By Donna Campisano, specialist, Communications, APHL
Four mothers of babies—some of whom are now thriving children—recounted their experiences with newborn screening tests at the 2024 APHL Newborn Screening Symposium held October 20-24 in Omaha, Nebraska.
The symposium, sponsored by the Association of Public Health Laboratories (APHL) in conjunction with the Nebraska Department of Health and Human Services and the International Society for Neonatal Screening, is an annual international gathering of more than 600 public health professionals that features the latest in laboratory technology and newborn screening systems practice.
As part of the symposium’s parent/patient panel, these mothers, often speaking through tears, shared their journeys with newborn screening—from the first heel prick to the anxiety of waiting for results to the overwhelming reality of managing a disorder they knew little about. Looking at the process through lived experience, they also added some insights on how newborn screening can be improved, noting the need for speedier results and better communication between healthcare providers and families.
Jamie’s Story
When Jamie Slaughter’s son Erik had his heel pricked in the hospital, she didn’t give it a second thought.
“I was just trying to breastfeed and figure out life with this newborn,” the Nebraska mom of three said. “I didn’t think twice about it.”
Until that is, she saw Erik’s pediatrician a few days later. At the visit the doctor told her Erik’s newborn screening test had come back positive for a disorder called adrenoleukodystrophy (ALD), something she’d never heard of before.
The doctor explained to her that ALD is a genetic disorder, most often seen in males, which damages the myelin sheath, a membrane that covers nerve cells in the brain and spinal cord. When it’s damaged, nerve cells can’t properly communicate with the brain causing all kinds of issues, including a buildup of long-chain fatty acids.
The doctor suggested Erik be retested and told Jamie to go home and not worry about it.
But she did, and her worst fears were realized when the results came back positive again.
“I asked her, ‘What’s the best-case scenario?’ And she said that he would be asymptomatic. Then I asked her, ‘What’s the worst-case scenario?’ And she said he may not live past age 7 or 10.”
“Here I am at home, living my best life with my baby, and then we get these test results. The doctor told me not to Google it, but of course I did. I actually put her on speakerphone while I looked it up. I asked her, ‘What’s the best-case scenario?’ And she said that he would be asymptomatic. Then I asked her, ‘What’s the worst-case scenario?’ And she said he may not live past age 7 or 10.”
Jamie and her husband waited an agonizing month for an appointment with a specialist. “It was a long month of Googling and finding a lot of devastating, worst-case scenarios. I would look at my baby boy and just cry, wondering what his life was going to be like. I learned about something called ‘anticipatory anxiety.’ You live with this anxiety of not knowing what the future will hold.”
Jamie says she still lives with that anxiety, although Erik is now a thriving 2-year-old. He has periodic MRIs to look at his brain and has frequent labs to check his cortisol and other hormone levels.
Looking back on her experience, Jamie said that what could have made things easier was having a face-to-face meeting with Erik’s pediatrician when the test results came in rather than receiving a phone call. “I would have liked to have sat in her office and maybe gotten a hug from her and some pamphlets of information when we received the news,” Jamie shared.
Getting a faster appointment with a specialist and connecting to other families with similar situations would have been appreciated as well. “When it’s 2:00 am and you’re Googling and you’re on a downward spiral, having that relationship with and support from a specialist and other parents would have been invaluable.”
Jennifer’s Story
Jennifer Waverly was a first-time mom in 2015 when her son Thomas was born.
“After 26 hours of labor, he came out screaming and I couldn’t wait to hold my precious boy,” said Jennifer.
A day later, a nurse came into Jennifer’s room to collect blood for his newborn screening test. “I remember asking her what this was all about, and she said it was for his newborn screening and left a pamphlet by my bed. Little did I know that the test would change my life forever.”
Jennifer said she sensed something was wrong with her baby—for example, he barely made a peep when he was circumcised—but as a first-time mom unsure of her instincts, she was reluctant to speak up.
What Jennifer didn’t know then was that Thomas was already in a metabolic crisis. He was losing weight. He stopped breathing in her arms. After he was resuscitated, he was admitted to the NICU where they performed test after test. They did blood draws and scans of his brain and heart. “We had to sit and watch Thomas suffer so much. We called our local priest to have him baptized,” she recounted.
“After exhausting every effort to keep him alive, we had to make the incredibly hard decision to let Thomas go and say goodbye. He was only 5 days old.”
Thomas stopped breathing again. And again. “We watched him come back to us several times, and CPR continued on for what felt like hours,” Jennifer said. “After exhausting every effort to keep him alive, we had to make the incredibly hard decision to let Thomas go and say goodbye. He was only 5 days old.”
Thomas’ newborn screening test came back positive for a metabolic disorder called medium-chain acyl-CoA dehydrogenase deficiency (MCADD). It’s an inherited condition in which the body can’t convert certain fats into energy. Further testing showed that both Jennifer and her husband are carriers of the gene mutation that causes MCADD. They went on to have two more children, both boys. Noah is also a carrier for MCADD but doesn’t have the disorder. His brother, Bentley, does have MCADD, but his story is much different than Thomas’.
“I remember the doctors asking us to come meet with them in their office a few days after Bentley was born,” Jennifer said. “And before we could even get in the door I dropped to my knees and prayed he would live. I knew Bentley had MCADD.”
Bentley, now 5 years old, has had several infections and over 30 hospitalizations to date. But, said his mom, he’s also a rambunctious boy who’s full of life and promise. “He always has a smile on his face,” said Jennifer. “One that truly lights up a room.”
Jennifer said she’s “blessed” that newborn screening exists, but also noted more remains to be done. “I’m flooded with questions,” she noted. “For example, can we screen a baby as soon as they’re born, instead of letting hours or days go by? Are there criteria to meet to put one baby’s testing ahead of another’s? Are there people working 24/7 to get these test results in? If the answer to any of these questions is no, then there’s room for improvement. This is imperative for children’s lives.”
Kala’s Story
Despite a difficult pregnancy, Kala McWain’s son Braxton was born healthy on January 27, 2020, and discharged three days later.
“On day four, we got a call that would change our lives and save Braxton’s,” Kala said. “It didn’t come from the doctor, but from a nurse in the office. She said Braxton’s newborn screening test came back positive for phenylketonuria (PKU).”
PKU is a rare inherited metabolic disorder that affects how the body breaks down phenylalanine, an amino acid. When phenylalanine builds up in the blood, serious complications can arise, including intellectual disabilities, seizures and brain damage. In 1963, PKU became the first disorder for which newborns were screened. Treatment for PKU requires following a lifelong low-protein diet and the use of a metabolic formula.
Kala returned to the hospital with Braxton for further testing and then waited. And waited some more.
“We had a seemingly healthy baby in our arms, but we grieved the life we had envisioned for the last nine months. No one gave us any hope.”
“I was given no timeframe for when the results might be in and no idea of what follow-up might look like,” said Kala, who acknowledged the event was so traumatizing she still has difficulty talking about it. “They gave no context surrounding the disorder. So, for the next 72 hours, we did quite a few things. Of course, we Googled PKU and learned that life with the disorder can include intellectual disabilities and neurological damage. Google did not tell us everything was going to be OK. We had a seemingly healthy baby in our arms, but we grieved the life we had envisioned for the last nine months. No one gave us any hope.”
At 9 days old, Braxton and his family drove through a snowstorm from Wyoming to Denver to initiate his treatment. There, Braxton got more lab work done and his system was flushed to remove it of breast milk. And perhaps, just as importantly, his parents received the support and education they needed.
“Newborn screening saved his life, and I’m so grateful it exists,” Kala said. “But things could have gone so differently.”
For starters, she said, the initial call about Braxton’s test results could have come from his provider, not a nurse with little education about the disorder. Hearing from the genetics and metabolic clinic sooner would have helped, too. “Just having someone say, ‘Look, we don’t know much about this disorder but there is a treatment’ would have made a world of difference,” she said. Ditto knowing that a newborn test doesn’t even make it onto the panel unless there is a treatment for it, or it has a positive outcome.
“The way news is delivered is just as important as the content,” Kala added. “We are people first, not patients, and how we communicate with individuals matters deeply. Families will remember these conversations for a lifetime, and the impact of our words can resonate far beyond the moment.”
Brittany’s Story
Brittany Parke is a Colorado mom of four children, two of whom were born with a rare metabolic disorder called homocystinuria (HCU). With HCU, the body is unable to break down the amino acid methionine, allowing it and another chemical called homocysteine to build up in the blood and urine. This can cause problems with the eyes and skeletal, nervous and vascular systems.
Her first son, Drew—who was born in New York State—was screened for the condition in 2011 at just a few days old. However, his results were negative (up to 50% of classical HCU cases can be missed on newborn screening).
“Drew was perfect,” Brittany commented. “It was an easy pregnancy and easy birth. And he was just incredible.”
When Drew got his newborn screening, his parents didn’t think much of it. “Truthfully, we didn’t even know anything about the screening until it became an issue. But even though his results came back normal, we started having concerns early on. He had difficulty nursing. He was sleeping like 20 hours a day. And he had low muscle tone.”
Drew’s pediatrician reassured Brittany that the baby was fine and developing normally, despite her hunch things were off. At his two-month visit, when Drew’s head measured smaller than normal, he was sent for an X-ray. Again, Brittany was told things were fine. “I was made to think that it was me. That I was imagining things.”
Two days later, Drew was rushed to the hospital when he stopped breathing. “They stuck us in a back corner and misdiagnosed him with acid reflux and sent us home,” Brittany recalled. “Less than a week later he had a life-threatening seizure and stopped breathing. I was on the phone with the pediatrician saying, ‘Please, just admit us to the hospital. What’s the big deal? I have insurance. It will get paid for.”
Drew was admitted, but it wasn’t until the next morning when he had another seizure and coded that doctors finally acknowledged Drew was in serious trouble. “Drew had severe brain atrophy,” Brittany said. “There was almost complete deterioration of his white brain matter. He was placed on a ventilator. We had geneticists and infectious disease doctors coming in and out of the room asking really awkward questions like, ‘Are you and your husband related?’”
A metabolic specialist was finally called in and the diagnosis of HCU was made. But it was too late. “There wasn’t much life left,” Brittany said. “We lost him at 3 months.”
In 2019, Brittany gave birth to her second son, Grayson. By this point, the family had moved to Colorado and developed a care plan with Children’s Hospital Colorado. “I can’t even tell you what a difference it made having a team that is supportive,” Brittany acknowledged.
“We had an answer, and we could move forward with the idea of how can we help him? How can we ensure his future is bright?”
Grayson’s newborn screening came back negative for HCU, but he was started on treatment anyway. Rapid gene sequencing was done on the baby at 3 days old, and he was diagnosed with the same disorder that took Drew. “That diagnosis meant the world to us,” Brittany said. “We had an answer, and we could move forward with the idea of how can we help him? How can we ensure his future is bright?”
Today, Grayson is a typical 5-year-old who loves flag football and ice cream. “He’s incredible and I’m very, very proud of him,” Brittany said. “My ask for today is that labs consider their cutoffs for methionine to catch more babies with this disorder. I do think that with the technology we have, there is a lot of room for improvement. But my hope is that all these babies have the kind of bright and exciting future Grayson has.”
