Eleanor is our sweet 2-year-old who has GRIN1. She seemed to be a typically developing baby until around 4 months old when we noticed she wasn’t tracking objects or looking at faces. We took her to an optometrist who said her eyes looked normal. We started early intervention at 6 months old when Eleanor wasn’t meeting her motor skills milestones. Shortly after, we saw a neurologist who diagnosed her with Cortical Visual Impairment (CVI). We saw little bits of improvement with lots of therapy over the next several months but we were still concerned that she was significantly developmentally behind and felt like there was more than just a visual impairment. We did a brain MRI and also decided to get genetic testing done to rule things out. 

 

We got the dreaded call when Eleanor was 14 months old. Her neurologist said the genetic testing came back showing a mutation of the GRIN1 gene. He sent us what little information was available and we spent the next several days on Google trying to make sense of the chaos that had taken over our lives. 

 

Since then, Eleanor has had an amazing team of therapists working with us to help her. She has made so much progress over the last couple years. Her vision has improved, she’s eating many different textures, rolling all over the floor, and learning to sit and stand with help. It’s a giant mountain we are climbing but we celebrate the little victories along the way. Her laugh is the best part of our day. She loves dancing, swinging, playing in her bed, eating, and snuggling with Mama and Dada. 

 

It’s a roller coaster ride with our girl, but we fight hard and love hard to make the best life for her that we can.