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For infant with rare condition, blue lights keep her alive

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Monday, October 28, 2013

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It's not uncommon for newborns to go home with slightly yellowed skin - a condition called jaundice - that usually disappears in a few days as their livers mature.

For Nina Lowry, though, the yellow cast to her skin and the whites of her eyes lingered 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 it. 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 8 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 5 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 3, 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.

So Floyd Martin decided to build his own setup: a stainless steel canopy to hold the special blue lights that his son lay under at night.

The benefits of using sunlight to treat jaundice in newborns date back to the 1950s. Studies show that the blue component of natural light makes toxins water-soluble enough to be processed by the liver.

Before the discovery of blue light treatment, those with the condition usually died in childhood.

The Martins' second child, Amy, also had the disorder, so Floyd made another set. They had two more children who didn't have the condition, but soon, some nearby cousins also were born with the syndrome.

He made lights for them, ones that could be rolled over a crib and then a bed, as the children grew.

Soon, word spread throughout the tiny, global population of Crigler-Najjar patients.

"We've been making them for 23 years," Katie Martin said. "We have sent them all over the country and other countries, too."

Derick had a liver transplant at 16, and Amy at 11. Both are now in their early 20s and doing well.

They no longer need the lights, which cost $1,000 to $2,000 to construct.

So when the Lowry family went to the Clinic for Special Children in September, they first stopped to visit the Martins, who lent them a set of lights. They would sell them to the Lowrys, at cost, if another option didn't work out.

That option was across the country in a lab at Stanford.

Henk Vreman, 75, is a researcher in Stanford's pediatric department. He has spent the past three decades studying bilirubin.

Around 2000, he began constructing phototherapy beds with light-emitting diodes, or LEDs, to reduce bilirubin levels. He made a portable one for a Canadian 13-year-old with Crigler-Najjar who faced skipping a hockey tournament because he didn't have a portable set of lights.

Vreman estimates he's made 20 phototherapy beds, donating his time and labor but asking families to pay for materials, which cost $300 to $400. Like the Martins, he has sent the beds to people around the world.

He keeps hoping a company will gain interest in manufacturing the beds, especially since the cost of LEDs has gone down. One of his suppliers was unable to provide the needed parts, though, so he also suggested the Lowrys reach out to the Martins.

While companies make phototherapy lights for hospitals to treat newborns, children with Crigler-Najjar need more intense light as they grow older, so Vreman and the Martins have devised devices to work as children mature.

Vreman said companies don't see much of a market, and while the lights might seem like a simple concept, medical know-how is needed to build them and to advise use for patients. Insurance companies are leery of reimbursing medical equipment that hasn't been approved by the Food and Drug Administration.

Since the lights aren't from a medical company, there's no insurance code for them. There are dangers in absorbing too much light, or using the lights while on certain medications.

The Lowrys are covered by Tricare, the military insurance program, and Yana Lowry said a caseworker doubted they could get reimbursement for lights since there was no insurance code.

While Yana Lowry understands the rarity of the disease and the foibles of bureaucracies, she also admits frustration at a health system that is making it hard for her to pay for lights that keep her daughter alive.

"When I am in a nicer mood, I understand it," she said. "But most of the time, I'm angry. It's just a simple lamp. The insurance will pay for you to stay in the hospital - that's thousands of dollars - but to do something that would prevent it, they are unable to do it."

Tricare spokesman Austin Camacho said privacy policies prevent him from discussing insurance claims.

"I can tell you, more generally, that, in cases of rare illnesses we do not casually refuse coverage but rather, we work closely with the beneficiary to see what might be best," he wrote in an email. "Also, if a beneficiary disagrees with a decision made by TRICARE or our managed care contractors regarding their benefit, they have the right to appeal."

Yana Lowry and Dunleavy decided to ask Tricare to pay for replacement lights. The phototherapy set has 10 tubes and must be replaced every three or four months. A package of six costs $150.

Dunleavy found a medical equipment company that sold replacement tubes, so they could have an insurance code.

Last week, Tricare approved a set of replacement lights.

Nina slept under the lights Floyd Martin made on her visit to Pennsylvania - and every night since the Lowrys returned home in mid-September. She lies on crisp, white sheets to better reflect the light onto her skin.

Over time, the yellow tint to her skin disappeared. She's now a chubby-cheeked, 22-pound baby who is hitting all her milestones.

Her father, a saxophone player in the Army band, and her mother, who is studying for a doctorate in music history, hope she'll someday play musical instruments.

Yana Lowry had two miscarriages before Nina, so her first child's birth still feels like a miracle.

The doctors at the Clinic for Special Children set up a schedule of blood monitoring for a Newport News pediatrician who is treating Nina.

As time goes on, the intensive phototherapy becomes less effective - the skin toughens and becomes harder for light to penetrate. A cold, stomach bug or injury can cause a spike in bilirubin.

"She hasn't been sick yet," Yana Lowry said. "I don't know what her body will do. If she gets a fever, she'll go to the hospital right away."

Some children with the syndrome become frustrated as they get older, lying under the lights every night without blankets. The Martins shared a story of a woman in England who lived until she was 30, when she smashed her bed of lights; she died within weeks.

Yana Lowry said doctors at the Clinic for Special Children - where 20 children with the syndrome have gone on to have transplants - told her the timing of a liver transplant would depend on Nina's health. It's not something to rush, as she'll trade one set of health problems for another, since transplants bring the risk of surgical complications and organ rejection.

But the glowing blue lights, the conversations with Vreman and the Martins, and the visit to the clinic have been sweet assurance to the Lowrys.

"I confess there was a time when I didn't buy her bigger clothes because I thought she was going to die," Yana Lowry said.

Now she buys clothes a size up, and often slips into the room where Nina's crib glows blue at night to keep an eye on her.

"We put her under the lights, and she stays there eight hours," she said. "We are lucky she is a good baby."

Author: By Elizabeth Simpson
Source: Hampton Roads
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2.0 from 4 votes
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