Word: amish
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Dates: during 1990-1999
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...Twelve disorders that I see here are founder-gene defects carried by the dozen families that established this population 300 years ago," observes Dr. D. Holmes Morton, 47, a pediatrician and geneticist who gave up an academic career to work among the Amish. One of those diseases, he has discovered, is glutaric aciduria, a metabolic deficiency that usually strikes children between the ages of 6 months and 5 years. Often triggered by childhood illnesses such as chickenpox or strep throat, it can cause permanent brain injury that can lead to chronic disability, medical complications and even early death...
Morton's introduction to glutaric aciduria and the Amish came one night in 1987 while he was on duty in the clinical laboratory at Children's Hospital of Philadelphia. A fellow physician, Dr. Charles Nichter, asked him to analyze the urine sample of an Amish child, Danny Lapp, from Lancaster County. At the time, Danny was alert but had no control over his arms or legs--signs of cerebral palsy, which was Nichter's medical specialty. Morton's testing revealed a metabolic fingerprint that could be caused only by glutaric aciduria, a disorder that had previously been reported only eight...
...fact, it was not the first case, nor would it be the last, from Amish country. Curious about the nature and cause of Danny's cerebral palsy, Morton decided to visit him at the Lapps' home near Leola, Pa. Danny, who was six at the time, sat strapped to a wheelchair, his legs flailing, while his parents, John and Ida, told Morton about many Amish parents who had endured similar heartbreaks. Five years after Morton's first visit, Danny Lapp died of the disease...
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...
...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...