Diagnosis of Rare Disorder Leads to Even More Progress for Elena
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.
