The Price Of Life

by Sheryl Gay Stolberg

The Price Of Life

As second-time parents, Jamie and Tom Lazzaro, of Louisville, KY, weren’t the kind to become alarmed about every little cough or sniffle. Even so, when their 8-month-old woke up vomiting in the early-morning hours of August 13, 1997, they called their pediatrician, who didn’t think it necessary to rush the baby in. "We changed James’ sheets, and rocked him," his mom recalls. "He went back to sleep, and we thought that was a good thing."

By the following morning, James, a cheerful, chubby, blue-eyed baby, was dead, the victim of a rare hereditary disorder with a tongue twister of a name: very long chain acyl-coA dehydrogenase deficiency, or VLCAD. The tragedy, the Lazzaros say, was compounded by the fact that it didn’t have to happen: A simple blood test could have detected James’ disorder at birth, and he could have been treated for it. But Wisconsin, where James was born and the Lazzaros lived at the time, didn’t require the screening, and so the hospital didn’t offer it.

Alex Nawn got that test. He has MCAD (medium chain acyl-coA dehydrogenase deficiency), which is closely related to the disease that killed James Lazzaro. He was born in October 1998, in a Pennsylvania hospital that offers the newborn screening. Today, he’s an active toddler who loves chasing his cat, Garfield, around the dining room. The only thing he must do to control his condition, caused by a missing enzyme that prevents his body from properly converting fat into energy, is to eat a food high in sugar or carbohydrates, such as orange juice or ice cream, just before bed. His mother, Wendy, is well aware that the outcome could have been very different. "Our little boy," she says, "was born in the right place at the right time."

Sheryl Gay Stolberg is a correspondent for the Washington bureau of The New York Times.

Deadly Differences

The fates of these two children is at the heart of an intense, emotional debate over vast disparities in newborn screening from state to state. Most parents are familiar with the "heel stick," a procedure in which tiny drops of blood are drawn from a baby’s heel soon after birth to test for phenylketonuria (PKU) and, depending on what state you live in, several other metabolic disorders, such as congenital hypothyroidism. With the advent of a sophisticated new technology called tandem mass spectrometry, labs are able to use that same blood sample to screen for VLCAD, MCAD, and about 30 other potentially fatal enzyme deficiencies. Though hereditary, the diseases can also turn up in babies without a family history, so there’s no way to tell which newborns should be tested.

These illnesses, which involve an inability to break down fats or proteins, are devastating. Symptoms  — which can include vomiting, lethargy, and seizures  — may appear without warning in seemingly healthy infants and toddlers and could be mistaken for something as simple as an upset tummy. They may manifest themselves a few days after birth, when a baby is having difficulty digesting breast milk or formula, or anytime beyond, when a cold or another infection triggers an attack. The infant can slip into a coma, and those children who survive often suffer irreparable brain damage.

Most of these "inborn errors of metabolism," as they’re called in the medical lexicon, can be treated with diet, drugs, or a combination of the two. But unless they’re detected at birth, experts suspect that any damage they cause may not be prevented.

Only a handful of state public-health laboratories have the machines that screen for these conditions  — in part because they’re expensive, as much as $400,000 each. It comes down to a simple cost-benefit analysis: Most of the illnesses are so rare that public-health officials don’t think testing for them is worth the money.

The result: a patchwork system for newborn testing throughout the United States that has concerned some doctors and enraged parents. Both groups are banding together in a grassroots movement to press for universal screening. How many lives could their efforts help to save? One estimate puts the number of children affected by all the metabolic disorders lumped together at about 1 in 4,500 children, or some 900 of the roughly 4 million babies born in this country each year. Whatever the exact figure, to a parent of an afflicted baby it is inconceivable that life  — or death  — could depend on something as arbitrary as the lines on a map.

"I’m horribly sad about it," says Sarah Watkins*, who lives in the Cleveland metropolitan area. Her 5-year-old son, Zack*, suffered brain damage from an enzyme deficiency called citrullinemia. While it’s too soon to know the full extent of the damage, Watkins has been told by doctors that Zack probably won’t be able to graduate from high school or take care of himself. Simple physical tasks are difficult for him; he can’t use scissors or color within lines; he’s only recently mastered jumping; and it’s taken speech therapists years just to teach him how to stick out his tongue and move it from side to side. "I can’t believe that the luck of the draw, what state or hospital your child is born in, could change your life," she says.

*Name has been changed.


Newborn screening is a states’-rights issue; there are no federal regulations governing even the widely performed PKU screening, which means that states can do as they wish. (All states do test for PKU.) But the disparities have become so troubling that the federal government is stepping in. Together with the American Academy of Pediatrics, the federal Health Resources and Services Administration (HRSA) has convened a task force to consider setting voluntary standards for the states to follow.

But making expanded newborn screening universal won’t happen overnight. Politics is one stumbling block; in many states it will take new legislation to change current practices. Insurance is another; few companies will pay for screening, leaving states to decide if they want to pick up the tab, and hospitals the option of offering it only to those who can afford it. Another obstacle is that tandem mass spectrometers are complex machines, and there aren’t enough clinicians trained to use them.

The debate is also complicated by turf battles and free-market competition. The Baylor Institute of Metabolic Disease at Baylor University Medical Center, in Dallas, which does newborn testing for the full spectrum of diseases, is marketing the test directly to individuals and hospitals. So is Neo Gen Screening, in Pittsburgh, another laboratory that performs comprehensive testing. That rankles some state public-health labs, which don’t want to cede control over newborn testing to the private sector.

Who Gets What?

It’s unlikely that the government will recommend testing for all 30-plus metabolic diseases. According to Claude Earl Fox, M.D., the HRSA’s administrator, decisions about which disorders to test for will depend on a careful risk-benefit analysis, including the frequency of the disease and how much difference treatment can make. MCAD, for instance, afflicts more than 1 in 15,000 babies, and is treatable. But another disorder, MSUD (or Maple Syrup Urine Disease), afflicts 1 in 200,000, and even with treatment, the prognosis is rarely good unless it’s caught within the first week of life.

"We believe that all infants, regardless of where they live, should have a screening test available, along with follow-up and treatment  — provided the disease is treatable," says Dr. Fox. "We shouldn’t be screening every infant for every condition that we could possibly test for." Charles Roe, M.D., medical director of the Baylor Institute of Metabolic Disease, and one of the developers of tandem mass spectrometry, dismisses that argument as "circular reasoning," since treatments are improving, and there’s no way to tell how common a disorder really is until every baby is screened for it.

Experts also disagree on who should be screened. When a hospital signs up with Neo Gen Screening, the company insists that each baby born there be tested for every disorder, says Ed Naylor, Ph.D., president and laboratory director. Those hospitals that plan to offer tests only to parents who can pay are turned down.

"I think there’s an ethical issue if the parents can’t afford to pay," says Naylor. In contrast, Baylor’s policy is to allow the hospitals to offer the test to whomever chooses it. "I don’t think it’s right to deny it on the basis that you want to do all or none," Dr. Roe says.

A Few Small Steps

Meanwhile, a handful of state laboratories are turning to screening on their own. Massachusetts legislators have ordered the state to begin using the technology. Last year, it began a pilot program to test for 20 metabolic disorders in addition to the 10 that were already mandated. In the first year, 79,500 babies were tested, and 8 illnesses were detected.

Wisconsin, where James Lazzaro was born, now uses tandem mass spectrometry for 14 diseases, including VLCAD, the one that took his life. In time, as laboratory technicians gain expertise in operating the machines, screening will include other disorders.

California has installed two tandem mass spectrometers but hasn’t decided who will pay for screening. Insurance companies won’t cover the cost, the state didn’t set aside money to pay for them, and officials balked at asking parents to pay out of pocket, so the machines are sitting idle.

The Cost of Not Screening

Many experts are not convinced that screening for such rare disorders is worth the price. These doubts don’t go over well with Cay Welch, of Blairsville, PA. Her son, Michael Metil, is disabled from glutaric acidemia type 1, which prevents his body from breaking down protein properly. On Christmas Eve 1994, when Michael was 11 months old, he vomited and promptly fell asleep.

Welch thought her son had some kind of stomach bug, but as with James Lazzaro’s VLCAD, the vomiting and subsequent lethargy were symptoms of Michael’s undiagnosed disorder. He was slipping into a coma, the result of a toxic buildup of glutaric acid in his bloodstream. Today, at age 6, Michael is, in his mother’s words, "incredibly damaged." He’s unable to walk, talk, or sit up by himself, and fed through a gastronomy tube. Especially devastating for Welch has been meeting other families in her state whose children have the same disorder but are doing fine because the hospitals where they were born offered the testing.

"If you think prevention is costly, consider the price of not screening," says Welch. "These kids land in our hospitals. They need specialists and expensive equipment, whether it’s a wheelchair or a $10,000 communications device." The care for one child damaged by an enzyme or metabolic disorder can run into the millions, according to Dr. Roe.

While the debate continues and states weigh options, parents are spreading the word about screening for metabolic disorders. Sarah Watkins, for one, never lets a pregnant woman pass without mentioning the tests. "I’m telling everyone," she says. "This test is available. It could save your child’s life."