Story of Healing
Cajun and Chloe
St. Bernard Parish
By the time Heather gave birth to her fourth child in 2020, a son named Cajun, she knew she needed the doctors to administer a heel stick test to determine if Cajun had phenylketonuria, also known as PKU, a genetic disorder that causes an amino acid called phenylalanine to build up in the body, because Heather already had been through this before.
When Heather’s second born, Chloe, came into the world in 2015, she remembers the doctors administering a heel stick test for Chloe before they went home from the hospital. A few days later, the results were in, and Chloe’s pediatrician called and told them to go directly to Children’s Hospital New Orleans.
“I remember I was in shock; I didn’t know what to do,” shared Heather. “I had never heard of PKU before. But I did what our pediatrician told us to do. I called Children’s Hospital and they told me exactly what was going to happen when we arrived. When we got there, the doctors shared that Chloe had PKU, but everything was going to be okay, and they knew exactly what she needed.”
Chloe’s care team included genetic specialist Dr. Regina Zambrano and nutritionist Selene Muller. “They have been by my family’s side every step of the way,” said Heather. “In fact, I text Selene regularly, I consider her a part of my family.”
“Phenylketonuria (or PKU) is a genetic condition that causes the amino acid, phenylalanine, to build up in the body. If left untreated, the buildup can cause issues such as developmental delay, behavioral problems, or even neurological problems such as seizures. The main treatment for PKU is a strict low protein diet and a special formula,” explained Children’s chief clinical dietician, Selene Muller.
“I have been working with this family since Chloe’s diagnosis shortly after birth and now have the opportunity to manage Cajun’s diet as well. It’s been amazing watching them both thrive on their special diets. Because PKU requires frequent blood monitoring and subsequent diet adjustments, mom and I communicate regularly and have been able to establish a great relationship over the years,” Muller said.
Chloe’s care team was able to prescribe a formula and medication that regulated Chloe’s protein levels and equipped Heather with the education and resources she needed to continue caring for Chloe.
“The providers made a traumatic experience so much better, despite everything you read online about PKU,” shared Heather.
A few years later when Chloe’s sister Charlotte was born, Heather immediately knew she needed to have Charlotte’s heel stick test results expedited. Fortunately, Charlotte did not have PKU. But in 2020 when her son Cajun was born, Heather requested his heel stick results be expedited. “I just had a feeling that Cajun would have PKU,” recalled Heather. “But we were prepared. I was in touch with Selene right after Cajun was born. In fact, she even sent me formula to have on hand so that if he did have PKU, we could start him on the formula immediately.”
Heather takes Chloe and Cajun to Children’s Hospital weekly for checkups and tests. “We’ve gone to Children’s weekly for six years. We make a whole day out of it, and we feel at home there. They treat our kids like their own.”
“You know, I’ve never liked hospitals,” said Heather. “So, for me to walk in confidently knowing that my kids are safe and are well cared for. It’s amazing. And they don’t just care for Chloe and Cajun, they pay attention to my whole family.”
Even though PKU requires lifelong care, you wouldn’t know that both Chloe and Cajun are battling a disorder. Chloe is six years old now and is caring and extremely outgoing. “At first, Chloe was a little shy,” shared Heather. “But because we go to Children’s so often, she was able to come out of her shell and now she makes friends so easily.”
Cajun is almost two years old and loves to play outside and with his toy trucks, and he is always climbing on something. “I named him correctly,” Heather said with a laugh. “He really is a Cajun little boy.”
Click here to learn more about the Children’s Hospital Genetics team and how they care for kids like Chloe and Cajun.