Amy Oliver / PKU kids


By Lisa Browdy

Many parents can relate to the struggle to make sure their children eat a proper diet. But it is an all-consuming affair for Amy and Brian Oliver, who have two kids with a rare genetic condition called phenylketonuria (PKU).

PKU patients are unable to metabolize an amino acid called phenylalanine, which is a building block of proteins. They must eliminate meat, nuts, dairy, beans and artificial sweeteners from their diet (and carefully monitor intake of fruits, vegetables and grains) so the phenylalanine doesn’t build up in their bodies and cause brain damage and other health problems.

Testing for PKU is part of routine newborn screening—that’s how Amy and Brian learned that their daughter had the condition. “When Claire was eight days old we got a call from the health department telling us to take her right to Primary Children’s,” Amy Oliver recalls.

Since then, Claire, 8 and her younger brother Seth, 5 (who also has PKU) have been treated at the department of Metabolic Genetics at the University of Utah Hospital. They have the support of a dietician and a special protein formula without phenylalanine designed to help PKU patients get enough nutrition. Allowed to eat only a few grams of protein a day, the Olivers have to weigh, measure and record every bite that the children eat.

Claire and Seth also must endure frequent blood draws to monitor the levels of protein in their blood. As unpleasant as that is, the children almost look forward to it. “Our nurse, Shawna Baker, has been with us from day one,” Amy said. “The kids know and love her because she has a special box with prizes that they can choose for getting through each blood draw.”

Wanting to provide help and support to other families in a similar position, Amy and Brian (an ER physician) established the non-profit Intermountain PKU and Allied Disorders (IPAD) Association. They put together a starter kit with a food scale and cookbook that is hand-delivered by a board member to any family with a newly-diagnosed infant. “It’s reassuring to talk to someone who has been there,” Amy says. IPAD has also arranged educational cooking classes and a summer camp for PKU kids who can enjoy looking forward to a time that they’ll be eating the same thing as everyone else.

As PKU babies reach school age, the social aspects of eating become really important. Thankfully, the Clinical Services at the Center for Clinical and Translational Science at University of Utah Health is part of a long-term study to determine whether a new drug called Kuvan is a safe and effective means to increase tolerance to phenylalanine. Claire and Seth have been in the study for six years, and are responding very well. Though they still take a small amount of the nutritional formula, they can eat up to 30 grams of protein a day instead of seven or eight. Second-grader Claire can now enjoy a modified version of the same school lunch her friends eat, which helps her feel more like a regular kid.

The future looks brighter for all kids with PKU, thanks to new treatments on the horizon. University of Utah Health is participating in a Phase III study of an injectable artificial enzyme that mimics the missing liver enzyme that causes PKU. Though the study participants need to be patients over 18, Amy reports that they are now able to eat a normal diet.

Amy tells the new parents she meets through IPAD that “the good news is that if you follow the food restrictions, the kids can do very well.” The better news is that those restrictions may be replaced with medication, thanks to the research that her kids are helping to complete.

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