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Families share their stories with newborn screening

Photo of the Parent/Patient Panel at the 2023 APHL/ISNS Newborn Screening Symposium.

By Melanie Padgett Powers, writer

Elizabeth Whyte and her husband were living in Dubai, United Arab Emirates, when their first child, Henry, was born. A colleague told Whyte she would be asked if she wanted the heel prick “extra test” and that she would need to pay for it. Whyte consented to this newborn screening, but she wasn’t really sure what it was for.

About five days after Henry was born, when the family was back home, the hospital called to let Whyte know that one of her baby’s results “was out of range.” She was told she needed to bring in Henry for a repeat test. The second test was negative, so she was ready to move on. But friends in the UK encouraged her to get follow-up testing. So, the couple sent a sample of Henry’s blood to a laboratory in Germany.

Henry tested positive for glutaric aciduria type 1 (GA-1), a genetic disease in which the body can’t break down certain amino acids, the building blocks of proteins. People with the disease need to follow a strict low-protein diet to prevent a metabolic crisis.

Whyte shared her family’s story by video during the Parent/Patient Panel at the 2023 APHL/ISNS Newborn Screening Symposium in Sacramento, California, in October. The event celebrated 60 years since the beginning of routine newborn screening in the US.

The case of Henry, who is now a first grader, illustrates the benefits of newborn screening but also several challenges, including the different testing regimens from country to country—and in the US, from state to state—as well as the scattered education and awareness of newborn screening. In fact, this life-changing intervention is not yet available to more than 100 million babies born annually in low- and middle-income countries.

Whyte consented to screening for her newborn primarily because a colleague told her about it, and she followed up with testing because trusted friends and family in the UK encouraged her to. She and her husband were able to find a consultant in Dubai for Henry, but it was one person, not a team. Plus, it was difficult in Dubai to access the medication and special formula Henry needed.

The family decided to move back to England for Henry’s medical care. In 2020, they had another son, Jude. They waited to test him for GA-1 until after he was born. He too tested positive for GA-1, although his concurrent regular newborn screening showed a false negative for GA-1.

“It obviously posed a lot of questions,” Whyte said. “What would have happened if we hadn’t have had Henry in Dubai and been tested within the 48 hours, instead of that additional time that it is in the UK, which is from five days onwards?” Whyte said she understands that the screening in the UK is done later because of other conditions, but, she said, “I can’t help but feel that our outcome would likely have been very different should Henry not have been born in Dubai.”

Today, because of newborn screening, a special diet and access to treatment in the UK, Whyte said, “Both boys are doing fantastically. … We’re so grateful that we live in a time that we have the support and awareness of these metabolic conditions.”

Systematic parent education needed

In the US, newborn screening is often thought of as that heel prick, which takes a sample of the newborn’s blood for testing in a laboratory. But newborn screening also includes a heart screening and a hearing test.

Also on the panel was Michelle John, who shared her experience with her three children’s births. Her oldest, Tyson, was born deceased but revived after 17 minutes. After six weeks in a critical care facility, Michelle said he was sent home “to die.”

To this day, John has no idea if her son had a heel prick or heart test. But she was told, despite all his medical issues, that he had to have a required hearing test before he left the hospital. He failed the test, but a clinician told John that her baby probably just had fluid in his ears.

Later, an otolaryngologist (an ear, nose and throat doctor, commonly called an ENT) wasn’t sure if Tyson could hear. John got the sense that no one wanted to focus on Tyson’s hearing because he had so many other potentially fatal medical conditions. Finally, an audiologist took the issue seriously. Tyson was retested, and they learned he was Deafblind plus, which refers to people with vision and hearing loss as well as an intellectual impairment.

Tyson lived. He’s now 10 years old. John and her husband also have two other children: Trinity, age 7, and Lane, age 5. All three kids were born by Cesarean delivery in a non-critical care facility in New Hampshire.

“I have no idea if any of my children had newborn screening,” John said. “I know my oldest failed the hearing; I have no further information than that.” After her daughter was born, John was told at one point, “We’re going to take your daughter to check on her.” John assumed that meant newborn screening, but “she came back, no information was given, and I’ve never heard another word since.” The situation repeated itself after her youngest son was born.

Newborn screening “wasn’t brought up during [my obstetric] appointments. It wasn’t brought up after birth; it wasn’t brought up before going home. None of these things were discussed,” John told attendees.

“Somewhere along the line, something went a little wonky,” she said. Newborn screening needs to be explained to parents several times throughout the pregnancy and delivery, she stressed. “It’s not to scare them. … It’s just to be honest. … It’s critical that this becomes a natural part of the process. It has to be engrained, and it has to start long before the baby is born.

“I have three amazing kids. One is Deafblind plus. I’m here because of him, but I’m actually here to represent the fact that, especially in rural communities, information is maybe not quite as open as it needs to be. And it’s really critical that it becomes a lot more transparent with everyone involved.”

Melanie Padgett Powers is a freelance writer and editor specializing in health care and public health.

The Newborn Screening Symposium, co-sponsored by APHL and the International Society for Neonatal Screening, was held in Sacramento, California, and online October 15-19, 2023.

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