By MOLLY DAVIDSON / Staff Writer

NORTH SHELBY—Amy Marvin clearly remembers the day her doctor called about an irregularity in her seven-day-old son’s blood work.

“It was very scary,” Marvin said. “The second phone call the very next day was even scarier.”

Marvin’s son Will was diagnosed with PKU, a rare genetic metabolic condition that inhibits the body’s ability to break down phenylalanine, an amino acid found in protein. High levels of phenylalanine are toxic to the brain. If untreated, phenylalanine builds up and can cause severe, irreversible brain damage.

Treatment for PKU involves a strict diet and constant monitoring of phenylalanine levels in the blood. Will cannot eat high protein foods, such as meat, fish, eggs, dairy products, beans and nuts. He also has to limit his intake of starch, which is found in foods such as potatoes, bread, rice and pasta.

“It’s all about their brain development. There’s no immediate response, but it is damaging,” Amy said. “Long term, you’re going to lose IQ points (if you go off the limited diet). This is a diet for life.”

The restrictive diet can be challenging and involves constant meal planning and knowledge of foods. For example, Will can have apples, but he can’t have bananas because they’re high in phenylalanine, Amy explained.

Will also supplements his meals with a formula packed with all of the nutrients his body and brain need to grow.

“It’s his life sustaining formula,” Amy said. “(Without it) he could live, but his brain would not grow and develop.”

While the formula is a necessity for many individuals with PKU, it is expensive and often not entirely covered by insurance, making it hard for some families to afford, Amy explained.

“I don’t think people always know how extreme it is,” Amy said of PKU and the necessity of a restrictive diet.

Possibly just as challenging as the food limitations is the rarity of PKU. Approximately one in every 15,000 babies is born with PKU nationwide, and in Alabama there are less than 80 reported cases spread across the state. With so few local and nationwide cases, it can be hard to find a nearby support network.

Amy and Will have found support and friendships among the Georgia PKU Connect community.

“He has these friends in Georgia who he’s close to and he can relate with,” Amy said. “He saw what we had in Georgia and he really wanted that here (in Alabama).”

At Will’s urging, Amy and several other families have joined together to start the Alabama PKU Foundation. Although new, the group is already making strides.

On March 30, Gov. Robert Bentley will sign a proclamation declaring the day PKU Awareness day.

Amy said she hopes the proclamation will bring awareness to PKU and also help build a support network in Alabama.

“Our major goals (for the Alabama PKU Foundation) are support for families and a connection for the patients and their families,” Amy said.

For more information about the Alabama PKU Foundation, visit the groups Facebook page at Facebook.com/ Alabama-PKU-Foundation-424232684408189/?fref=nf.