Proof of the Value of Newborn Screening at Every Milestone

By Nancy Maddox, writer

“I was nervous. I was scared. I thought, ‘What’s wrong with my baby?’” said Kristen Vanags.

It was November 2006, and Kristen had just gotten off the phone with her pediatrician, who told her that her six-day-old son, Joe, had a presumptive positive newborn screening test result for phenylketonuria (PKU), a genetic disorder that renders the body unable to process most forms of protein.

The doctor said, “I don’t want you to worry, but I need you to right away call the Emory Genetics Lab” to arrange for follow-up testing, which Kristen did.

She said, “I was in a complete panic. I called my husband at work and said, ‘You need to come home right away.’ I was standing in front of the refrigerator crying… I wanted to make sure my baby was going to be okay.”

At that point, Kristen knew that PKU is a serious disorder, capable of causing permanent brain damage. However, her quick Internet research also revealed that it is treatable, with a special diet.

On that day, she said, “I remember being nervous. I thought, ‘What I’m feeding my child right now is dangerous. I could be poisoning my baby.’”

When her husband, Scott, came home, he, Kristen, Joe and their three-year-old daughter, Anna, piled into the car and went to Children’s Healthcare of Atlanta at Egleston. A genetics counselor from Emory Genetics Laboratory was there to meet them.

“I was very impressed,” said Kristen. “She was very, very calming. She obviously knew her stuff. And she came with a can of Phenex-1, a medical formula for PKU.”

The family and the genetics counselor waited together while Joe had his blood drawn for follow-up testing. “It was scary,” said Kristen. “He was crying. We were so anxious. I wouldn’t ever want to go through that again, but it was as good as it could have been.” The children’s hospital had Joe’s blood couriered to the laboratory for testing and told the worried family they could go home.

“I was upset,” said Kristen, “but I was in a mode of How do we take care of this? I knew there was going to be a plan and there would be people who were going to help us.”

“My husband was so shocked he could barely talk. He was very quiet… He’s an engineer who likes to fix things. I know he was thinking, ‘I don’t know if I can fix this.’”

Early the next morning, Kristen and Scott received a phone call confirming the original newborn screening result. Once again the family got into their car, and this time headed to the Metabolic Genetics and Nutrition Program at Emory University.

They met with Dr. Rani Singh, the head of the program, and a metabolic dietician. “They did an amazing job explaining to us what the PKU diet was all about,” said Kristen. Upon learning that both parents graduated from Georgia Institute of Technology, Dr. Singh told them, “Now I don’t want you to worry. Some day, Joe can go to Georgia Tech. You are wonderful parents, you can do this. He can have the greatest life.”

Armed with information, a list of phone numbers, and the injunction to call at any time, the family went home and began adjusting to a new diet for their son.

It took several months for Kristen and Scott to shed their worst worries and fears. Said Kristen, “It took seeing the milestones, seeing him sitting up and smiling and saying his first words. Every time he did something new, it was an affirmation of the impact of newborn screening and a blessing to me that his PKU was identified. I am truly grateful for that.”

Today, Joe is six-years-old and in kindergarten, having successfully completed pre-school. His proud mom says, “He is doing so well. His math skills are unbelievable, and he’s learning how to read right on time. It’s reassuring to see Joe meeting all the expectations from an academic standpoint.”

Last year, Joe played T-ball, but he loves soccer best. He has friends with PKU whom he sees regularly. “He’s a sweet boy, well-behaved and pretty funny,” said Kristen. “He always wants to try new things. Other than his diet, he’s like any other kid his age. He’s great. And he’s happy.”

From an early age, Joe has helped with his diet. He counts out his low-protein snacks or weighs them on a gram scale. He knows what he can and cannot eat. When Kristen and Joe go grocery shopping, Kristen said, “I show him all the fruits and vegetables and if he wants something, I buy it. It’s a really fun thing for him. We try to make it a positive experience, focusing on what he can have versus what he can’t have. We really want to empower Joe to manage his diet. That’s a huge thing.”

Reflecting on the beginning of newborn screening in 1963, Kristen said, “It’s unbelievable that it’s been 50 years. It’s wonderful.”