Diagnosis of Rare Disorder Leads to Even More Progress for Elena

Elena with open arms.

Elena, 6, loves to show off her smile.

Young Patient Seen in Our Epigenetic Syndromes Clinic for KAT6A Syndrome Is 'Growing by Leaps and Bounds' 

Elena Phillipe was 26 months old and recently adopted from China when she arrived in Cincinnati. 

She couldn't walk. She couldn't talk. She was so weak she could barely stand up. 

Born with significant developmental delays, Elena needed medical attention and immediately became a patient in our International Adoption Clinic (IAC). 

It wasn’t long before her mother, Wynne, and doctors all suspected Elena suffered from more than just typical “institutional delays.” She was referred to the Division of Human Genetics, where an initial microarray test came back with normal results.

Questions remained, however, as Wynne still sought a diagnosis to explain the extent of her daughter’s development delays. Over the next three years, Elena had several follow-ups with our genetics team, met with various specialists at Cincinnati Children’s and continued occupational therapy, physical therapy and speech therapy. 

“During that time, she got much stronger, and her gross motor skills improved tremendously,” said Wynne. “She went from not being able to walk to running, jumping and flipping on trampolines, riding a bike, and taking a dance class.”

A diagnosis, however, remained a mystery. Elena’s receptive language improved but her expressive language did not. That means she was beginning to understand her new language, but still unable to talk.

She attended multiple speech therapy sessions each week to treat severe apraxia of speech, but as she approached 5 years of age Elena still had only a handful of word approximations. 

That’s when Wynne decided to go a step further and requested a test called whole exome sequencing in hopes of finding an exact cause for Elena’s developmental delays. 

Discovering the Diagnosis: KAT6A Syndrome

Elena was diagnosed with a rare genetic neurodevelopmental disorder called KAT6A syndrome. Her doctor of the past four years, Brittany N. Simpson, MD, director of the Epigenetic Syndromes Clinic, called Wynne to give her the news, explain the disorder and discuss specific treatment options for Elena available within the clinic.

“We don’t want to focus on something that doesn’t affect [our patients’] lives. We want to focus on things where they’re having the most issues,” said Simpson, noting that each person responds differently. 

“Our goal in the clinic is to have a separate place where patients with disorders of epigenetic regulation can come. We take a very holistic approach. That’s how geneticists see the world. Our job is to look at the whole picture.” 

According to Wynne, it was both scary and a relief to receive the diagnosis. It allowed her to see, for the first time, the whole picture of Elena and her condition. 

“It was scary because it meant that we were dealing with something more than just developmental delays. And it meant that Elena will likely deal with challenges, to some degree, for her entire life,” said Wynne.  

“But on the flip side, it was a relief to finally have an explanation for all of the mysteries that were Elena. It was nice to have a name for it. It was nice to be able to connect with the community of other parents. It was nice with school, because it opened up more services for her.” 

Online Schooling and Connecting with KAT6A Community

As a first-grade student at Johnson Elementary in Fort Thomas, Ky., Elena is taking part in online learning and virtual instruction due to COVID-19. In addition, she meets (virtually) with a special education teacher twice a week and also receives virtual speech therapy through the school three times a week, due to her KAT6A diagnosis. 

“We’re making it work for us,” said Wynne, noting that remote online instruction can be an adventure.  “Regardless, we’re having fun. I’m really hoping that my girls remember 2020 as a fun year with lots of family memories and not the worst year of their childhoods.” 

Now part of a KAT6A syndrome Facebook group, Wynne also feels fortunate to be able to reach out to others and ask questions of those who are walking similar journeys with their children. 

“Because of Elena’s diagnosis, we have now become part of a community of people who understand the joys and challenges of parenting children with KAT6A syndrome,” she said. 

And because of care and continued treatment she receives at Cincinnati Children’s, Elena’s improvement has remained steady. 

“She’s made remarkable progress,” said Wynne, recalling how Elena, with only a few words at her disposal, used to depend on hand gestures to get her point across.

“I would say now, at home, she’s typically using six- to eight-word sentences. Her progress has been ridiculous. She’s still behind other children where she should be, but she’s growing by leaps and bounds.”

Elena and family.

Elena and her older sister, Anna Grace, were adopted from China just after turning 2 years old. Both needed medical attention after arriving in the United States. Anna Grace required a prosthetic leg but in terms of developmental delays she quickly improved. After six months in the United States she was fluent in English. Elena, who would later be diagnosed with KAT6A syndrome, struggled for years to gain only a few English words.  

“It was a very stark comparison between the two,” said Wynne, which she noticed fairly early. “I knew that it was more than just [Elena] hadn’t had a lot of opportunity to practice these skills. I knew there was likely something more going on.” 

Elena stands and smiles.