Plain people, exotic illnesses

Pennsylvania’s Amish and Mennonite populations carry dozens of diseases nearly unknown anywhere else.
The Philadelphia Inquirer, Dec. 1, 2002
http://www.philly.com/
By Susan FitzGerald, Inquirer Staff Writer

MIFFLINBURG, Pa. – Bedtime comes early at the Martin farm, where life is still ordered by the rhythms of nature and the Old Order Mennonite faith. By dinnertime, with the cows milked and the animals fed, Amy, 10, and Derick, 12, are struggling to stay awake.

By 8 p.m., they are off to bed, soon fast asleep beneath rows of special four-foot fluorescent lights that bathe them all night in a purplish-blue glow.

The lights keep them alive.

Amy and Derick have a rare liver disease that causes a dangerous accumulation of a substance called bilirubin. It yellows their skin and the whites of their eyes and could kill them if too much builds up.

Each night they must sleep under special lights to break down the bilirubin and clear it from their systems. Without the lights, they could suffer brain damage and die.

The disease, Crigler-Najjar syndrome, is extremely rare – there are believed to be no more than 200 cases worldwide. But among the Mennonite and Amish communities, it’s all too familiar. Three of Amy and Derick’s cousins have it; so do 16 other Amish and Old Order Mennonite children in the area.

Crigler-Najjar is one of dozens of rare inherited disorders that run through the plain sects of Pennsylvania. A Lancaster doctor who cares for the families has counted 38 disorders in Amish children and 23 disorders among Mennonites that are found far less often in the general population.

Many of the disorders are metabolic, requiring special diets and medication. Others involve physical defects – one is marked by dwarfism and extra fingers or toes; another produces babies with very small heads.

For the Martins, the deadly liver malady affecting two of their four children has meant learning about a disease almost no one has heard of – and living every night with the lights.

“I don’t like it because sometimes it’s kind of hot,” says Amy, whose panel of eight long bulbs hangs just above her when she is stretched out in bed. In winter she cannot wear a nightgown or use covers because the light must shine directly on her skin.

Derick keeps a flyswatter next to his bed because of the insects drawn to the lights.

“They buzz and hop around,” he says. “If I get them, I make sure they’re dead.”

Often, Amy and Derick are awake before dawn, unable to sleep because of the lights.

“Amy didn’t sleep through the night until she was 7,” says Katie Martin, their mother.

It’s a strange nocturnal routine. But Katie and her husband, Floyd, have known nothing else since the yellow tinge of Derick’s skin at birth turned out to be far more serious than temporary newborn jaundice.

“Sometimes people ask if I just see yellow, because my eyes are yellow,” says Amy.

There’s a small wooden sign by the lane to the Clinic for Special Children, two miles from picturesque Strasburg, in Lancaster County. It’s easy to miss when driving by, past Amish farms with dark-colored clothes drying on lines and tobacco leaves hanging in the barns.

The clinic, a handsome building with cedar siding and a slate roof, sits on an Amish farm. It has a hitching post in the parking lot.

In this unlikely setting for cutting-edge medical research, Dr. D. Holmes Morton, 52, and his staff are treating and studying the unusual genetic diseases that turn up among the insular communities of the plain sects.

Most of the disorders follow a recessive pattern of inheritance, passed on by two parents who carry a genetic mutation and are themselves unaffected, but whose babies have a 1-in-4 chance of having the disease.

The Amish and Mennonites both sprang from Swiss-German Anabaptists who began migrating to Pennsylvania in the 1700s. Because most of the 20,000 modern-day Amish in Lancaster County are descended from a few dozen settlers, the resulting gene pool is not as diverse as the general population. The sects are relatively closed societies whose members tend to marry within the group, increasing the chances that two people with the same gene mutation for a certain disorder will get together and pass it along.

At the same time, certain genetic diseases relatively common in the general population, such as cystic fibrosis, are unknown among the plain sects.

Miriam Martin carried a plate of peanut butter cookies when she, her sister-in-law Katie Martin and their children piled out of a van in front of the clinic.

Twice a year, they bring their five children with Crigler-Najjar to the doctor, hiring a driver to take them.

The Mennonite families avoid modern conveniences such as TV and radio, and close to home they travel by buggy. Miriam and Katie’s families moved from Lancaster County to rural Union County in the late 1960s.

“We think the world of Dr. Morton,” says Katie Martin. “If it wasn’t for his help, we wouldn’t be here.”

For the children, the trips to the doctor’s clinic are a chance to see the outside world and get a day off from studies at their one-room schoolhouse. Three-year-old Joyce, Miriam’s youngest, was especially excited. “Are we going to see Dr. Morton now?” she kept asking. Eric, 5, suggested bringing the cookies.

The families had left home around 6 a.m., stopping first at a medical center in Lancaster for ultrasounds on Eric and Joyce. Children with Crigler-Najjar develop gallstones, and Morton is watching for problems. The youngsters’ sister, Dawn, 7, had her gallbladder removed when she was 3; so did cousins Derick and Amy.

Their next stop was an Amish farm to deliver a set of lights. Three of that family’s six children have Crigler-Najjar, and they use electricity only in the children’s bedroom, to run the lights. Katie’s husband, Floyd, who runs a 150-acre dairy farm, now also has a business constructing bilirubin lights.

It was the first trip to the clinic since April for the Martins, and nurse practitioner Donna Robinson made sure to greet them wearing an embroidered sweatshirt given to her by Miriam. She ushered the children into an examining room with Amish quilts on the wall, and began to draw their blood to check their bilirubin levels.

Bilirubin is produced by the breakdown of worn-out red blood cells. Normally a liver enzyme clears bilirubin from the body, but with Crigler-Najjar, a genetic defect causes the enzyme to be missing or scant.

High levels of bilirubin are toxic to the nervous system, causing strokelike injuries.

Ten to 12 hours each day under bilirubin lights, as well as exposure to sunlight, keep levels down, but a simple cold or ear infection or an injury can send levels soaring.

“It’s remarkable how well they can be, but how quickly they can die,” Morton said.

Elevated bilirubin also affects muscle cells, causing fatigue.

Like many mothers intent on saving their children, Katie and Miriam have become experts on Crigler-Najjar. Katie published a book, God’s Golden Children, filled with families’ stories, including that of a nephew who died at age 3.

The usual approach to Crigler-Najjar is to treat with lights and pills and vitamins that cost about $500 a month, then do a liver transplant by about age 5. As children grow, bilirubin lights are less effective.

A new liver produces the enzyme needed to rid bilirubin, but transplants also carry risks: The body may reject the new organ, and drugs used to ward off rejection can be brutal.

Morton encourages families to stick with the light therapy as long as possible, hoping for an alternative to transplant.

“We have more confidence we can keep the kids healthy for an indeterminate period of time,” he says. “I never felt there’s a great urgency in rushing them off to transplant, but you worry about one of those injuries.”

Several years ago, it seemed gene therapy might be used to treat Crigler-Najjar. Morton hosted a scientific conference, which Miriam and Katie attended, and they came away with great hope. But the field of gene therapy is moving slowly.

“Since the last meeting, I have to say I haven’t seen any progress in any direction to give you encouragement,” Morton told Katie and Miriam, who settled in for a chat while the children played.

The mothers know their children will ultimately want a normal life; how can they grow up and marry and still sleep under the lights?

Morton said it may be time to start considering a transplant for Derick, soon to be a teen.

“I think whenever he is ready and says ‘I’m sick of this,’ ” Katie said. “I think Amy will want it before Derick. She’s sick of all these pills. She’s sick of all these lights. She wants to wear nighties. She wants a blanket.”

Holmes Morton, a Harvard-trained pediatrician, came by chance to caring for those whom the Amish and Mennonites refer to as “special children.” He was doing a fellowship in biochemical genetics at Children’s Hospital of Philadelphia in 1988 when the lab received a urine sample from a child with a rare metabolic disease called glutaric aciduria, which can cause sudden brain damage and death.

Morton drove to Lancaster to see the family members, who were Amish, and they told him of other children with the disease.

Morton spent the summer traveling from farm to farm, meeting with families. He became convinced of the need for treatment for children with disorders unfamiliar to general practitioners. Early diagnosis and treatment could prevent disabilities and even death.

The Clinic for Special Children was built in 1990, its frame raised in a day, in the style of an Amish barn-raising. Morton’s wife, Caroline, oversees the business, which operates as a nonprofit foundation.

Morton collaborates with scientists worldwide, including those at the National Human Genome Research Institute in Bethesda, Md. His work with the families here has helped lead to four gene discoveries.

Morton said he has also learned a lesson from the families who come to him.

“They have a very accepting and different attitude about what it means to have a child with a genetic disease,” he said. “Even kids with a lethal disease are seen to have a special purpose in this society.”

The light is falling fast at the Martin farm, nestled in the Buffalo Valley of Union County.

Katie had received a phone call from Morton’s clinic in the morning – the children’s bilirubin levels were fine.

Derick pulls on his jacket and knit cap and heads for the barn to feed the cows and help with the 5 p.m. milking. It’s Amy’s job to feed the horse, two ponies and 11 cats in the barn.

Soon, the nighttime routine will begin again. Amy uses a timer to turn on her lights so that she can relish the darkness as she falls asleep. Derick switches on his lights when he climbs into bed.

“In the morning when they get up, they’re bleached,” Katie says, a sign their bilirubin levels are lower. “They look like they were bleached – they’re a lot brighter.”

Down the road, Miriam Martin is closing out the day, too.

Joyce is first to bed, her body illuminated by the lights above her crib. Eric and Dawn sleep in the room with her, each with their own lights. A purple-blue haze engulfs the room.

“As much as they hate the lights, I tell them, ‘It keeps you alive,’ ” Miriam says.

When pregnant with Joyce, Miriam and her husband, John, were certain their baby would be healthy. They already had two with Crigler-Najjar and thought they had more than met the 1-in-4 odds of having an afflicted child.

“It was really hard when we had Joyce and had the third,” Miriam says. “I said it couldn’t be. God made a mistake. But people told me, ‘God doesn’t make mistakes.’ And I know now that it’s true.”

Miriam’s voice grows softer, careful not to wake Joyce.

“I say, ‘God, take care of my children and see us through another day.’ ”

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