McKay Update

*The picture looks much worse than it is, it was rough... but more on that later.

So it has been a while since I have done a McKay update. Things were going so well and things had seemed a little bit more calm. But usually when that happens something tends to come up, also we went to A LOT of specialists in the past couple of weeks.
The first specialist we went to was the Pulmonologist. I was pretty anxious for this appointment because I was very hopeful for some answer about McKay's chest size and to see if there was anything we could do about him not getting so sick. I absolutely loved the doctor that we had (I had a great referral). He was very good at what he does, answered all of my questions and explained everything in great detail. He had a number of concerns with McKay. The biggest concerns were:
-that he possibly had sleep apnea cause by his low muscle tone
-that is CO2 numbers were too high
-he was not taking deep breaths which meant that the bottom part of his lungs were dying because they were not being used,
-the actual shape and size of his ribcage and lungs.
So they sent us to do some x-ray's, a blood gas test, and the respiratory therapist at the hospital taught us some therapy we can do to help loosen the mucus in his lungs.
The blood gas came back normal. The X-ray showed that his chest is V shaped and the shape bells in, and there was also shadowing on the bottom of lungs. The shadowing either means part of his lungs have already died, or there is still some secretions left in there from the last time he was sick.
He felt like it would be a good idea to go ahead and do a sleep study to see how he was sleeping and what his numbers were.
The sleep study was pretty miserable (I would be miserable if I had 30 some odd sensors and electrodes hooked up to me to). But we survived! The doctor called this week with not great news. He has severe sleep apnea as well as sever decreased oxygen levels at night. (He said in one hour his oxygen dropped 50 times) So he felt like he need to go back on oxygen right away for sleeping. Eventually he will have to go on C-PAP but they want to wait until he is a little older. He is also sending us back to our Cardiologist. He is concerned that his Pulmonary Hypertension (the high blood pressure in his heart) may have returned because of the low oxygen levels. They are also sending us to the Cranial Facial Disorders clinic. There he will see a plastic surgeon, and ENT, an Orthodontist and a Malofaxial (spelling?) surgeon. They will all look at him and see if there is anything that can be done surgically to open his air ways and make it easier to breathe. (Yeah, that will bring our specialist count to over 9) The doctor is also hopeful that he is going to be able to get him Syngais (the RSV shot) as well this year. Everyone has agreed that if he does not get that shot this year he will for sure be hospitalized.
It was not quite the news we were expecting but we just have to take one problem at a time with McKay. I am glad that we went to the specialist and that the problems with his chest size and lungs are being addressed. I am very sad that he has to go back to wearing the tender grips on his cute little face for the oxygen. I love seeing his face with out medical stickers on it.
The next specialist we saw was the Orthopedic Surgeon. He did confirm that he does not have scoliosis and he probably never will. So he is now just focused on his chest size as well. He was happy that his chest size  had grown a little, but only 1 centimeter in 6 months. So it is now the size of 6 month old baby. It is a positive thing that it is growing. But he did mention he still may need surgery to help expand his ribcage. It's a pretty invasive surgery and he really does not want to do it. But he did say, if it comes to doing the surgery and him not being able to breath obviously we will do the surgery. So they will still be monitoring him for that. The good news is his Kyphosis (curve of the back) has improved!
We also saw a new Neurologist. I am very glad we made the switch. This doctor actually knew what the syndrome was that McKay has and has a patient with the sister syndrome of M-CM. He didn't have a lot of new information. But he went over everything, evaluated him, and went over specifically the abnormalities in his MRI. He talked about his next MRI (in January), what they will be looking for and what to expect. He was on board with us traveling to Seattle go see the geneticist who diagnosed McKay. The only new thing he had was his head size, it has grown quite a bit and is now the size of  16 year old male. It is actually larger than my head. We also have noticed in the past couple of months that one of McKay's eyes has been crossing. He confirmed this as well. We are seeing an Ophthalmologist in October, he most likely will need some sort of glasses or could need surgery as well.
On a positive note McKay is handling everything very well and has been doing very well lately. He just learned a couple of weeks ago to pull to stand. He loves crawling over to the ottoman and pulling up to play with his toys. He has started to figure out how to get down from standing but is not as confident. He gets such a big grin on his face when he pulls up to stand like "look what I did!" He also climbed all of the stairs by himself with very little assistance earlier this month. However he hasn't tried it again, I think it is pretty hard for him so it's not worth the effort. He has also started to say "Ma ma". He still is not saying it intentionality, but I LOVE hearing it everywhere I go and it make me so happy. He also has kind of mastered his first sign of "eat". He wont' do it when he wants something but if I ask him "Should we go eat?" he does it some of the time. He is making great progress and I hope it continues!