Twenty in Rural Pennsylvania Have Rare Disease
By HELEN O'NEILL
AP
EAST EARL, Pa. (May 20) - Across the moonless dark of Lancaster County, where horse-drawn buggies clatter along country roads and many families shun electricity, a strange blue light cuts harshly through the night.
Over the cornfields it beckons, beaming from the bedroom window of a 100-year-old Mennonite farmhouse.
Downstairs, flaxen-haired girls read to younger children ... a mother in a traditional long dress and white cap rocks a slumbering child ... a father returning from the fields pulls up a chair to the coal-fired stove.
The scene is bathed in the glow of a single gas lamp.
Upstairs, a baby sleeps in another kind of light, in a very different world.
High-intensity blue electric rays burn down upon his crib, creating an iridescent haze that envelops the room. The lights are suspended from a heavy stainless steel canopy just inches above the child.
The baby wears only a diaper and has no blankets. Mirrors are built into one side of the crib. Fans hum loudly to keep him cool.
With his chubby cheeks and bleached blond hair, 15-month old Bryan Martin looks like an angel in his luminous cocoon.
But Bryan is a very sick child.
The whites of his eyes are yellow and his skin is an unnatural gold.
The blue lights are saving his life.
In the lush, green pastures of Pennsylvania Dutch country, where life revolves around the one-room schoolhouse, the farm and the church, and locals speak a distinctive German dialect, the strange blue lights beam from a handful of homes.
To the Amish and Mennonites they mean one thing - the presence of an extraordinarily rare disease that forces afflicted children to spend 10 to 12 hours a day, undressed, under lights.
The children suffer from a genetic disorder that causes high levels of a toxin called bilirubin to build up in their bodies, resulting in severe jaundice that, if untreated, causes brain damage and death.
Bilirubin is normally broken down by an enzyme in the liver. If the enzyme is missing, bilirubin can be checked only by the wavelengths of blue lights.
The disease is Crigler-Najjar syndrome, named for two doctors who identified it 55 years ago. There are about 110 known cases of Crigler's worldwide. About 20 are among the Amish and Mennonites in Pennsylvania.
There is no cure; Bryan's only hope of long-term survival is a liver transplant.
Nothing prepared Katie Martin for the news that her firstborn, Derick, had Crigler's. Several years earlier, a nephew had died of the disease at age 3.
"I thought it was a death sentence," she said.
In the past, it usually was. But in 1990 a new clinic had just opened in Strasburg specializing in children with rare diseases. There, the Martins met a doctor who had once studied with Dr. John Crigler, who first described the disease with Dr. Victor Najjar in 1952. The doctor told them to bring the baby for blood tests every month. And to keep him under blue lights.
So the Martins - who are unrelated to Bryan Martin - took Derick back to their 140-acre dairy farm in Mifflinberg and embarked on a life of testing, monitoring and lights.
Floyd fashioned a stainless steel-framed canopy to hold the lights over his son's bed. When his next child, Amy, was born, he made another set of lights. When their three cousins across the hill were stricken, he made more.
Today, Floyd Martin's blue-light beds, which cost about $1,000, are sought by Crigler families all over the world.
The Martins, old-order Mennonites, have electricity and a phone, but there is no computer, television or radio in their house. They travel by horse and buggy, except for emergencies when they hire a driver.
"The hardest thing," says Katie Martin, 37, "was to hear them cry on cold winter nights and not just be able to wrap them in a blanket or curl up in our bed."
Today, Derick, 17, and Amy, 15, radiate health. Still, their mother eyes them nervously.
For years she has worried about bilirubin levels. She has cajoled her children back under the lights on the nights they crawled out, complaining about the heat. She has nursed them through gallbladder operations, and other side effects of Crigler's.
Now she has another worry: liver rejection. Both children have had transplants in the past three years and Amy's recovery was complicated, requiring months of hospitalization.
And yet, Martin knew her daughter had no choice. Bilirubin builds up dangerously in adolescence. And the psychological toll can be devastating.
For years, Martin received sad, lonely letters from a woman in England who survived Crigler's into adulthood. At the age of 30, she smashed her bed of lights. The disease killed her within a few weeks.
Martin tells this story to panicked parents who call from around the world when they have a yellow baby and they don't know where to turn.
And she tells them, "Go to Dr. Morton. He can save your child."
With his thinning hair, walrus mustache and bow-tie, Holmes Morton looks every inch the genial country doctor. But the 56-year-old, Harvard-trained pediatrician is far more. In 1989 he gave up a promising academic career to build his Clinic for Special Children, believing that the only way to understand rare diseases was to live in the communities where they occurred.
Here, in a traditional post-and-beam building surrounded by fields, some of the world's rarest diseases are identified. Children who would never have survived in the past are treated with special formulas tailored to their needs. And because the local community helps pay for the nonprofit clinic through annual auctions, costs are far less than at a regular doctor's office.
Geneticists have long studied the Amish and Mennonites, descendants of Swiss and German Anabaptists who settled in Pennsylvania in the 1700s. Forbidden to marry outside their religion, they have a relatively high risk of being carriers of a rare disease.
But research generally takes place in university laboratories, far from actual patients and their illnesses.
At the Clinic for Special Children, a scientist studies a mass spectrometer in one room, while across the corridor an Amish family clusters around Morton to discuss their sick child. Heirloom quilts decorate the walls. A horse and buggy is tethered to a hitching post outside.
And new genes are being identified all the time.
"The real frontier of genetic medicine is in the everyday practice," Morton says. "These children need treatment, not just research."
Morton is speaking not just of Crigler-Najjar syndrome, but of the many other rare disorders seen in the clinic. Maple syrup urine disease. Glutari aciduria. Pigeon breast disease. Pretzel syndrome.
Many be fatal if undetected. Like Crigler's, many are so unusual they are simply not recognized by general pediatricians.
"God sent Dr. Morton to us," says Norman Burkholder, after leaving his mules and plow one day to bring in his sick 9-year-old son. The child has maple syrup urine disease, a rare enzyme deficiency that causes his urine to smell like maple syrup.
Later the boy will be admitted to Lancaster General Hospital where he will spend days on a special formula prepared by Morton's clinic.
If he had not been properly diagnosed, he could have slipped into a coma and died.
When Crigler first identified the disease in 1952, the sick babies he tested all died. Patients began living longer in the 1970s when doctors realized the effectiveness of blue lights.
For a brief time, in the late 1990s, a cure seemed imminent. Experiments in rats suggested that chimeraplasty, a form of gene therapy, could also succeed in humans.
At a conference of Crigler's families in July 1999 Morton announced that the first human trials would begin that fall.
"We thought that soon we would get rid of the blue lights forever," Katie Martin said.
Two months later an 18-year-old Arizonan named Jesse Gelsinger died during an unrelated gene-therapy trial at the University of Pennsylvania. Funding for human trials dried up.
So did hope for Derick and Amy Martin.
Liver transplants are expensive and invasive and bring their own share of heartache and fear. Rejection can be especially hard for teenagers like Amy, craving normality after years of sickness.
Amy hated the lights, hated having to sleep without a blanket, hated the flies that crawled under the glass. Most of all she hated her eyes.
When she woke up after her transplant, she begged for a mirror.
Carefully, she scanned the whites for any trace of yellow.
"Wow," she thought. "They're so blue."
And then she thought, "I'm not a Crigler's child anymore."
Amy's uncle, John Martin, has witnessed her trials even as he contemplate three transplants in his own family.
John is Katie Martin's brother. His three eldest children, Dawn 12, Eric, 9 and Joyce, 8, have Crigler's.
At their Mifflinburg farmhouse, Martin has fixed up one of Floyd Martin's inventions in the living room - a 6-foot-high box of blue lights and mirrors with a door that the children climb into after school. He has taken them on vacation to Florida, to a family with a Crigler's child who let them borrow blue lights.
But the 33-year-old father cannot escape the agony of having cursed his children with his genes.
The new baby, Joel, and 20-month-old Johnny, do not have Crigler's. When they were born, John says, it seemed like a miracle.
Now the family prays for another miracle - a cure.
Lying in bed on their stomachs, Dawn and Joyce chant their prayers in singsong unison. They are in their underwear, covered by a sheet. A stainless steel canopy of lights hangs above them.
Their father kisses them goodnight in the dark. He cannot bear to turn on the blue lights or pull off their cover while they are still awake.
Later, he will creep back into their room and press a switch.
Outside, from far across the fields, a strange blue light will beckon in the dark.
Copyright 2007 The Associated Press. The information contained in the AP news report may not be published, broadcast, rewritten or otherwise distributed without the prior written authority of The Associated Press. All active hyperlinks have been inserted by AOL.
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