Jaxon Baby

Well, I thought I would start this blog to update people on our cute family, but also as a resource to keep track of our progress with Jaxon. This is probably mostly going to be for Alex and I to be able to get our thoughts out and to help us remember certain things, but I hope that it may become a resource for other families dealing with this diagnosis.
Jaxon was born October 18th 2007. Our first baby boy. We were over the moon with excitement. He weighed 6pounds 15ounces and was 19 1/2 inches long. He was the littlest of our 4 babies. I remember my mom commenting on how wide his mouth was. We went home and everything was wonderful. He had the cutest little hoarse cry. He had creases under his eyes and they would bulge a little when he cried, but that is just because he was a newborn and swollen right?
Fast forward to the 2 week baby check-up. All is well and then my husband happens to ask the doctor if he thinks his bone structure around the eyes is okay. (because of the bulging) The doctor feels and puts us at ease that it is fine and then he says... "as long as we have all noticed that something is off in his appearance, let me get a book and show you what I think it might be."
Then he left the room to get his book. He was gone for probably 10 minutes and at first we were still fine until it sank in that he was getting a medical book to show us what our baby might have. I turned to Alex and said this is not good.
When he came back in with the book he started reading us the characteristics of Williams Syndrome and I immediately began to cry. He said he would give us a few minutes alone to look over the few pages in this book. My attention immediately went to a picture that although not as cute, looked a lot like my little guy, and then I saw one of the characteristics was a hoarse voice.
Well, this is the part where I tell about our amazing family. When I left the hospital my dad happened to call. I of course was still crying and tried to tell him what the doctor said. He then had my mom call me. My mom was at a doctor appointment with her dad. My aunt was also there. So as I am telling my mom what little I know about Williams Syndrome, my aunt is on the phone to my uncle who is doing an internet search about it. We got home and my mom showed up, and 2 of my aunts, one with dinner. I always liked having so many family members near us, but it was in this moment that I realized the true blessing of it.
We went the next day to Primary Children's to have a blood test done. This would take 8 days to get the results. A few days later we met with a geneticist who checked him over. By this time we had done a significant amount of internet searching and reading and was fairly familiar with the characteristics. One of them was a wide mouth (check), one of them was that they tend to be on the small side of things and probably would be smaller than other siblings (check), and we already established the hoarse voice. Well at the end of the meeting he told us he wasn't positive that he had it and would put his guess around 60-70 percent sure.
All we could do at this point is go home and wait 2 more days for his call.
Friday rolled around and Alex had to work. I didn't want to be alone when I got the call so I asked my mom to come and stay with me. Minutes seemed to drag by and every time the phone rang my heart would drop. Finally I couldn't take it anymore so I called and left a message with the geneticist to please get back with me. He called back a few minutes later and confirmed the diagnosis. I was devastated. How could I call Alex at work and tell him that his little boy was not going to be the little boy that he had dreamed about. I felt awful having to tell him at work. He was all alone, I was lucky enough to have my children, mom and sister with me. So, I called him. I don't think I really even said much, but I didn't have to. The sobbing said everything. I decided to get the kids in the car and drive to his work so we could be together for a little while.
For the next few weeks, I would just start crying, anywhere, the grocery store, in the car, on the phone while paying bills. It got to the point where every time I had a little sniffle my 4 year old would say " baby again mom?"
It has now been 6 months since the diagnosis. I would say that most days are good ones. We have been blessed with this beautiful amazing boy who is love. That's the best way I can describe him. He is often grouchy and won't let you get away with setting him down, but he has this amazing spirit and feeling that accompanies him. You can't be sad about him when he wraps his little fingers around yours or when you look into his stunning blue eyes. He is LOVE.
I know that often times parents of children with different disabilities or syndromes say that they wouldn't change them for the world. I'm not sure that I am to that point yet. If I could have my Jaxon and give him his 20 missing genes(out of 30,000) I think I would. I do however know that this little angel who is now squirming around on my lap is going to be an extraordinary blessing to our family and to anyone with whom he comes in contact. We all will be better people for knowing Jax.
Children with Williams Syndrome often times aren't diagnosed until between 1 and 2 years of age. We are lucky that Alex mentioned the eyes to our doctor because although he had his suspicions about it he wouldn't have said anything until he noticed some delays in his development six months to a year later. Knowing early has allowed us to familiarize ourselves with what we can expect and to get him proper care. He had an ekg when he was 1 month old and has mild aortic stenosis (thickening and narrowing of the aortic valve) We meet once a month with a therapist who will work with him and try to help him meet milestones at an average time. So, all in all we are lucky for the early diagnosis and the chance to give our baby the best start possible.