Monday, May 21, 2007

Rare Diseases Get Treated In Amish Community

Blue Light Aids Ill Mennonite Children

But there is more to this story than what the headline suggests:

On a dewy spring morning in Strasburg, strains of Bach drift from a post-and-beam building on a hill overlooking an alfalfa field. Inside, rays of light wash down from rafters, silhouetting the doctor-musician as he cradles his cello.

For Holmes Morton, his daily dawn "concert" is a rare escape from the sadness of sick children and the desperation of parents who come to him for miracles.

There are no miracles, he tells them. For many rare diseases there are no cures.

To the families who travel from miles around, Morton's Clinic for Special Children is itself a miracle.

Here, on what was once an Amish farmer's field, in a building erected in traditional barn-raising fashion by 70 local men, some of the world's rarest diseases are identified. Children who would never have survived in the past are treated with special formulas and dietary regimens tailored solely 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, the Plain People, as they are known, 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, laboratory director Erik Puffenberger studies a mass spectrometer and DNA sequencing machine 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, as he bounces over hilly back roads in his silver Jetta, waving at bearded farmers and straw-hatted boys.

With his thinning hair, walrus mustache, starched white shirt and bow-tie, 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 pursue his vision of the clinic, believing that the only way to understand rare diseases was to live in the communities where they occurred. Today, the clinic, which is run by Morton's wife Caroline, treats about 600 Amish and Mennonite children. Morton's work is recognized around the world.

"These children living with the sword of Damocles," Morton says. "They 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 of the disorders can be fatal _ or cruelly disfiguring _ if undetected. Like Crigler's, many are so unusual they are simply not recognized by general pediatricians.

The clinic now recommends all Amish and Mennonite newborns be routinely screened for more than 35 genetic diseases. In 2004 it discovered a gene implicated in some cases of sudden infant death syndrome. It has established links between rare metabolic disorders like glutari aciduria and diseases that are more common in the general population, like cerebral palsy.

"God sent Dr. Morton to us," says Norman Burkholder, after leaving his mules and plow one day to bring in his 9-year-old son. The child is dizzy and coughing and he complains, in Pennsylvania Dutch, that his stomach hurts.

Later the boy will be admitted to Lancaster General Hospital where he will spend days on a special formula prepared by Morton's clinic. The child has maple syrup urine disease, a rare enzyme deficiency that causes his urine and ear wax to smell like maple syrup. If he had not been properly diagnosed and the formula had not been available, he could have slipped into a coma and died.

Like Crigler-Najjar, there is no cure. The boy will eventually need a liver transplant.

It is a fascinating article on rare diseases. I certainly recommend anyone in the medical community to become aware of it in case they may come across it in their practices.

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