Tue, May 22, 2007 - Page 16 News List

Look to the light

Crigler-Najjar syndrome is just one of many rare and little-studied genetic disorders that wreaks havoc in the communities where it occurs

AP , EAST EARL, PENNSYLVANIA

"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.

Hope against hope

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 1.8m-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.

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