Maverick Miller

When Naomi thinks back to Maverick's first few months of life, she remembers how quickly she had to absorb all the bad news.

Maverick was born six weeks early and spent seven days in the Neonatal Intensive Care Unit (NICU) at WVU Medicine Golisano Children’s.

About a month after he went home, his pediatrician detected a heart murmur during a follow-up appointment. Imaging tests revealed that he had a congenital heart condition called a ventricular septal defect (a hole in his heart).

Days later, Maverick had open-heart surgery and began his recovery.

Within weeks, genetic testing revealed the “why” behind his heart condition: KBG syndrome, a rare genetic disorder caused by a change in the ANKRD11 gene.

"When the genetics counselor, Kylie Vermeire, told me about the KBG, I think I was a little numb to everything that was happening,” Naomi said. “I didn’t understand right away the extent of how much his diagnosis would change our lives.”

Looking Beyond the Heart

KBG syndrome is a rare disorder that can affect multiple body systems, not just the heart. Children may also experience developmental delays and other medical concerns that require ongoing care. Some are evident at a young age; others emerge later in childhood.

Knowing that Maverick has KBG syndrome helps guide his care and connect him with the specialists he may need as he grows.

“Without knowing the diagnosis, it would be like walking in a tunnel,” Abdulrazak Alali, M.D., chief of the Medical Genetics and Personalized Medicine Program at WVU Medicine Golisano Children’s, said. “We would treat problems as they arise instead of looking at the big picture. With an early diagnosis, we can anticipate problems, screen for them, and address concerns early on.”

A Plan for Complex Care

Maverick needs multiple specialists taking care of him and communicating with each other routinely – the kind of care available at WVU Medicine Golisano Children’s.

“This is a condition that one doctor can’t manage alone because it affects too many systems,” Dr. Alali explained. “Every specialist on his team focuses on one aspect of his care. We see Maverick as an individual with multiple needs. Together, we can address concerns early on to help him fulfill his potential.”

Streamlined Care Means Less Stress for Families

For Naomi, another benefit has been the coordination between Maverick’s providers.

“The team coordinates our appointments on the same day, and all the doctors come to us in the same clinic,” she explained. “We’re not coming back three or four days in a row for different appointments.”

The approach saves time, reduces travel, and makes it easier for providers to communicate with one another. It also reduces the stress of frequent hospital visits. Naomi says the whirlwind of Maverick's diagnosis and heart surgery still affects her.

“Even just driving past Golisano Children’s after the initial shock of being hurled into heart surgery and then his diagnosis gives me a little anxiety,” she said. “Not having to come as frequently has definitely helped.”

Naomi said the support extends beyond clinic visits. After Maverick's diagnosis, Kylie connected her with a KBG syndrome support group and helped her find reliable information about the disorder.

“Every time Kylie calls to talk to me, I can tell that she's got a vested interest in how he's doing and how I'm doing,” Naomi said. “She always asks not just about him, but whether I'm doing OK. The staff makes you feel like family.”

Support Along the Way

KBG syndrome is rare enough that even experienced providers may encounter only a handful of patients with the condition. Alali only knows of a few children with KBG syndrome in West Virginia.

Naomi said the team has worked closely with her family since Maverick's diagnosis.

“As a parent, when your kid gets a diagnosis like this, you're hyper-vigilant,” she said. “The team has been fantastic about making sure we have the information and resources we need.”

Focused on What Maverick Can Do

Like many children with KBG syndrome, Maverick reaches milestones on his own timeline. “KBG kids do eventually walk. They do eventually talk,” Naomi said. “It's kind of a wait and see.”

For now, the family focuses on helping him develop the skills he needs and giving him opportunities to learn. Maverick will begin Head Start this fall, where he'll receive early learning support and spend more time interacting with other children.

Alali encourages families to focus on potential rather than predictions.

“My philosophy in genetics is that I try to avoid the word ‘prognosis,’” he said. “We focus on what he can do, where we can focus, and what his capabilities are.”

Through it all, Naomi said that Maverick remains a cheerful, outgoing child. He loves his older brothers, enjoys meeting new people, and is a big fan of Paw Patrol.

“Everybody needs the light Maverick brings,” Naomi said. “If you're having a bad day, it's really hard to look at him and not feel good.”