Jameson was born February of 2017 via emergency cesarean. Labor and delivery was very traumatic for us both, but once they placed him on my chest all the worries seemed to fade away. At 3 days old he was transferred to the nearest children’s hospital after nurses suspected he was having seizures. After a week in the NICU and several tests to rule out seizure activity, the concerns were attributed to birth trauma and he was given a clean bill of health. After this initial scare, Jameson appeared to be a typical and healthy baby for the next 6 months. I voiced concerns to his pediatrician when he was failing to meet milestones but he reassured me that Jameson was just a slow learner and that he would catch up. By 9 months he was still unable to sit unassisted and I knew in my heart that something wasn’t right.


Upon switching pediatricians there was immediate concern. We were referred to a neurologist for further testing to rule out Cerebral Palsy given his traumatic birth. Test after test came back clear and with CP ruled out we were back to square one. Finally we were referred to a geneticist where, through a test known as the Autism/ID Xpanded panel, we learned of Jameson’s GRIN2B mutation. I can’t begin to describe how terrifying it is to be told there is little known about your child’s condition because it is only diagnosed in ~100 patients worldwide. Science has never been my strong suit but once the initial shock had worn off I began to research.


I found the GRIN2B parent support group on Facebook and I didn’t feel so alone. I read everything on grin2b.com and I didn’t feel so scared. I slowly came to terms with his diagnosis and started to move forward. It hasn’t always been easy, and it may never be, but it will ALWAYS be worth it. He will ALWAYS be worth it. Jameson struggles with developmental delays, hypotonia, mixed receptive-expressive language disorder, a bifid uvula, and a submucous cleft palate. He wears glasses for farsightedness and recently began taking anti seizure medication. His diagnosis came with a list of things he may never do, but thanks to amazing therapists he has made tremendous progress already.


He has been a fighter from the very beginning and his determination is inspiring. He is the silliest, sweetest little boy who melts hearts with his big blue eyes and contagious smile. He loves music, water, playing outside, and animals. He is so much more than his GRIN2B diagnosis, but it is what makes him unique and I will always share his story with pride. Please feel free to follow us on Facebook at Jameson’s Journey with GRIN2B!