amish dairy farmers in rural Dornsife, Pennsylvania, an hour’s drive north of Harrisburg, found their youngest child, 4-month-old Sara Lynn, gravely ill. They rushed her to a local hospital, from where she was soon transferred to the larger Geisinger Medical Center in the next county. There, a doctor noted a hemorrhage in her right eye and extensive bruising on her body, and suspected that her injuries were caused by child abuse.
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Alerted to the doctor’s suspicion, the police and officials from the Northumberland County Children and Youth Services descended on the Glicks’ farm during the evening milking, and took away the couple’s seven other children, all boys, ranging in age from 5 to 15. The boys were separated and placed in non-Amish foster homes. Sara died the next day, and when the county coroner found blood in her brain, he declared her death a homicide.
At Sara’s funeral, on Christmas Eve, Elizabeth and Samuel were not permitted to speak privately with their sons. By that time Samuel had already contacted the Clinic for Special Children in Lancaster County, and pleaded with its director, pediatrician D. Holmes Morton—the world’s leading authority on genetic-based diseases of the Amish and Mennonite peoples—to find the cause of his daughter’s death.
The Amish are Anabaptists, Protestants whose forefathers were invited by William Penn himself to settle in Pennsylvania. Today there are almost 200,000 Amish in the United States, of whom 25,000 live in Lancaster County, in southeastern Pennsylvania between Philadelphia and Harrisburg. Some of their customs and religious values have changed little over the past century.
Most people know that the Amish wear conservative clothing, travel mainly by horse and buggy, eschew most modern technologies, and refuse to use electricity from the common grid. The Amish also remove their children from formal schooling after the eighth grade, do not participate in Social Security or Medicare, and in many other ways maintain their sect’s separateness from mainstream America.
But most people don’t know that the Amish, and their spiritual cousins the Mennonites, experience an inordinately high incidence of certain genetic-based diseases, most of which affect very young children. Many of these afflictions are fatal or disabling, but some, if diagnosed and properly treated in time, can be managed, enabling the children to survive and lead productive lives.
That possibility—of proper diagnosis and intervention to save children’s lives—was what intrigued Morton, then a recently minted M.D. on a postdoctoral fellowship. A colleague at Children’s Hospital in Philadelphia asked him one evening in 1988 to analyze a urine sample from a 6-year-old Amish boy, Danny Lapp, who was mentally alert but wheelchair-bound because he had no control over his limbs—perhaps from cerebral palsy.
But when Morton analyzed the urine, he saw no evidence of cerebral palsy. Rather, in a diagnosis that must have seemed to others like the amazing deductions of Sherlock Holmes, he recognized the footprint of a genetic-based disease so rare that it had been identified in only eight cases in the world, none of them in Lancaster County. Morton’s was an educated guess: he was able to recognize the disease, a metabolic disorder known as glutaric aciduria type 1, or GA-1, because it fit the pattern of diseases he had been studying for almost four years, those that lay dormant in a child’s body until triggered into action.
Typically, a child with GA-1 shows no sign of the disorder until he or she comes down with an ordinary childhood respiratory infection. Then, perhaps prompted by the body’s immune response, the GA-1 flares up, making the child unable to properly metabolize protein-building amino acids, which in turn causes a buildup in the brain of glutarate, a toxic chemical compound that affects the basal ganglia, the part of the brain that controls the tone and position of the limbs. The result, permanent paralysis of the arms and legs, can resemble cerebral palsy.
Sensing that there might be other GA-1 children in the deeply inbred Amish community—some of them, perhaps, treatable—Morton visited Danny Lapp and his family at their Lancaster County home. Indeed, the Lapps told him of other Amish families with similarly disabled children. “The Amish called them ‘God’s special children,’ and said they had been sent by God to teach us how to love,” says Morton. “That idea deeply affected me.”
In the following months, Morton and his fellowship supervisor, Dr. Richard I. Kelley of Johns Hopkins University, visited the other families with afflicted children and collected from them enough urine and blood samples to identify a cluster of GA-1 cases among the Amish. “We very quickly were able to add to the world’s knowledge base about GA-1,” Richard Kelley recalls. “For a geneticist, that’s exciting.”