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.”
(Published November 2020)