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Local Family Opens Up About Rare Disorder

Apr 07, 2016 12:26PM ● Published by Bryan Scott

By Kelly Cannon | kelly@mycityjournals.com 

Cottonwood - Holladay - When Claire Oliver was eight days old, her parents received a phone call that would change their lives forever. During her newborn screening test, Claire tested positive for phenylketonuria, or PKU. 

“I had no idea what they were talking about,” said Amy Oliver, the mother of Claire. “I had to have them spell it out for me.”

PKU is a rare inherited disorder that causes an amino acid called phenylalanine to build up in the body. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. Because of this, people diagnosed with PKU cannot eat protein of any kind. 

“It was all very scary and overwhelming,” Amy said. “My baby looked perfect.”

Amy and her husband, Brian, were instructed to take their baby straight to Primary Children’s Hospital to confirm the diagnosis. After that, they scheduled an appointment with a medical team, including a member of the health department, a nurse, a dietician and a metabolic geneticist. During that meeting, the team went over what PKU means and how they will have to live their lives from now on. 

After Claire, Seth was born. Seth was also diagnosed with PKU. Their older brother, Luke, does not have the disorder. 

If children with PKU consume any protein, it can have delayed development, behavioral, emotional and social problems, and even intellectual disability. In severe cases, the consumption of protein can cause significant brain damage. 

“We have to be vigilant about every bite of food,” Amy said. “The challenge is finding foods they can eat and getting them enough they can grow.”

Aside from avoiding meats, there is a wide variety of foods that contain small amounts of protein. Spaghetti noodles contain protein. Legumes contain protein. The sweetener aspartame found in diet sodas is made out of phenylalanine and therefore cannot be consumed. Amy said many children’s antibiotics contain aspartame in order to make the medicine sweeter, so special antibiotics have to be made for her kids.

Amy said it was incredibly hard at first to process Claire and Seth’s diagnosis. 

“It’s something we have to deal with forever,” she said. “At the beginning, we didn’t have that perspective.” 

This led to Amy founding the Intermountain PKU and Allied Disorders Association, a support group for families with children with PKU. When Claire was 9 months old, Amy met another family with children with PKU. 

“I saw their kids, and they were running around and were fine,” she said. “That was so reassuring. If the kids follow the diet, they do great.”

Because the family has to be vigilant about every bite of food, the Olivers have to go about life differently. At the kids’ school, the kids have their own treat box in the classroom. If there is a birthday in the class and the parent brings in food, Claire or Seth can select an item from their treat box to eat with the class. 

“That way, they’re not excluded,” Amy said. “They can also have a treat.”

While Seth and Claire do sometimes bring lunch from home, they also are able to eat some of the food served at school because of a medication they take. 

“They love to eat the mac and cheese, though their portions have to be smaller,” Amy said. “But they’re able to get the same as their friends, which is important because so much of PKU is about being different.”

At home, most of the meals served are veggie centered with meat as a side dish. Amy and Brian are not vegetarians but they eat far less protein then they did before. 

When the Olivers go on vacation, they have to go somewhere where there is a space available for them to make their own meals. 

“We have to pre-plan all of our meals,” Amy said. 

Claire, who is now nine years old, is a third-grader at Morningside Elementary and is in the dual French program. It’s difficult for Claire to describe what it’s like to have PKU since it’s the only thing she’s ever known.

“It’s like a strict diet rule,” Claire said. 

She loves to eat avacodos but her favorite food is brownie cookies. She also loves to dance.

Seth, now six years old, is a first-grader Morningside and is also in the dual French program. He loves to eat fruits, so much so, his family calls him a “fruitasaurus.” His favorite subject is math and he loves to go snow skiing and riding his bike. 

For more information about PKU, visit www.go-ipad.org

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