By UNIVERSITY OF IOWA STEAD FAMILY CHILDREN’S HOSPITAL
IOWA CITY, Iowa — When Jessica and Tim Zabel brought their son, Mason (Independence, Iowa), home from the hospital at 3 days old, they thought he was a healthy baby. But just an hour after they arrived at their house, they received a call from their family doctor.
“We got a call that we needed to get back to the hospital — his newborn screening had come back positive,” remembers Jessica. “We rushed to the hospital, and they told us Mason had PKU and that it could cause permanent brain damage.”
PKU, or phenylketonuria, is a rare genetic disorder that prevents the body from being able to break down phenylalanine, an amino acid found in proteins and some artificial sweeteners. If left untreated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems.
“We were completely shocked,” adds Jessica. “Neither of us had heard of PKU. We didn’t know we were carriers, and we didn’t know what to expect.”
Mason’s local doctors put Jessica and Tim in touch with the genetics team at University of Iowa Stead Family Children’s Hospital to discuss Mason’s condition. Once additional blood tests confirmed his diagnosis, the Zabels were sent to Iowa City to meet with Judy Miller, ARNP.
“Judy was really good at helping us calm down,” recalls Jessica. “She explained that it was manageable through a diet and formula, and that as long as he stays on this diet and drinks formula for the rest of his life, he should expect a normal life.”
Mason’s PKU requires a low-protein diet and a medical formula to replenish nutrients he misses through his restricted diet.
“This diet is so important because if Mason were to not follow it, he would show signs of brain damage, tremors, and seizures,” says Jessica. “Many people have ended up in dependent care facilities.”
At first, knowing how to care for Mason was overwhelming, but the Zabels were able to rely on their son’s care team, including dietician Cheryl Stimson, RD.
“Cheryl has been amazing. She’s the one who calculates how much he should eat and how much he should get through his formula,” says Jessica. “She taught us how to measure his food and look for things he could and couldn’t have. She has even met us at grocery stores and helped show us the foods he could have.”
Today, Mason continues to grow and meet all of his developmental milestones. He returns to UI Stead Family Children’s Hospital four times a year to monitor his growth and development, and undergoes weekly blood tests to monitor his phenylalanine levels. “We also have to weigh, measure, and record everything he eats,” adds Jessica.
The Zabels are thankful for the pediatric experts who have helped their son thrive.
“We’re so grateful for everything the hospital has done for us,” says Tim. “They have the knowledge that other hospitals don’t.”
Mason’s bravery, his family’s dedication, and his care team’s compassion have come to be the perfect combination in keeping Mason happy and healthy.
“He wouldn’t be who he is today without (his team),” says Tim. “He has taught me to be strong; I mean I don’t know any 2-year-old that can get his finger pricked every other day and not cry. I hope Mason understands how much we love him and how much the hospital cares for him.”