by Kim Krisberg
On Feb. 13, 2012, Honey Stecken gave birth to her daughter Maren. Everything appeared perfectly fine — she ate and slept and did all the things a baby does. Even after a couple weeks at home in South Fork. Colo., with her newborn little girl, nothing seemed out of the ordinary.
About two weeks after Maren’s arrival, while Honey was at a children’s birthday party for one of her son’s friends, she received a call from a doctor she didn’t know. He was calling on a Saturday, never a good sign. With an urgent tone in his voice, he asked if Maren was eating well, if she was vomiting, did she seem lethargic? Honey said it all seemed so shocking — like she said, everything appeared perfectly fine.
Unfortunately, Honey’s daughter wasn’t fine. While Maren was still in the hospital, a few drops of blood had been taken from her heel as is done with nearly every single baby born in the United States. That blood spot was sent off to the state’s newborn screening lab, where staff found that Maren’s blood showed signs of a rare metabolic disorder known as propionic acidemia. It meant Maren’s body couldn’t process certain amino acids contained in proteins. Eventually, the acids can build up to toxic levels, resulting in serious medical problems, lifelong disability and even death. For the two weeks that Maren had been home from the hospital, “I had been essentially poisoning my daughter with breast milk and formula,” Honey said.
A day after the doctor’s call, Honey heard from a geneticist requesting the family make the five-hour trip to Children’s Hospital in Denver the next day. There, laboratorians confirmed the initial diagnosis and thankfully found that Maren had not been affected by weeks of being fed protein. Propionic acidemia has a spectrum, and Maren was on the mild end. Still, her diet would have to be altered immediately to keep Maren out of danger.
“Newborn screening saved my daughter’s life,” Honey told me. “Propionic acidemia can be a very silent killer…it becomes very insidious. Without newborn screening, Maren would either be dead or delayed, cognitively or physically.”
Today, Maren’s diet has to be meticulously monitored — her parents measure her protein levels down to a tenth of a gram. And she’ll have to be on a special diet for the rest of her life. But that life will be a normal, healthy one.
“If you don’t catch it through newborn screening, you catch it through crisis,” Honey said. “Before I had my daughter and learned about propionic acidemia, I’d never heard of anything like it. …For me, newborn screening is like an early advocate for your child. If it hadn’t been in place when Maren was born, she may not be here.”
Stories like Maren’s are possible thanks to the early detection provided by state newborn screening programs and the dedicated public health laboratorians who run thousands of tests every day to stay one step ahead of diseases and disorders that if not caught extremely quickly can lead to permanent disability, severe retardation and death. In fact, this year is the 50th anniversary of newborn screening in the United States, and celebrations are already underway to observe what the Centers for Disease Control and Prevention describes as one of the 10 greatest public health achievements in U.S. history.
“When you think of all the lives that have been saved over the last 50 years, it’s really one of the most important public health programs out there,” said Jane Getchell, senior director of public health programs at the Association of Public Health Laboratories (APHL), who in partnership with CDC has launched a national public awareness campaign to mark the anniversary. “Newborn screening programs and laboratory staff are so proud of all that they do for their communities and so dedicated and committed. We want parents, physicians and the public to know about this program.”
Saving lives behind the scenes
Newborn screening doesn’t make the news, it isn’t advertised on billboards and its technicians don’t get their own talk shows. Like many of the critical and life-saving activities done inside a state public health lab, it remains surprisingly invisible.
Yet every year, public health labs screen more than 4 million babies in the U.S. for dozens of genetic and metabolic disorders. Newborn screening is responsible for saving about 12,000 babies every year from death or physical or intellectual disability. To put it in perspective, take Texas. The Lone Star state’s public health laboratory screens 400,000 newborns every year for nearly 30 disorders using a small blood sample taken from a baby’s heel at the hospital. In fact, they screen each baby twice. That’s 800,000 newborn screening tests. Today, most state labs screen for at least 29 conditions, though many screen for much more and new disorders are getting added to state screening panels all the time.
Newborn screening began in the 1950s with the development of a screening test for phenylketonuria, more commonly known as PKU, a serious disorder in which the body can’t metabolize certain amino acids. If not detected early and managed with a special diet, PKU can lead to permanent mental retardation. Getchell, at APHL, told me about seeing the impact of newborn screening for kids living with PKU. For more than a decade, she oversaw newborn screening in Iowa and every year the program would host a PKU picnic. At the picnic, young kids with PKU would run around, play softball — be just like normal, everyday kids.
“It just made me feel so proud,” she said. “Here are all these kids with PKU playing softball…and without newborn screening, these kids would have been institutionalized, unable to do anything for themselves. But because of newborn screening, they can lead normal, healthy lives.”
Newborn screening programs are complex, well-oiled systems that require an incredible amount of coordination between public health labs, health care systems, parents and physicians to catch and treat disorders as quickly as possible, Getchell said. But beyond daily activities, she noted that continuous efforts are also made to ensure quality and uniformity across state screening programs and to consider adding new disorders to screening panels. For example, four times a year CDC sends out fake newborn blood samples to state labs to test for accuracy and proficiency. The testing means that no matter where a baby is born, he or she will benefit from quality newborn screening methods, said Carla Cuthbert, chief of CDC’s Newborn Screening and Molecular Biology Branch.
“Newborn screening never lets up,” Cuthbert told me. “It’s so important to have qualified staff, to have systems that continue to work and to have robust instruments that won’t break down, because babies keep being born and it’s essential that we’re able to meet the challenge. We can’t afford to miss a day.”
The breadth of newborn screening has expanded significantly in the last 50 years, most notably with the introduction of tandem mass spectrometry technology in the early 2000s, which allowed laboratorians to test for about 20 conditions at one time, Cuthbert said. And with emerging genetic technologies, the future of newborn screening is filled with new possibilities.
In fact, Cuthbert noted that 12 states are already using molecular testing to screen newborns for severe combined immunodeficiency disorder (SCID), a genetic defect that compromises the immune system and can be treated with a bone-marrow transplant. In 2010, the federal Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children — which formed in 2003 and is considered a milestone in newborn screening history — recommended that SCID be added to the Recommended Uniform Screening Panel, the national recommendations states use to shape their own screening programs.
“The future does look pretty exciting and we know that genomics will have an impact.” Cuthbert said. “But there are still a lot of things we have to understand and consider and we’re not there quite yet.”
Ken Pass, president of the International Society for Neonatal Screening, agreed with Cuthbert’s assessment, noting that “I think molecular biology and DNA will take over newborn screening in the future.” Pass and his colleagues at the society not only work to promote quality assurance within newborn screening, they help developing countries launch their own newborn screening programs. In fact, he said that he tells health workers in other countries, “first get clean water and sanitation and then get newborn screening — that’s where you’ll get the biggest returns.”
For about 30 years, Pass oversaw New York state’s newborn screening program, which screens about 250,000 babies every year. When he began in 1977, the program only screened for six conditions; when he left in 2010, it was screening for 59.
“Newborn screening can make a tremendous difference in the quality of a person’s life,” Pass told me. “It can be life and death; it’s that simple.”
Welcome to the lab
When Superstorm Sandy came ashore New Jersey late last year, essential state employees had to keep working. Among those considered essential were the employees of New Jersey’s Newborn Screening Laboratory. Throughout the storm, the lab didn’t miss a day of screening, working with police to ensure the safe transport of specimens, and taking every precaution to “make sure we did not stop working while everything else around us was in chaos,” said Scott Shone, program manager at the newborn screening lab at the New Jersey Department of Health.
“We’re not unique…every state newborn screening program is dedicated to the babies in their state,” Shone told me. “I have my own son, but I also have 101,000 other children that I consider my own every time a new specimen comes in.”
New Jersey’s newborn screening lab receives a sample volume of about 120,000 annually, screening every baby born for 54 biochemical and genetic disorders. And recent state legislation means New Jersey’s screening panel will soon expand to 60 conditions. In New Jersey, the lab typically detects about 350 cases of disorders annually, plus another 300 cases of sickle cell trait (which means the baby is a carrier, but won’t develop the disorder). The lab is home to 34 staff, including technicians, technologists, clerical and data entry staff; it processes specimens six days a week and on holidays; and works closely with hospitals, specialists, parents and a whole host of interrelated disciplines to deliver results and treatment options faster than diseases can deliver irreversible damage.
“Babies are always being born, so we’re always there to test them,” he said.
Shone noted that “newborn screening has toiled in anonymity for a long time” and so this year’s 50th anniversary activities are the perfect time to raise awareness. New Jersey is one of a dozen states chosen by APHL to host a traveling newborn screening exhibit — the exhibit will land in New Jersey July 22 through Aug. 1. Shone and his colleagues will also host a number of awareness-raising events and especially work to engage families who’ve benefited from newborn screening. He added that such celebrations may even help educate the public on the critical importance of funding for public health laboratories. While newborn screening is mostly fee-based via third-party payers and so it’s often protected by budget shortfalls, it can be significantly impacted by the workforce and training funding cuts that affect public health labs.
“(This anniversary) is not only a birthday party for newborn screening, but it’s also a birthday party for all the adults who continue to have birthdays because of newborn screening,” Shone said.
Recently in Albuquerque, N.M., Teddi Miller and her family celebrated a birthday as well — her son Evan turned two. It was a birthday made possible by newborn screening.
Teddi had a normal pregnancy and delivered via C-section. But problems began in the hospital when Evan began struggling with nursing. He would latch on perfectly to the breast, but then he would fall asleep while feeding. Hospital staff had no idea what was wrong and sent Teddi and Evan home after a few days, suggesting Teddi supplement with formula. A couple days later, Teddi brought Evan to the pediatrician — Evan was putting on weight and the doctor didn’t seem concerned.
Then on a Friday when Evan was six days old, Teddi got a call from the health department saying Evan’s newborn screening test came back positive for a condition known as Maple Syrup Urine Disease (MSUD) and she needed to talk to her doctor immediately. MSUD is a metabolic disorder that prevents the body from processing certain amino acids and gets its name from the sweet smell of the baby’s urine. Teddi said the doctor she was eventually connected with didn’t seem overly concerned, said it could be a false-positive, to watch Evan for symptoms and to come in on Monday.
That Monday, when Evan was nine days old, they went to the doctor, had blood drawn and were sent home. An hour later, a local geneticist called Teddi and wanted to see Evan right away. They met at the local ER, where the geneticist looked Evan over and was a bit baffled that even though Evan was very lethargic, he didn’t show other tell-tale signs of MSUD. He decided to admit Evan anyway. At this point, Teddi tells me, Even was so sleepy he was barely waking up.
“The geneticist was saying ‘I promise you he’ll wake up,’” she said. “No one used the word ‘coma,’ but there’s no other word as a parent to put it.”
While in the hospital, it was confirmed that Evan had MSUD, which if left undetected and untreated can lead to brain damage and death. To protect Evan’s health, he would be put on a meticulously monitored low-protein diet and was given special formula made without the amino acids that were so dangerous for Evan’s body. Evan was hospitalized for 14 days and stopped breathing twice.
Today, Evan is a happy, healthy two-year-old. The day I talked with Teddi, they had spent the morning at the zoo, where Evan likes to point out all the animals and mimic what they say. More than a year prior, on the day before his first birthday, he had a liver transplant and now his body can produce the enzymes needed to metabolize the problematic amino acids. While technically he still has MSUD, he no longer has symptoms and can eat a regular diet.
“Newborn screening saved my son’s life,” Teddi told me. “There’s no doubt about it.”
To learn more about newborn screening and this year’s 50th anniversary activities, visit APHL. And click here to download a copy of APHL’s new book on the history and significance of newborn screening, titled “The Newborn Screening Story: How One Simple Test Changed Lives, Science and Health in America.”
Kim Krisberg is a freelance public health writer living in Austin, Texas, and has been writing about public health for more than a decade.