Dr Dobyn's visit

So it is safe to say this was our biggest Dr. appointment yet for McKay. I knew that this appointment would hopefully be our best chance of some answers. Because let's be honest most of our appointments come with maybe one answer, a lot more questions and a "wait and see" finale. I went in with a list of over 20 questions. I have been keeping a list on my phone for over a year. Anytime I would think of something no matter where I was, I would put it in my phone.
They took us back for the appointment and took all of his measurements and weighed him. As usual the nurse didn't believe us when we said she would need a larger head measuring tape. The child one does not work on him anymore and they have to use and adult one. Then the genetic counselor came in and talked to us and got our FULL family medical history. They ask about every single person you are related to, and every single medical problem they have ever had. She then asked if it would be okay if Dr. Dobyn's brought in a few Dr.'s with him, we told him that was fine. He ended up bringing in 6 people with him! Dr. Dobyn's said he doesn't' normally bring that many Dr.'s in but he really wanted them all to see McKay in person. There were at least 2 other geneticist, and a couple of Neurologists. I am not even sure what the other two were.
Dr. Dobyns started by asking how we came to him. I explained our story of the NICU and no one know what was going on and being referred up to Primary's to a geneticist. I told him about our geneticist and that our geneticist had said he had tried to get a hold of Dr. Dobyns. Dr. Dobyns' told me he had not tried hard enough, I knew that and it felt good to hear!
He started off by going over the details of M-CM (they are possibly changing the name to M-CAP, still means the same thing) He talked a little bit about the other syndrome we had looked at MPPH, they are very similar syndromes but it mainly deals with just brain issues. M-CM deals with brain and body issues.
They had McKay go over to the exam table and they looked him over from head to toe, every single inch of him. Pointing to every "abnormality" that applied to the syndrome. Dr. Dobyn's said he could confirm with 100 percent surety that McKay did have M-CM. He said he had all of the genetic markers you could have for M-CM. He showed us his genetic test and everything. Even though we weren't really questioning the diagnosis, it felt good to hear that with out a doubt and from genetic testing it was all true.
He pulled up his MRI's and went over them with us. One of my questions was if we still needed to be concerned for Hydrochepalus. Especially because from his last MRI they said his ventricles were now normal size. He said yes, we did still need to be concerned about it. He said his ventricles were in the normal size range, but still double a "normal" size brain ventricle. He said probably for the next 2 years we would need to keep an eye on it. He also looked at his Chiari malformation or Cerebral Tonsillar Herniation (the area in the back of his brain by the neck). He said it was at a 4 mm, his previous MRI is had been at a 1mm. So we talked about what we would need to do with that. He does want us to go ahead and find a Neurosurgeon at Primary's and meet with one. He feels like it would be a good idea to have a relationship with one, before surgery was necessary. He believes in being conservative with M-CM kids and brain surgery of any kind (whether that be a shunt or decompression surgery). He said once any of these kids have surgery it affects their brain for life. So he really only wants a Neurosurgeon that is super conservative. He said he thought McKay's chances of having any type of brain surgery were about 30%, that is much lower than we thought so that is good news. He said he still is at pretty high risk for the next 2 years, until he is 4. After that the head growth slows pretty dramatically and they don't see as many changes. (That is if they have not previously required any neurosurgery).
We did also ask him about seizures. I was hopeful that there was an age that if he had not had a seizure by then he would be at risk anymore. But he said he could start having seizures at any time. He said his chance of having seizures is about 50-60%. I still am terrified of seizures.
He then proceeded to go into answering my list of questions and going into more detail about everything.
Here are just some of my questions and answers:
Life expectancy?
He said he should have the same life expectancy as anyone else. He did say, those with special needs sometimes have other problems or a shorter life expectancy. Like for instance if he was unable to talk and he couldn't tell us his side hurt and it was appendicitis. He said if he starts having seizures that could cause problems as well. But right now, a full life!
Possibility of tumors and abdominal ultrasounds?
With overgrowth syndromes there is a high possibility of tumors. So far he said he had only had 3 M-CM patients with tumors, only once of which was cancerous. But because they don't know enough about the tumors and M-CM he suggested we get an abdominal ultrasound every 6 months. Especially because he has never had one.
Could his sleep apnea be related to the brain abnormality Chiari (back of the brain by the neck)? 
He said he agreed that his sleep apnea was mostly obstructive. But he did feel like it would be beneficial to get a sleep study every 6 months to make sure it stayed that way. If his sleep apnea went from being obstructive to central (central being the brain isn't telling your body to breath) then that could be a big sign something is going on in his brain that needs to be addressed.
 How often does he need to be getting brain MRI's (this was a huge one for me, because no one knew)
He said he needed brain MRI's every six months for the next two years and then yearly after that. Things can change so rapidly and you need to see what is going on in the brain. Yes it is a lot, but I do feel a little better about this. I always worry that things are changing so much in there and I don't know what is changing or how it is affecting him. I have read of so many M-CM kids that did not show all the typical signs of something being wrong but something really was.
What did his PMG (polymicrogyria) look like?
This is the new thing that our neurologist noticed in our scan from December. He told me he had Perisylvian polymicrogyria among other abnormalities on his brain MRI. But this Perisyvlian Polymicrogyria can be something you have totally on your own, unrelated to a syndrome. So I had started to read up on it, and was terrified by what he read. He said to STOP reading about it. It affects kids with M-CM completely different than those that just have PMG. So he went into detail about how McKay's PMG affects him. He said it is the reason he still drools some (it really is not a big problem, I know a lot of other kids that have it much much worse than McKay). He said it is the reason McKay has eating and texture problems. It is kind of nice to know this, and to move forward. I think I may need to accept that I may not ever get McKay 100% on all regular table food. But it is good to know what we need to do to help him with his eating. The big thing that he said about his PMG was his ability to talk. He said he was not sure that he would really ever be able to talk. He said he didn't think he would be mute, but speaking would always be VERY challenging for him. I will admit it was a little hard to hear, but Kyle and I both decided we weren't going to wallow about it and just move forward. So we are now kicking our sign language learning into high gear. (I really wish now I had paid more attention in my American Sign Language class at BYU). So we will be focusing on using signs with McKay. I do think it will be our best way of communication. He already has about 6 signs that he can do pretty well when prompted!  He said of course we needed to wait and see about his speaking too, a lot can change. He gave us a few ideas and few things to keep an eye on for the future in regards to speaking. He said the area of his brain that is affected by his PMG is directly what affects speaking. Not the language part, so he said he probably understands a lot more than you think. He said his PMG was moderate.
Is he at risk for Autism?
He said yes. He said where the mutation in the gene is, is very close to where they have found Autism gene problems. He said there is a very wide spectrum of Autism so he could be anywhere on that spectrum. One of my therapists asked if I was upset by hearing this, and truthfully not to much. We have known for a while he is severely developmentally delayed and will be for the rest of his life. So to me it is about the same, just more of a label.
Where do you see his life going?
He said "I am sure you are wondering what the future holds for him". And yes truthfully I wonder almost every day what McKay will be like when he is older. The Dr. said there is a range, there are those that would require 24 hour constant care and there are those that would be able to lead a normal life. He said he is somewhere in the middle. He most likely will always require some assistance. Whether that is from us or from a home he will never be able to fully be on his own. Will he ever lead a fully "normal" life, the answer is no.

So I hope all this info doesn't sound like a major downer because honestly it was not. We were just so happy to receive some answers and some direction that it didn't get us down. It was a TON of information and we are still processing it all. I am VERY anxious to get the clinical notes from Dr. Dobyns. Most of the time the Dr.'s put way more info into the clinical notes. Plus then I can re read them over and over. We were very very happy with the appointment. We were very glad we made the trip up. We have decided we will be going back up to see Dr. Dobyns as well. He said that if we lived in Seattle he would have us come in every 6 months to check up. We have decided we will be going up every year for the next few years. It was so helpful and he had the most answers.

I hope it wasn't too "medically" wordy either, I am sure it was... Thank you to all of you who asked how the trip went and said extra prayers for us! We love you all!