LINKING AN AMISH HEREDITARY DISEASE WITH CEREBRAL
PALSY, A PEDIATRICIAN CHALLENGES
A Dark Inheritance
BY THOMAS ULRICH
t is fall in Pennsylvania's Lancaster County, and Jacob
Stoltzfoos is working his field much the way his forebears did
three centuries ago--tugging at the yoke of a Belgian draft
mule. The only sounds he hears are the snap of a rein across the
mule's hindquarters, the simple mechanical whirl of his
corn-harvesting machine and the creak of his oak-plank wagon as
he hauls another stack of feed corn to his son-in-law's silo.
Like their ancestors, Jacob and his kin light their farmhouses
with gas lanterns and drive carriage horses--never
automobiles--back and forth to town.
Jacob and his family are Old Order Amish. They belong to a
community that lives at the edge of American society, with
spiritual values rooted in Pennsylvania-Deutsch soil. Most of
the 20,000 Old Order Amish living in Lancaster County are
descended from the 200 German-Swiss farmers who immigrated there
during the 18th century. The community has paid a price for its
separateness: because the Amish forbid marriage outside the Old
Order, centuries of inbreeding have afflicted them with certain
genetic diseases that strike their young in alarming numbers.
"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 times worldwide--and not
once in Lancaster County.
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