Genetic Testing Provides Answers for Kayden

In November 2020, Kayla and Gregory were thrilled to welcome home their first child, Kayden. At his second newborn visit, however, his pediatrician noticed Kayden wasn’t gaining weight or growing. While admitted at their local hospital, the new parents learned their son was aspirating while eating, causing him to vomit and forgo the nutrients he needed to grow.

“The amount of calories he was burning through while eating weren’t sufficient for the amount he was getting,” Kayla said. Doctors gave Kayden a nasogastric (NG) tube so he could receive formula through his nose, but he could not keep the formula down. His care team tried adjusting the sizing and timing of his feeds to no avail. 

“At this point, he had been hospitalized 10 times, and we weren’t making any progress,” Kayla said.  

Desperate for answers, Kayla and Gregory began looking around for a second opinion.  

“We started researching the best children’s hospitals and zeroed in on Lurie Children’s,” Gregory said. “We saw they have their own special gastrointestinal (GI) floor, and everything clicked for us.”  

At Lurie Children’s, Kayden’s team of doctors ran a series of tests and determined slow motility was causing him to vomit. After a few months with prescribed medication, he could receive feeds without any problem.  

Still, the team hoped to find the exact cause of Kayden’s condition. A geneticist, Dr. Carlos E. Prada, met with Kayla and Gregory to offered large-scale genetic testing, which would provide a deeper look at Kayden’s DNA than standard genetic testing. The parents waited nearly four months for the results. 

Finally, the day before Kayden’s first birthday, the results arrived. Genetic testing revealed Kayden has Wiedemann-Steiner syndrome (WSS), a rare genetic condition that can cause growth delay, distinctive facial features and intellectual disability. Around the world, there are fewer than 1,000 documented cases of WSS.  

“I describe the day we got his diagnosis as the best and worst day of my life,” Kayla said. “As his mom, I’d been feeling like maybe we weren’t doing the right things. It was really reassuring to know this was nothing we could’ve prevented or caused. Still, we were just in disbelief.” 

From there, Kayden’s team, which included a geneticist and genetic counselor, began to put the pieces together. WSS caused his severe motility disorder and also affected his growth and hormones. Kayden also has agenesis of the corpus callosum, a rare disorder characterized by the absence of brain tissue that connects the two hemispheres of the brain, causing short stature and developmental delays.  

“This made sense to us, because he didn’t start rolling over until he was about 12 months,” Gregory said.  

Kayden’s care team met with Kayla and Gregory to discuss feeding options. Together, they agreed the best course of action was total parenteral nutrition (TPN), a method of feeding that bypasses the GI tract by giving formula through a vein.  

Because WSS often causes fevers in children, Kayden is admitted to Lurie Children’s fairly often for monitoring. “Our inpatient stays are an overall great experience,” Gregory said. While inpatient, Kayden loves visits from a music therapist, who uses his favorite music and nursery rhymes to promote comfort and work on developmental, physical and expressive goals. A speech therapist also helps Kayden with learning how to eat pureed food and drink water out of a cup.  

Kayla and Gregory are grateful for the all-encompassing care their son receives at Lurie Children’s and the support that alleviates their stress. “His social worker is extremely helpful,” Kayla said. “She helps us manage our expenses and sits down with us to be a person we can talk to. Because we live in Indiana, we usually stay at the Ronald McDonald House. It’s been a real blessing for us.”  

Over the last three months, Kayden has started crawling and reaching new milestones. He continues to follow up with a team of specialists at Lurie Children’s, including immunology, endocrinology, and urology, and is building up the strength to tolerate larger feeds so he can keep growing.  

“Taking Kayden to Lurie Children’s was the best decision that we’ve made with him,” Kayla said. “His team puts in a lot of effort with him. They always take the time to talk with us, they tell us what they’re thinking, and give us options. They make me feel like I can never ask them too many questions; they really address our concerns. Now that we’ve been at Lurie Children’s, we wouldn’t take our son anywhere else.”  

About Lurie Children’s Division of Genetics, Birth Defects and Metabolism 
The Division of Genetics, Birth Defects and Metabolism provides a full range of services for the diagnosis, counseling and treatment of patients with genetic and congenital disorders. These abnormalities include birth defects, intellectual disability, short stature, genetic syndromes and metabolic disorders. Our physicians have gained an international reputation for their expertise in evaluating and treating neurofibromatosis, phenylketonuria, which if untreated causes intellectual disability, and lysosomal storage disorders, such as the mucopolysaccharidoses, Gaucher disease, Fabry disease, Pompe disease and many others. We care for approximately 2,500 infants, children and young adults each year. Learn more. 

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