Our daughter, Noa, turned 19 recently. Through genetic testing, we received her diagnosis of
GRIN2B-related disorder shortly after she turned 16. We had genetic testing performed when she
was a toddler but the results were inconclusive. We are grateful to Noa’s pediatrician, who
suggested that we try again as, unbeknownst to us, there had been massive developments in
genetic testing she had last been tested. Sure enough, we received a call from the geneticist
notifying us that indeed we have an answer.
Learning of this diagnosis after so many years of unanswered questions was incredibly surreal but
also clarifying so many ways. It was a relief to know that we had some answers and, amazingly, the
list of symptoms of this disorder read like a manual of Noa’s developmental issues and even certain
personality traits. So many pieces to the puzzle fell into place. It also opened a new world for us via
social media consisting of hundreds of families across the globe who are grappling with this
challenging disorder and related conditions.
Despite her challenges, Noa lives a full and vibrant life. Noa has always been extremely social and
loves being around her peers. She just started her senior year of high school at an incredible
special needs boarding school where she lives in a dorm with ten wonderful girls, performs in the
school musical, and is on the cheerleading team. She loves pop culture and can often be found
making videos on “Insta”.
Our journey has been a struggle with lots of unknowns, but we are grateful for the GRI community
and hopeful for the treatments that are so many are working on developing.
