Sage was my first, and so far only, pregnancy. My pregnancy was a breeze and on my due date, I started having contractions. Once at the hospital, I had a fast and natural delivery…all seemed well. My mom noticed right away that something was wrong with Sage’s eyes. I told myself everything was fine and that it was just because she was a newborn. She was a healthy baby, but at 2 months old, I started to allow myself to admit that something was off. Her pediatrician did not seem concerned with her lack of tracking or engaging, but she did notice she had torticollis, so we started therapy for that.

At 4 months old, the low tone was very noticeable. Sage could not even begin to support her head or sit up. She had not yet rolled over or reached any cognitive milestones. Her doctor was now concerned and sent us to OHSU for an MRI of her brain. What an ordeal that was, but it was necessary. Results came back and everything was normal. Because of this, the neurology department put her on a 1 year plus waiting list. Thankfully her pediatrician said NO to that and called herself to advocate for Sage to be seen immediately. We got in less than 2 months later. At 6 months old, Sage was given the clinical diagnosis of hypotonic cerebral palsy. It got her the services she needed, but I was never at ease with this diagnosis. How does this happen?! It just didn’t make any sense and as a mother, I constantly dissected every part of my pregnancy and delivery and blamed myself…this somehow had to be my fault.

Over the next 6 months, we made the drive to OHSU a lot for testing and follow ups. EVERYTHING always came back normal. It seemed like we would never know what was going on. At 1 year old, we were referred to the genetics team. A few things were tested for and all came back normal. Then we did a chromosome study, which also came back normal. There was one final test to do. Genome Sequencing! If this extensive test didn’t pick anything up, then we were done with diagnostics. I never expected them to find anything. I had mentally prepared myself for never knowing. Shortly after her second birthday, I got the call. Sage has a, so far, unique gene called GRIN1. It was not passed down from me or my husband, but it is a “mutation”. I cried and cried. These were tears of relief, almost happy tears…we got our answer finally! This isn’t a great answer because the condition is so rare and her doctors still can’t tell us what to expect, but it is better than no answer.

I still felt so alone. Her doctors did not know of any support groups and said we were one of maybe ten in the world. My sister and cousin found some GRIN groups on Facebook. I have always been anti-social media, but broke down and created an account to connect with other families. I am so glad I did. What an amazing, growing group of families!

Our little, sweet Sage makes progress with therapy. She has always been an okay eater, but cannot feed herself. She loves bright, flashy things and silly noises. Her favorite thing to do is bounce and rock. She also enjoys sitting outside and watching the leaves in the trees. She is a lot of work and our lives have changed forever, but I am glad she is mine. We love her dearly…she always has a way of making you smile.