Meet Claire and Seth

Claire was diagnosed with PKU at birth. Three years later, Claire’s brother, Seth, was also diagnosed with the same condition.

Amy and Brian Oliver have two children who were both diagnosed with a rare
genetic disease called phenylketonuria (PKU).

PKU patients are unable to metabolize an amino acid called phenylalanine,
which is a building block of proteins. In order to keep phenylalanine levels
down to avoid brain damage and other health problems, PKU patients must
eliminate meat, nuts, diary, beans and artificial sweeteners, and carefully
monitor intake of fruits, vegetables and grains.

Testing for PKU is part of routine newborn screening. This is how Amy and
Brian learned that their daughter had this 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, 8-year-old Claire and her brother Seth, 5 years old. Additionally,
their son Seth was also diagnosed with PKU at birth, have been treated at the
department of Metabolic Genetics at the University of Utah Hospital.
As a resutl, they follow a special protein formula diet without phenylalanine designed by
dieticians especially for PKU patients, to get enough nutrition. Allowed to eat
only a few grams of protein per day, the Olivers must weigh, measure and record
every bite that their children eat. In addition, Claire and Seth must endure frequent
blood draws on a daily basis to monitor the levels of protein in their blood.

Αmy and Brian Oliver established the non-profit Intermountain PKU and Allied Disorders (IPAD) Association, so as to help and support families and their children in a similar position.
They created 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 furthermore 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 food as everyone else.

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.
They still receive a small amount of the nutritional formula, but nowadays, they can eat up to 30 grams of protein per day instead of 7-8 that they used to.

Now, Claire can enjoy a modified version of the same school lunch her classmates enjoy.
This progress eliminates the social distance and makes her feel like a regular kid.

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

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

Read more about phenylketonuria.
You may view the original article here, as published on Health’s University of UTAH website.
Photo credit: Health University of UTAH

Meet Claire and Seth

Claire and Seth Oliver were diagnosed with PKU.
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