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!

Missionaries

 So for Family Home evening a couple of weeks ago we talked all about Missionaries. We talked about why people go on missions and how wonderful it is. Kyle told the kids why he went on a mission and then bore his testimony in Spanish.
I had a "mission call" for Carson and for Brynnley. They were so excited to open their calls and see where they were going.

 We also talked about Grandma and Grandpa Randall on their mission and what they were doing. We also drew pictures to send to Grandma and Grandpa Randall on their mission for our activity. Brynnley drew a rainbow with her and Grandma Randall. Carson drew Africa with the "roots" as he said and a picture of Grandma and Grandpa Randall. They were also wearing shirts with Carson on them!

  Recently Elder Holland visited my parents on their mission and viewed the Sierra Leon mission. It was a wonderful experience for my parents, one that they have said they would never forget.

Here is a few snippets from my moms journal about the week they were able to spend with all of the General Authorities that visited their mission.

"Scott and I parked at the top also and Scott got out to help everyone know where to go.  At the top of the hill Elder Holland put his arm around Scott’s waist and held on while they both walked down the hill and to the door of the mission home.  It was a wise move, because the hill is steep and there are small rocks on the road, which could be very slippery.  Elder Holland expressed appreciation to Scott and put his hand up on his cheek gently.  It was a very sweet and special moment."  "We were helping Elder Holland and Elder Snow with the password for the mission Internet, so they could check their Blackberries.  We had a very comfortable visit with them for about 15 minutes.  They asked about our background and it came out that we had served two previous missions.  Elder Holland said, “Well, that sacrifice has assured you your salvation.  Do you remember the story of the young men who carried the handcart pioneers across the Sweetwater River?  Well I think that story has application here.”  I was overwhelmed with gratitude for such a sweet validation of our desire to serve missions as well as the service of all of the senior missionaries around the world.  I will remember and cherish it always.  Elder Snow said, “What an example you are setting for your grandchildren.”  I told them that our oldest grandson was almost 14 and that the rest of our grandchildren were still quite young, but it was such a special moment, that I will not forget. "

"What a beautiful, inspiring day!  Tears came to my eyes as I saw those beautiful African women dressed in their very best, singing “As Sisters in Zion.”  The thought that came to me was how grateful I was to have been called to Sierra Leone and how grateful I was to my children for allowing me to have this wonderful experience by supporting us on our mission.  As I hugged each of those African women, I told them how much I loved them and how blessed I felt.  I hugged each of the sisters who spoke to us and they each were gracious in gratitude.  Sister Holland thanked me for being here every day to teach the sisters.   Words cannot describe what a spiritually uplifting day it has been."

The last picture is one that Carson drew in Priamry. The Sunday before our FHE lesson they also talked about Missionaries in church. He came home with this picture so I asked him what was in the picture. He said it was a picture of him and Cohen (his best friend) as missionaries. They were teaching all of the people. When I asked who the guy in the purple was he said "Oh that is Justin Bieber bringing us some Ice cream!" Love all of it!

Hello Seattle

 So, this will be a two poster post. I am going to do a whole separate post about the actual Dr. visit and that will be INCREDIBLY long, so here is your warning.
So we received McKay's initial diagnosis of M-CM last April. It took 15 months to get a diagnosis. I can say with confidence we only got a diagnosis because I really pushed it and took it upon myself to get a hold of the Dr. After we got the diagnosis we talked about going up to see the Dr. that diagnosed McKay. He is a leading geneticist in the country, and the Doctor that discovered the syndrome of M-CM. We decided it would be worth it for us to go up to Seattle to see him. We decided to wait and schedule for the fall. We couldn't get an opening so I kept calling. Relentlessly for 6 months. Finally in November they were so sick of my calls, they said his March date had finally opened up and they got me scheduled for March. Yes, this appointment took over a year to get to!
We decided to make it a little bit of a quicker trip and just take McKay with us, and not the other two kids. Trust me, they didn't miss us for a second. Grandma and Grandpa Ford took them out to dinner, out to a movie, to the Aquarium, to Chuck E Cheese, and out for ice cream.
We couldn't take McKay on a plane because of the germ risk so we drove. We drove to Boise the first night. McKay had started a fever 2 days before we left. No other symptoms but a fever. We took him into the Dr. to see what he thought and he wasn't sure. He still had a fever the morning we were suppose to leave. We called our Dr. again and then called up to Seattle to see what our options were. They said they could not get him in until August if we canceled that appoitment. He only sees patients once a month, and only 5 patients in that day! So we decided to chance it and hope he was better. (Fever broke Saturday night!) He slept very well on the way up, mainly because he didn't feel well and had lots of Motrin in him. We had planned to drive farther than Boise, but our Dr felt strongly we needed to be near a hospital just in case. Luckily we had oxygen already and an oximeter to keep an eye on his oxygen.

We drove the rest of the way the next day and were very happy to have finally arrived and be out of the car. We are so incredibly lucky to have such wonderful family friends that live just an hour out of Seattle. Plus, their house is so incredibly gorgeous!
The Gamblins are friends of the Ford's and have been for years. David (Kyle's dad) and Alan Gamblin were mission companions and their families have stayed friends ever since. Kyle and I had such a great time with them. The food was delicious (I want to move in for a week and just take notes on Jeri's cooking), the place was beautiful, and the company was fabulous! We had so much fun just talking, playing games, or watching tv with them.

 On Sunday everyone headed to Stake Conference. Since McKay couldn't go out in public we decided to go out and go for a walk. McKay was so incredibly happy to be outside. It is BEAUTIFUL in Seattle. Kyle has been trying to convince me that someday we could move to Seattle. Up until now I have said no way, but after this trip I fell in love with the beautiful state. I LOVE this picture. I have a very hard time getting McKay to smile especially for pictures, it almost brought me to tears after I saw the picture. (I don't love me in the pic, but I don't care...) Sunday was very low key. We had a wonderful meal and went on a short walk. McKay would crawl over to the window and cry to go outside.

 We headed out early Monday morning to head to Seattle. We left plenty of time because we were not sure how long it would take us to get there. We got there pretty easy. What a hospital, it is huge! We got checked in and attended out appointment. It went incredibly well. (More on that later). We decided to just go ahead and head back home after the appointment. We were all a little exhausted and McKay didn't nap well so it was a little bit of a long drive. We got to a hotel and didn't even want to take time to get dinner. So we ate some oranges and pringles from our snack bag for dinner and fell asleep pretty quickly.

The drive through the Oregon mountains was beautiful, we did hit a little snow but it wasn't for too long. The rest of the drive went pretty well. It's always the last two hours that drags on a little bit. We were happy to be home and happy to see the kids. We came home and they were both sick with colds. Poor kids (and poor Grandma).
It was a great trip, it was great just getting out of the house. I have to say my favorite  part was having some alone time with Kyle (well alone with McKay). We haven't done a road trip in a very long time and it was fun to just be in the car for a long time just talking and laughing.

Bonnie Jean Hubbard

 We lost a wonderful Mother, Grandma, Great Grandma, Friend and lady a few weeks ago. Kyle's Grandma Hubbard passed away pretty unexpectedly on the 20th of February. She was a wonderful person and will be greatly missed.

 I was very glad that I was able to help in some way, since we are still stuck home bound. I was able to help make a photo collage video that was shown at the viewing. Kyle's sister Heather helped me pick out all of the pictures and I think it turned out really beautiful

 The funeral was a beautiful service and was a wonderful tribute to this wonderful lady. What an amazing life she had and what an influence she had on all of those that were in her life.

 These were the flowers my parents and family sent, my Mom wanted to see a pic of them.

 This was the photo table set up at the viewing.

She was buried up at the Salt Lake cemetery in the Mausoleum. She was a nurse in the Korean war so she had a 21 gun salute with taps as well. The war veterans did a beautiful job. Kyle also had arranged to have dove's released at the graveside. It started out as a joke, but ended up being everyone's favorite part. They released 20 doves from cages and then Kyle's grandpa released a dove from a basket symbolizing his wife Bonnie. It was breathtaking to watch it all. The dove's flew up and then circled around us. The single dove was released and flew up to join the others, it was absolutely beautiful.
We are all very sad to not have Grandma here, she is greatly missed. But we all know she is in a better place and is so happy. We love you Bonnie Jean Hubbard!

Jr Jazz 2012

 Carson just finished his 2nd year of Jr. Jazz basketball. He loved every minute of it. He has definitely improved from last year and understands the game a lot better than last year to. He was really good at defense. He would get right in the face of the guy that had the ball. He constantly had his arms out and was jumping around to play defense.

 He had a lot of fun being on a team with his best friend Cohen. Cohen was such a star athlete and Carson loved to help cheer his team mate on.

 Carson had some awesome baskets and was able to earn some "monies" for his baskets. I think we have a basketball fanatic in the making!

LIfe for 4 year old Brynn

So I know I am about a month behind on this post, we had Brynn's 4 year well check up at the end of February.
So here is Brynn's life at 4... let's just say it's full of fun, lots of loudness, Princess's, and a crazy girl.
Brynn's favorite foods: Cheese would be at the very top of the list. She can consume a crazy amount of cheese and will eat just about any kind. Her favorite are the plastic Kraft singles, and spray cheese. (The two that are not healthy for you!), she also loves yogurt, any kind of doughnut, pretzels, and any kind of cookie. She also is a really good salad eater, and enjoys carrots and dip and edema me.
Favorite movies/ TV shows: She has been majorly into Peter pan, she asks to watch it every morning with Grandma. She also likes Team Umizoomi and Curious George.
Favorite thing to do: Play anything and everything with Grandma and Grandpa, especially games. Play Princess in her room, it's not playing unless every single princess and their clothes is dumped out in her room. Ride her scooter, she is so fast, but I do not love that she has worn through 4 pairs of shoes from scooter riding. Going to ballet, she loves her ballet class and going with her friend Saige. Go to the library, she loves to go get new books.

Brynn still has just as much spunk, probably more than she did a year ago. I wish I could just have an ounce of her energy to get me through the days. She loves to be going and doing and can be a little opinionated. But she is also incredibly lovable, she loves to give hugs and kisses. She loves to wear "beautiful" dresses and loves to make her hair "curly" for church. (So sad her natural curl is gone). She has a love hate relationship with Carson, they get along so well one minute and the next they are screaming at each other. She loves her little brother McKay, she is always so quick to tell me when he is stinky and to cheer him up. She LOVES living with Grandma and Grandpa, she wakes them up as early as she can so she can maximize all Grandparent time!

The Dr said she looked great and was very impressed with her muscle tone. He said she will be good at either sports or dance, which ever she chooses. My favorite part was when the Dr. asked her to walk to the door and then back. She of course walked on her "ballet" tippy toes. He asked if she did that when she normally walked, I told him no, but when someone was paying attention to her yes!

Weight: 37.7 lbs (71.83 percentile) Please take note, McKay is only 5 pounds behind her. Yes, I carry him everywhere we go!
Height:41.25 (81st percentile) She is so tall, everyone always says that. That is why she has been in size 5 clothes for a few months
BMI:15.58 (58th percentile)