Life With a Genetic Disorder: Utah Family Shares Their Story
Newborn babies in Utah are tested for 44 medical conditions, one being Phenylketonuria, or PKU, a rare genetic disorder that impacts one in every 10,000 to 15,000 births, according to the Utah Department of Health. A Northern Utah family shares their story about their three children who have PKU.
Sara Tye loves to cook, but you won’t find her whipping up one of Julia Child’s famous recipes. Instead, she follows very distinct recipes that meet the needs of her three children who have PKU.
PKU is a rare genetic disorder that prevents the carrier from digesting the amino acid phenylalanine.
“A lot of people choose not to change their own diets, but as someone who didn’t really care much for meat originally, I felt like it was probably in our best interest to try to move our whole family to a more vegetarian lifestyle," Sara said.
PKU is a rare genetic disorder that prevents the carrier from digesting the amino acid phenylalanine. Because a typical person needs phenylalanine to grow, Sara and her husband, Mike, have to teach their children, Jackson, Sawyer and Holland a different way of life, a life filled with new baking mixes and portion control that still gets them the phenylalanine they need, though in limited amounts.
Sara said if they don’t stick to treatment, they could see severe changes later in life including brain damage or delayed development.
"Because their diets are so restricted, the majority of their calories, vitamins and minerals come from a formula they get from the pharmacy," Sara said.
They also take Kuvan, a prescription that allows them to consume more protein than the average person with PKU. Sara said her children eat 10-15 grams of protein a day.
On one of the days I visited their Nibley home, Sara was making her family’s favorite meal — breakfast for dinner. They had pancakes and pumpkin waffles.
“This is wheat starch," Sara said. "The wheat starch is wheat flour where they have refined out the gluten and it’s because the gluten is where the majority of the protein is. It takes wheat flour from a higher protein or higher phenylalanine food to a very low phenylalanine food."
She then used a dough enhancer to make it behave like normal flour, threw the batter into the pan and whipped up a batch of pancakes.
We have been very clear that PKU shouldn't hold you back from anything. -Sara Tye
Before each meal, Sara and Mike weigh and measure the food to make sure it fits the kids’ dietary requirements.
"We have been very clear that PKU shouldn’t hold you back from anything," Sara said. "If you want to do something, we’ll figure out a way to make it work. If you want to go away to camp, we'll figure out how to do the food."
"It's hard to be at the end of the day and the kids have eaten too much protein and they can't have anything that they want," Mike said.
Jackson, 8, Sawyer, 5 and Holland, 3 may not be quite old enough to understand the repercussions of PKU, but they understand the limitations. Even three-year-old Holland has a basic understanding of what she can and cannot eat, and phenylalanine, or "phe” as the family calls it.
"What do you do when you have PKU?" Sara asked Holland.
"Have milk," Holland said.
"What kind of foods do you eat? High-phe foods or low-phe foods?"
"Low-phe," Holland said.
Most of the time, the children cannot have the treats their classmates bring in to celebrate birthdays or class lessons, Sara said. Having a mutual understanding of PKU has given Jackson, Sawyer and Holland a unique sibling bond.
Sometimes, they help their mom cook, but more than anything, the three of them love to play on a trampoline in their backyard. As Sara said, they don't let PKU get in the way of their daily lives.
Over the last couple of decades treatment rates for PKU have escalated, in part due to a growing investment in medication that helps kids consume a limited amount of protein. Children born with PKU over the last couple of decades are growing up healthier and stronger.