Hopkins doctor fights genetic disorders in Amish country 'How good it is that he's here'

November 28, 1993|By Thomas W. Waldron | Thomas W. Waldron,Staff Writer

STRASBURG, PA — STRASBURG, Pa. -- It's nearing dusk in Pennsylvania Dutch country and Holmes Morton has come to make an unannounced house call on Henry Martin.

Dr. Morton pulls his green Jeep into the barnyard, scattering a dozen chickens near a hay wagon hitched to two draught horses.

Henry, a blue-eyed 22-month-old, runs to his father, Jesse Martin, who is talking to two of his brothers. The three men, who married three sisters, have almost identical faces and wear plain, dark fedoras.

"How is he?" Dr. Morton asks,still seated behind the wheel.

"The last two weeks he's been pretty good," responds Mr. Martin.

Dr. Morton, who holds an instructorship in pediatrics at the Johns Hopkins University School of Medicine, leaves the Jeep and hoists Henry onto the hood for a quick exam. He taps the boy's knee to check for abnormal reflexes that might be a sign of metabolic trouble brewing.

Henry's pregnant mother, Esther, begins teasing the boy, saying "shot" in German, a reminder of what a visit from the doctor usually brings.

Henry has a rare genetic disorder known as maple syrup urine disease, named for the distinctive smell of its victims' urine and earwax. Without strict attention, the disorder can lead quickly to brain damage or death.

Taking care of Henry is part of Dr. Morton's immersion into the sad underside of Amish life, beyond the black buggies and simpleclothes. Generations of inbreeding within small clans have left the Amish and the Mennonites with a staggeringly high rate of genetic disorder.

For Dr. Morton, Lancaster County is a living laboratory filled with some of the world's rarest metabolic diseases.

Many doctors have ventured into Amish country to research the genetic problems.

Dr. Morton opted to stay.

"Holmes is probably one of the few, if not the only, metabolist who has left a major academic center to set up a clinic and lab sort of in the boonies," says Dr. Matthew Warman, a geneticist at Children's Hospital in Boston. "What he's doing is very valuable and very important."

Lancaster County has some 75,000 Amish and Mennonites, devout Christians descended mostly from a small group of European settlers who arrived in the mid-18th century. The Amish, with a population of about 17,000, are the most conservative and still dress in traditional "plain" clothing and do without modern amenities such as electricity or phones. Many Mennonites have more modern lifestyles.

Dr. Morton has a unique approach, combining high-tech research work and intensive primary care of children. Not only does he make house calls, he draws blood and tests it himself in his Strasburg clinic.

An immediate response

When his computer provides test results, Dr. Morton can immediately respond with a modification of a child's diet or medicines to balance body chemistry.

In Henry's case, that means a half-hour drive through the dairy farms of Lancaster County.

The Martins, who are Mennonites, have no phone or car. The house call the other day was the doctor's idea: Henry had been sick a couple of weeks before and Dr. Morton wanted the family to try a new dietary supplement to alter the quantity of amino acids in his system.

"I'd be curious what his blood levels are," Dr. Morton says in his West Virginia drawl. "I wouldn't charge you for the test, if you want."

For Henry, such hands-on care is crucial. His affliction requires a carefully monitored, low-protein diet to control his metabolism. A minor illness, such as a cold or ear infection, can trigger problems by causing the body to poison itself with toxic levels of amino acids extracted from the muscles.

Over the past few years, Dr. Morton has identified 42 different genetic disorders in his patients.

Earlier this month, the clinic detected its 20th case of glutaric aciduria, another metabolic disorder. That compares to only eight cases reported worldwide in medical literature until Dr. Morton began his work in the mid-1980s.

The disease can cause neurological damage, which leads doctors to diagnose a child's problems as cerebral palsy, missing the underlying genetic cause, he says.

Before Holmes Morton set up shop in Lancaster County, parents who needed emergency care for children with hard-to-treat genetic diseases had to rush to a hospital in Philadelphia, two hours away.

Risks of waiting

Parents sometimes risked permanent injury, or death, by waiting for children to improve on their own.

Dr. Morton's accessibility has brought some normalcy to these families' lives.

In addition, their children have fewer disabilities and, much like diabetics, can expect to live to adulthood and remain relatively healthy with the proper care, he says.

The grateful parents nearly idolize Dr. Morton and his wife, Caroline, who oversees the clinic.

"It's just so much easier to run over there," says Brenda Wenger, the mother of two children with the maple syrup disorder, one born before the clinic was set up, one a newborn.

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