I knew early on that something was "off" with Emmett. I wasn't sure what it was, but this mommy knew that he was different. At around 8 months old, Emmett was diagnosed with hypotonia (low muscle tone), especially in his core. He is also developmentally delayed and nonverbal. He recently learned how to crawl, pull to stand, and cruise around furniture. He cannot walk unassisted, but doctors expect him to, in his own time. He currently receives physical therapy, occupational therapy, developmental therapy, speech therapy, and Hippotherapy (therapeutic horseback riding) weekly. We also take him to a few holistic therapies periodically. This may seem like a lot for one little boy, but he actually loves it and has improved greatly since he started. Corbin also enjoys it because he gets to play with different toys and he knows all of the therapists by name.
Late in 2013, Emmett had made good progress, but was still delayed in all areas. I asked Emmett's doctor to refer us to a specialist, to see if we were missing something. One year later, after vision and hearing tests, an MRI, and 3 very detailed genetic tests, we finally got an answer. The first two genetic tests came back normal, but the third one showed a VERY rare gene mutation. It is currently called Xia-Gibbs Syndrome and very little is known about it. In fact, there are only 4 other known cases in the world. However, it is possible that there are other undiagnosed cases. We do know that the other children affected have similar traits and medical history, as well as developmental delays, hypotonia, and speech delays, but there are still many unknowns. We were told that this particular test could take up to 6 months to get the results, but we had the results in just 8 weeks. The news was surprising and a bit upsetting, at first, but it is good to have an answer and to know that we didn't do anything to cause it.
So what's the next step? Keep doing what we are doing. Emmett's diagnosis doesn't change anything about our course of action. It just gives us one more diagnosis code for his paperwork and another network of parents to compare notes with. Emmett may not be able to do everything that a typical 2 1/2 year does, but he is our son and we love him. He may not be able to say "I love you" back, but I feel it every time he gives me a hug. We don't know if Emmett will "catch up" or if he will always be a little behind, but we do know that God gave him and his brother to us for a reason and we are going to do our best to give them the best life possible.
As we start a new year, we are thankful that we have an answer and we will continue to embrace Emmett for who he is, no matter what the future holds. May God bless you in 2015.
