Triple threat

We had three pretty important doctor appointments this week, it was a lot of waiting in doctor's offices!

The first was the geneticist up at Primary Children's. I admit I was pretty anxious for this appointment, I wasn't really sure what to expect out of the visit, but was hoping for a few answers or somewhere to start. Our doctor's name is Doctor Vischokil and he is fabulous! We feel very fortunate that we were able to get into him! One of our Neonataligist pulled some strings and made it so we had to get into him. In March his waiting list was until August! He has a lot of experience with syndromes dealing with large head size. He went over all of our family history, every single detail down to cousins. Then he looked over McKay, every single inch of him. Measured everything on his head and face and every body part. Right now we are thinking that he does not have the original syndrome we thought. However there is a new syndrome that a Geneticist in Seattle has basically discovered. It is kind of a combination of 3 different syndromes. The PCMC Geneticist is leaning towards this syndrome. I can't really link you to any information about it because there really isn't any on the Internet, it is so new. So the next step is that they are entering us in the research program through the University of Utah. This way our geneticist at Primary's, the neonataligist geneticist at Utah Valley, and the new geneticist in Seattle can work together on this. I got the feeling this will be a very long drawn out process. In the mean time he is still concerned about his head size (what's new, we have heard that continually since January!) With this syndrome there is a very high change of Hydrocephalus (Extra fluid in the brain), so we now have to take him into our pediatrician every two weeks to measure his head. They want to keep a close eye on it, if he does get extra fluid they will have to put a shunt it. The geneticist also wanted to go ahead and do the follow up MRI when he is 6 months. It was a good visit, I came out feeling like we were headed in a direction and were not wondering aimlessly if something was wrong.

He also had an appointment with his cardiologist this week as well. They did and EKG and Echo cardiogram. Both came back great and normal! It was pretty fascinating to watch them do an ultrasound of his heart. I really couldn't tell what most of it was, but still interesting. His pulmonary hypertension is not back. His ASD or small opening has still not closed. The doctor things that it is closing because there is tissue surrounding it. So she just needs to see him in 3 months to make sure it has closed.

We had an appointment with our pediatrician mainly to fill him in on what the geneticist said. We also went over all of the other problems he previously had to make sure they were being taken care of, or were resolved. He measured his head and it is not following the correct curve on the age graph. It should go in a curved patterned to show it is growing with him and his age. However his goes more straight up. So the doctor was a little concerned. He is going to give him 2 more weeks and if his measurements are not curving more they will do a cat scan to see if there is any Hydrocephalus. I had also noticed that when McKay sticks his tongue out (which is a lot, he loves his tongue) it kind of V's back in, like a heart. I mentioned it to the doctor and he gave me a medical term, but it is called "tongue tied". There are two types, the 1st type is when the tongue is attached higher up than it should be. In this case they can clip it so it should fix the problem. The other type is there is no where to clip, it is basically the shape of the tongue and there is nothing you can do to fix it. Of course we have the 2nd. So I asked him what that meant and he said he will most likely have speech problems and issues and will require a speech therapist. We will have to wait and see how much it affects him once he gets a little older.

So there was some good, some bad, and some interesting news for the week. I keep feeling like we should be done finding new things that are wrong with him, but that is not the case. I think in my mind I am just waiting for my little baby to be the perfectly healthy baby I thought he would be. But each day I come to terms more and more that this is our life now. No matter what the future holds for us and McKay I will always love him. Nothing could make me love him any less. I can remember saying to my mom while he was in the NICU, "I am just so scared, I just want him to have a normal life." She said to me "It will be normal for him." I often think of what she said, he may not have the life my other kids do and maybe he will, but no matter what he will be loved and have an amazing life!