Years and many, many tests after our search for answers began, Ethan was diagnosed with a GRIN2A mutation in January of 2018 at the age of 13.
Our pediatrician suspected Ethan might be facing some challenges when he wasn't reaching milestones at 6 months old. Ethan's life has been compounded by interventions from that point forward.
Looking back, I'm not even sure how we managed to keep up with all of the appointments! Physical therapy, occupational therapy, speech therapy, behavioral therapy, Botox treatments, hamstring lengthening, blood tests, genetic tests, EEGs, MRIs, neurology appointments, the list is so long!
Ethan has worked incredibly hard to gain so many of the motor skills that most of us take for granted, not sitting up until he was about 18 months old and taking his first independent steps at the age of 8.
The scariest part of Ethan's mutation are the seizures. Ethan's first seizure was at the age of 3, it was terrifying. Fortunately his seizures are well managed with medication and we use monitoring devices at night, always fearful that a seizure may occur at anytime, without warning.
Ethan is still nonverbal, although he is definitely capable of letting you know he wants to watch baseball on tv, all day, everyday and that his favorite foods are pancakes, pizza and anything chocolate.
Despite the challenges that Ethan's mutation presents, I can't remember a single day that Ethan hasn't had a smile on his face!