More than half of state labs do not process newborn samples on weekends, creating critical delays in the process

·11 min read

This story was originally published on Nov. 16, 2013 as part of the series "Deadly Delays."

Deadly Delays

The nation's newborn screening programs depend on speed and science to save babies from rare diseases. But thousands of hospitals fall short, deadly delays are ignored and failures are hidden from public view — while babies and their families suffer.

Two babies were born with the same rare disease, in the same state, in hospitals only about an hour's drive apart.

One was born on a Tuesday and is now a healthy toddler.

The other was born on a Friday and may have died because of that.

The reason: In Colorado, like many other states, the state medical lab does not process newborn blood samples that come in on the weekend.

So when Noah Wilkerson was born on that Friday in 2009, the blood sample that was drawn early the next morning at Penrose-St. Francis Medical Center in Colorado Springs waited for two days before it was taken by courier to the lab.

The delay proved deadly.

Colorado Data

The Colorado Department of Public Health and Environment would not release data with hospital names.

On Tuesday, when Noah was 4 days old, the baby was tucked in a sling against his mother's chest while his parents ate dinner. When Sarah Wilkerson lifted Noah out for his own feeding time, he was blue and unconscious.

At the hospital, doctors and nurses inserted a breathing tube and IV lines. They tried adrenaline and a drug to start his heart, tried CPR and ventilation. They spent nearly an hour, his parents watching helplessly. But Noah's breathing never returned.

"I just sat there and hovered in the reality of knowing my son had gone without oxygen so long that he would either be brain-damaged or die," Sarah Wilkerson said. "It was hell on earth."

At 9:47 p.m., Noah was pronounced dead.

The next day, a Wednesday, the Wilkersons' pediatrician received the results from his newborn blood test.

It revealed Noah had MCAD deficiency, a genetic disorder that prevents the body from breaking down fats, which can lower blood-sugar to dangerous levels. The condition, which can emerge within days of birth, is treatable — if detected early — with a special diet and frequent feedings.

Had Noah been born two days later, he may have survived.

"These are life and death samples," said R. Rodney Howell, a professor of pediatrics at the University of Miami who specializes in newborn genetic disorders. "Sick babies don't take a holiday."

Closed for the weekend

An investigation by the Milwaukee Journal Sentinel found that in 27 states — from Hawaii to West Virginia — newborn screening samples are not processed on the weekend. In many cases the labs are closed entirely. In some, they process only samples received late Friday.

In 2011, those states accounted for 1.7 million births, or 42% of the nation's total. Lab directors and health officials blame tight budgets for the lack of weekend hours. Critics say the policies are a foolish gamble that each year leave hundreds of babies at high risk for lifelong disabilities or death.

Three years after Noah's death, in 2012, Colorado changed its regulations to require hospitals to perform the blood draw within 48 hours after birth, rather than 72 hours.

The new rules also say the samples should not be mailed to the lab; they must be sent by courier service or overnight delivery within 24 hours of being taken. In addition, Colorado now has a seven-day-a-week courier service that can pick up samples on weekends, though hospitals are not required to use it.

On its website, the lab carries this warning: "Any delay in shipping newborn specimens to the lab could critically impact the infant's life."

Yet the state lab still does not process new samples on weekends. All the changes addressed hospital shortcomings, not any delay caused by the lab's lack of weekend hours.

Mark Salley, a spokesman for the Colorado Department of Public Health and Environment, said the hours of operation for the lab are determined in consultation with medical experts and the state's newborn screening advisory committee.

"The current hours of operation have been in place for over 25 years," he said.

While the lab does not screen samples received on Saturdays or Sundays, it does test samples that arrive on Fridays and makes immediate notification on abnormal tests.

The lab begins testing on weekend-arriving samples at 6 a.m. Monday. The lab remains open to do testing if there is a three-day weekend caused by a holiday.

Salley said that as a result of all the changes instituted because of Noah Wilkerson's death, more samples are getting screened faster. In the first quarter of 2012, before the changes occurred, 63% of samples were delivered to the lab within four days of collection. As of the second quarter of 2013, that number had increased to 88%.

But experts say there is little reason all samples can't arrive in four days — or even three days or two — when you consider how effective overnight delivery is in the business world.

"There can certainly be extenuating circumstances," said Carol Greene, a professor of pediatrics at the University of Maryland School of Medicine, who then offered this list of extremes as an example of what would be acceptable: "Bad snowstorm and the courier does not go. Fed Ex plane crash. Katrina or Sandy or earthquake."

Lab costs vs. treatment costs

In 2008, Michigan added Saturday hours for its lab, a move aimed at protecting babies — and saving costs in the long run.

The state has about 111,000 births a year. Adding the extra hours meant between 10,000 and 13,000 samples that come in on Saturdays can be tested without a weekend's delay, said Bill Young, a newborn screening manager in Michigan's Department of Community Health.

The decision added about $316,000 to the program's $13 million annual budget, an increase of about 2.4%. Young said it was well worth it, considering long-term costs.

"It prevents early symptoms and damage to the brain," he said.

It can also can save money.

In 2004, the U.S. Centers for Disease Control and Prevention estimated the total lifetime costs of one baby born with mental retardation that might otherwise be prevented by newborn screening at more than $1 million. Often, such costs are absorbed by taxpayers through Medicaid or other programs.

"Newborn screening seems to be one of the rare health care interventions that is beneficial to patients and, in many cases, cost saving," researchers at Indiana University concluded in a 2006 paper that analyzed the cost-effectiveness of screening for eight different disorders.

Yet, in state after state, the labs remain closed on weekends.

Arkansas' lab is closed, yet its newborn screening website carries this message to hospitals: "Serious problems can be prevented if we find out about the disorders right away."

Ed Barham, a spokesman for the Arkansas Department of Health, declined to comment about the lab's hours of operations.

The lab in Oregon, which also tests samples for five other states, does not process samples that come in on Saturdays until at least Monday. Its website warns: "The importance of early sample collection and prompt transit is illustrated by the fact that infants with galactosemia, organic acidemias and fatty acid oxidation disorders may die within a week or two of birth."

Jonathan Modie of the Oregon Public Health Division said the lab's medical consultants "have assured us that no infant is put at risk because of our schedule."

Modie said the number of days a week that a lab operates is only one factor in the timely testing of newborn screening samples. He said the Oregon lab has processed 4.7 million samples over the last 50 years, and "we are unaware of any baby being harmed in any way because of our operating hours."

In Kansas, which processes about 45,000 newborn screening samples each year, officials said lab hours are restricted by cost.

Colleen Peterson, newborn screening lab manager, said she would prefer to have the lab open at least on Saturdays, but she would need two people to run the lab. Those technicians earn about $80,000 year, including benefits.

"Give me the funding and the staff," she said.

The downtime caused by labs being closed on the weekend is just as detrimental as delays caused by hospitals, said Gerard Vockley, chief of medical genetics at Children's Hospital of Pittsburgh.

"If you can't provide the service you say you are providing," he said, "then you shouldn't be in the business."

The diseases are rare, so a single baby's odds of testing positive are small. But when the delay involves samples from thousands of babies, it is much more likely something bad can happen.

Doctors say about one of every 800 newborns has a potentially severe or lethal condition that can be detected through screening and treated.

Said Vockley: "Eventually you are going to get caught on the math."

A life saved

Kay Kelly plays with her son near their home. "He climbs, he runs, he's completely healthy," she says.
Kay Kelly plays with her son near their home. "He climbs, he runs, he's completely healthy," she says.

MCAD deficiency

Babies are unable to change some of the fats they eat into energy the body needs. Instead, too many unused fatty acids build up.

  • effects Early signs are sleeping longer, poor appetite, fever, vomiting, diarrhea and low blood sugar. If untreated, the disorder can cause breathing problems, brain damage, even death.

  • treatment/solutions Restricted diet, L-carnitine supplements.

  • prevalance Affects 1 out of every 10,000 - 15,000 babies born in the U.S.

In March of last year, another baby was born in a Denver-area hospital with the same disorder that killed Noah.

But the baby was born early in the week and the condition was discovered when he was 3 days old.

The baby's mother, Kay Kelly, got an urgent call on a Friday evening from the family's pediatrician. Her son's test results for the disease were so high that he had to be fed every two hours to keep his blood sugar from slipping to dangerous levels, the doctor told her.

"He said if I didn't answer the phone he was going to drive to the house and knock on the door," Kelly said. "Rapid newborn screening absolutely saved his life that night. I am 100% convinced of that."

The parents asked that the baby's name not be used to protect his future medical privacy. After her son was born, Kelly began writing a blog, MCADD for Moms, and joined a national group that aims to improve newborn screening programs.

Now 19 months old, the boy is a blur of energy. He sits at the table pouring water back and forth from one glass to another, chases balls that he throws down the hallway and, banana smeared on his face, sits in an overstuffed chair watching TV.

"He climbs, he runs, he's completely healthy," Kelly said.

A life lost

Sarah Wilkerson said she holds both the lab and hospital responsible for Noah's death.

She said the hospital should have used the lab's weekend drop box so Noah's sample was available for testing first thing Monday morning.

Christopher Valentine, a spokesman for the hospital, said the hospital didn't send the sample in immediately because there was no one to leave a sample with on weekends. The state lab, though, says it has had a weekend drop box for years.

Sarah Wilkerson holds her son Noah in 2009 shortly after his birth.
Sarah Wilkerson holds her son Noah in 2009 shortly after his birth.

Wilkerson said she believes if the lab had been open with an established weekend policy, the hospital would have sent Noah's sample in right away.

"I understand their desire to cover their bases by having traceable steps with handing off test samples to an actual person rather than leaving it in a box somewhere," Wilkerson said. "But in the end, it cost some extra time which my son simply didn't have."

After Noah died, friends gathered up all his belongings and put them in his room. The door to the nursery remained closed for nearly a year.

When Wilkerson and her husband, Chris, decided to have a second baby, they used in vitro fertilization so genetic testing could be done on the embryo to check for MCAD deficiency. Aaron, now 3, does not have the disorder.

Sarah Wilkerson joined a group she had never heard of before Noah's birth: the Save Babies Through Screening Foundation, a parent-driven group that is pushing for improvements to screening programs.

"I think about him all the time," she said of Noah. "Every moment. Every day. If we are having a family dinner, I know my son isn't there."

In Denver, her husband is reminded of what happened in a different way. When he sees construction crews working on Saturdays on roads and highways, he knows government officials can arrange work schedules in ways that makes sense.

"So they prioritize building a highway over saving children's lives," Chris Wilkerson said. "That's just wrong. Things still get done at the state level. Why is this not one of them?"

Kristyna Wentz-Graff of the Journal Sentinel staff contributed to this report.

Deadly Delays

This article originally appeared on Milwaukee Journal Sentinel: Many states do not process newborn screening samples on weekends