Baby with Rare Crigler-Najjar Syndrome Finds Relief with Blue Lights

For Nina Lowry, though, the yellow cast to her skin and the whites of her eyes lingered for months.

Five times, her parents took the blue-eyed baby from their apartment at Joint Base Langley-Eustis, where her father is an Army musician, to Children’s Hospital of The King’s Daughters in Norfolk so she could lie under special lights that broke down a toxin called bilirubin in her bloodstream.

Tests finally led to a diagnosis of Crigler-Najjar syndrome, a genetic disorder so rare only one in a million newborns worldwide have. Nina’s was the first case the doctor who treated her had ever seen.

An enzyme responsible for breaking down bilirubin doesn’t work properly, and the buildup of the toxin can eventually lead to brain damage and death.

A liver transplant is the only cure, a step usually taken when children are older.

The treatment until then is deceptively simple: light. Not just any light, but special blue phototherapy lights that break down the bilirubin. Nina, now eight months old, needs to sleep beneath them all night wearing only a diaper.

And that’s where Yana and Thomas Lowry ran into a problem. Because their daughter’s condition is so rare, phototherapy lights for home use are hard to come by.

They first asked if the hospital could lend them a set, but liability issues prevented that. They checked with medical device companies, but nothing affordable had been developed to fit Nina’s needs.

In August, after Nina’s fifth hospital visit to lie under phototherapy lights, Candace Dunleavy, a Care Connection coordinator at CHKD, began a search for the blue lights that would keep Nina alive.

Her phone calls and internet research led to both sides of the country: in one direction, a 75-year-old biochemist at Stanford University in California. And on the eastern side of the country, a dairy farmer in the heart of Pennsylvania Dutch country.

Dunleavy discovered that the rare disease is more common in the Mennonite and Amish community of Lancaster County, PA.

Since most of the community descended from the same settlers and they tend to marry within the same group, its gene pool is less diverse than that of the general population. So there’s a greater chance for two people with recessive genes to have children with genetic disorders.

So much so that a doctor started the Clinic for Special Children there in 1990, built by the community’s men in traditional barn-raising style, to do research and treat Crigler-Najjar and other genetic disorders.

Dunleavy called to ask about phototherapy lights and was pointed to Katie and Floyd Martin, who live on a dairy farm near the clinic. The Mennonite couple’s first son, Derick, had the yellow hue to his skin and eyes when they brought him home from the hospital in 1990.

At five weeks old, he was diagnosed with Crigler-Najjar, named after the doctors who first described the syndrome in 1952. A nephew of the Martins had died several years earlier of the disease when he was three, so they knew its severity. They couldn’t find any lights either, so he had to stay in the hospital longer than expected.

“We were in a bind,” said Katie Martin in a phone interview.

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