Bowen was born growth restricted at 34 weeks on September 12, 2016. He was tiny (3lbs, 6oz, 15in), but mighty. After a month long NICU stay, he was ready to take on the world. He started doing PT at 3 months old due to his low muscle tone. Slowly, but surely, more therapies were added as he continued to miss his milestones. However, Bowen had a rough start. That first winter was a challenging one – he had 3 respiratory infections in a row, the last of which landed him in the hospital and required him to have continuous oxygen use. In addition, it was recommended that he have strabismus surgery due to the fact that his cross-eyes (common in babies born early) had not corrected itself. When you can’t breathe, and you can’t see, it’s not exactly surprising that milestones are being missed. And so, we pressed on with multiple weekly therapies and any other intervention that he needed (bronchoscope, tonsils & adenoids removed, 16 months of oxygen).

Finally, it was decided that we needed to do a Chromosomal Microarray. We were doing it initially just to “check the box”. We thought those early struggles in the first year were enough reasons for him to be behind. Six weeks later, we got a call from a geneticist stating that they had found an abnormality. Getting that call from the geneticist was one of the most heart-breaking moments a parent can imagine. We were told Bowen had a “moderate” sized duplication on the 19th chromosome, which showed a duplication of 200 genes. The doctor told us there was not much known about this condition. Of the 200 genes that had been duplicated, there was only 1 gene that doctors/researchers knew anything about. That gene was GRIN2D.

So, here we are. Bowen will be 3 in the fall. His biggest hurdle is his developmental delays. He hits milestones at his own pace. He currently has 4 different kinds of therapies weekly. His therapists are our angels here on earth. He also continues to have vision issues and is considered epileptic, even though his seizures are controlled. He lives each and every day with the biggest smile on his face, and a drive and determination that helps keeps us (his parents) going, as well. He is loved and adored by his two older sisters who slowly, but surely, are starting to understand that Bowen learns things at a slower pace than they did. They assist in his therapies where possible, and their joy in watching him accomplish the little things gives us so much pride. He is teaching them compassion, kindness and understanding on a daily basis that you really can’t learn anywhere else. 

There is a quote I will always remember that Bowen’s ophthalmologist told us right after his diagnosis. It’s a simple quote, but one very true. He said, “With kids like Bowen, we don’t yet know what we don’t know.” We choose to view his statement with a hopeful point of view, not only for Bowen, but for all children with GRIN Disorders. He is very rare…and very special. We know he will make quite the impact on all who meet him.