Cece had “normal” development until around 4 months old when we noticed stiffness in her legs and almost no progressive movement of her arms. At 6 months old she missed most milestones and by 12 months of age had barely reached a third of the 6-month milestones and was losing abilities that she previously had, like smiling and laughing.

She was diagnosed with Autism Spectrum Disorder (ASD) at 18 months old and it was her developmental-behavioral pediatrician who urged us to keep looking for answers because the ASD diagnosis did not reflect the regressions and profound delays she was experiencing. 14 months later we had a definitive answer from genetic testing, a GRIN2A-related disorder.

Getting the phone call and hearing the list of possible symptoms was surreal. It was like the geneticist was reading straight from her medical chart…

-Global delays- including gross motor, fine motor, and speech.

-Hypotonia

-Developmental regression

-Cognitive impairment

-Behavior disorders

-Epilepsy

-ASD

Cece was clinically non-verbal until 2.5 years old. She didn’t sit up on her own or crawl until 17 months old and on her 3rd birthday she learned how to walk independently.

There are so many things that Cece still can’t do, like using utensils to eat.

And so many things she refuses to do because, as we like to say, she is a “will over skill kind of girl” and she just does not like to be told what to do. 

But then there are so many things that she CAN do… including things that we were told likely wouldn’t be in her future, such as imaginative play. She loves to play with her kitchen and pretend to eat different foods. She is using 2 and 3-word sentences and is very loving and cuddly with her family… when she wants to be.

She has taught us to celebrate all of life’s small wins and more patience than I ever thought possible.