Jonathan

We were pregnant with our second child and we could not have been happier. It was another boy! My pregnancy was perfect and after 39 weeks, we went in for our scheduled c-section. On December 20, 2016, we welcomed Jonathan James Ambler into the world. He was perfect! At around 9 months old, our pediatrician expressed some concerns about Jon not reaching his milestones. I thought that maybe Jon was just taking his time crawling, as he was perfectly comfortable sitting and being cuddled by mommy. But in any case, we took the word of our doctor and we got Jon enrolled in various home therapies.

We were then told that we should see a neurologist. After having an MRI and blood tests, all which came back normal, we were told that the next person we should see would be the geneticist. She ordered a Whole Genome Sequence test and two months later we had our diagnosis. With all of the other tests coming back normal, I was not prepared to hear what was being told to me over the phone. We were asked to come into her office to have a consultation in which they told us that Jon had an extremely rare genetic disorder called GRIN1. We went from thinking that our child was experiencing normal delays to learning that he may never catch up. 

Getting this diagnosis gave us more questions than we had at the beginning of our journey. We were told that there were only maybe 100 patients world wide that were diagnosed with this disorder and because of this, there was very little known and our best sources would be getting in touch with parents of other children affected by the disorder. To say that our hearts were broken would be a huge understatement. All of our thoughts of how life would be were changed in an instant. Today, our days are filled with therapists and doctors and things that should be easy are more of a struggle. We know that life will never be easy, but we also know that our boy is more special than we could have ever imagined...he grows stringer every day. When he laughs, you can't help but laugh with him. And when he looks at you, all you feel is love.

While there is still so much unknown about his disorder, I do know that Jon will always be surrounded by love and family and friends who support him and be there to celebrate all the special times in his life. I know I am the parent and he is the child, but I have learned more from him than I ever expected. He has taught me about patience, strength and that the best things in life take time to grow.