Monday, February 20, 2017

Big Boy!

     Yeah! It has only been 2 months since I've been able to update the blog. A lot of things have happened in those 2 months. I ended up having bilateral carpal tunnel repair on December 30th. That was sooooo much fun. Do you sense the sarcasm??? I had to wear a brace for about 5 days after surgery so I wasn't able to do much on my own. Believe me, if you have to have bilateral carpal tunnel done, have it done 1 at a time. Here is what I looked like just afterward...

     I had to have both arms in slings for a while. This just got hot, so I went without for a while. After I took the braces off I was able to move and work pretty well. It has taken a while to recover. I am just recently able to do most of the things that I was doing before. I still have some strength issues though.  I'm sure everyone saw the picture of my new accessory that I posted on Facebook. I have a stress fracture on the top of my right foot so I am wearing a boot for 4 weeks to see if it gets better. Nothing like trading one extremity for another!
Christy's Boot

     Nick is still having some issues with his knee, but it's not getting worse. He was able to get another injection that was supposed to fix or at least help with the inflammation. He is still limping at times, but not near as much as he was before.

     Colton is doing so well!  Since my last update we met with Neurogenetics at Riley Children's Hospital. To our surprise (well not really), they do not think that he has lissencephaly. Due to his history, physical exam, and MRI. They thought he had a genetic disorder called myotonic muscular dystrophy (MMD). He fits the definition somewhat. Since he has come so far and doesn't really act like a typical liss kid, they thought this was more likely. So they drew some more blood. The first test was a CK. This tests for levels of creatine kinase. Your muscles need CK to to function. In myotonic muscular dystrophy these levels are usually very high. In typical Colton fashion, these levels were normal! At the same time they drew blood to send away to look for a specific gene called the LAMA-2 gene. This is the gene for MMD. If this gene was negative, the testing would flip over to a whole panel for different types of MD. It took about 8 weeks for these tests to come back.  Again, in typical Colton fashion these were negative! Yes, all of it was negative!

     So, while we thought we had answers 2 years ago with a diagnosis of Lissencephaly, we are back to the drawing board. There is still a possibility that he does have Liss and we just haven't found the gene for it. The more he progresses in life, the more we aren't sure thats what it is. The next step is to do a whole genome sequencing to check for other genes that we haven't though of to test yet. This test is very expensive, but we are very lucky to have it almost all paid for by insurance. We are planning on having this drawn in March when we go back to Riley for ventilator clinic. This test will take about 12 week to get back. If they don't find anything the first time, we can request to have it looked at again every couple of years as they are finding new genes all the time.

     In the meantime, we keep plugging on with therapies and new things. We recently added a developmental therapist to the mix. She is going to focus on communication and daily activities. She will overlap sometimes with his speech therapist. So for those that are keeping track Colton gets physical therapy once a week, occupational therapy once a week, speech therapy twice a month, and developmental therapy twice a month. His nurses also keep up on doing things with him when they are here as well. I can't begin to tell you have may words he can sign and the things he knows. He is starting to put signs together into sentences as well. One thing we are truly excited about is his head control. In the last two months or so he has begun to have more and more control of his head. This happened at therapy last week. He lifted his head off the ground by himself!

     We are in the process of trying to get Colton set up to go to school this fall. If you didn't know, First Steps ends when the kids turn 3 years old. I'm talking on their birthday. He then get to go to preschool. One of the things we are working on is getting him more mobile. This means that Colton is getting a wheelchair!  He was able to trial one last Monday and they were gracious enough to allow us to continue to trial this one in our home so that he can get used to it. If we figure out that he likes it and we can configure it to work for him then we will order one specifically for him. 

     Please ignore the yellow band. This demo did not have the harness in place for him so we were using it to make sure he didn't go anywhere. These pictures also do not sure the joystick he is going to be able to use to go. He really didn't want anything to do with it at his trial last Monday, but we think he will get there once he understands what it does. They are bringing the chair with all of its "fixings" on Friday. We can't wait to see what he does with it!

     We are so proud of what he's been able to accomplish in the last 2 years and can't wait to see what else he comes up with!

Wednesday, December 7, 2016

2 years old....

     So, I promised myself that it would not be a year before I posted again, but we are almost to that point. this past year has gone so fast and yet so slow at the same time. A lot of things have changed.

     I have a new job that I started in April. I have been officially working there for 8 months. I like my job, but I work a lot. Nick is still working at Parkview Noble as a paramedic and he loves it. Things have not gotten better for us on the health front either. Nick had surgery to repair the torn meniscus in his knee and his pain improved for about 3 months, but it is now back with a vengeance. He has been told it it arthritis, but it is not getting better. Remember that I got cortisone shots in my wrist? Well, those have worn off and I am probably going to need surgery to fix them. As far as the 21 day fix went, we did great for about 7 rounds. Nick lost 70 pounds and I lost 30 pounds. When Nick had surgery, he wasn't able to do the workouts and we ran out of time with meal planning and we both fell off the wagon. I have gained about 20 pounds back and Nick has regained some as well. We will eventually get back to were we want to be, but I'm sure it will take us a while.

     But you aren't here for us, you are here for Colton!  He turns 2 years old today. When he was born, we were told that 2 years old may be the end. So, as this birthday has approached, we have both been on pins and needles wondering what was going to happen. This past year has seen so much growth and improvement in Colton's abilities we have been amazed. Where to start?

     How about we start with his lungs. If you remember Colton got a new trach. This trach has an extension built in that allows him to move his head and neck easier. This is what we think has helped him move some much more. It has however caused some granulation tissue in his stoma (hole in his neck that the trach goes through). This has caused some irritation that Colton didn't like and overtime his trach moved he hurt. It was also starting to bleed some. The first part of November, he had surgery to remove the granulation tissue and it helped for a while, but has since come back. We've been able to decrease some of his ventilator settings as well. Our pulmonologist (lung doctor) is hoping to be able to trial Colton off of the Ventilator sometime next Spring. This is scary to us because he hasn't usually wanted to breathe very well on his own. In the meantime we are working toward being able to do that. Earlier this year, Colton had a routine Echo (picture of his heart) completed that showed some Pulmonary Hypertension (he basically has high blood pressure in his lungs that causes his heart to work harder to keep up). After that echo, we put Colton on Oxygen at night to keep his oxygen saturations increased. The oxygen is supposed to help lower the blood pressure. (There is much more to this, but this a simple explanation). We had a repeat echo and met with the pulmonary hypertension team at Riley. They were encouraged by his repeat echo and we have just continued to do the oxygen at night. We actually do not have to go back to see the team again. One thing that we got out of the visit with the pulmonary hypertension team was a referral to Riley genetics. We go see them on December 16th. We are hoping they will have a way to get the whole genome sequencing done so that maybe we can get some answers as to the cause of Colton's Lissencephaly.

     On the therapy front Colton has dramatically improved. He continues to amaze his physical, occupational, and speech therapists at every session. We have changed physical and speech therapists in the last year. Both of them have seen him rapidly improve. He now rolls from side to side and over onto his tummy and  back again. He gets frustrated when he can't move his head, but even that is improving. We have seen him attempt to move his head without using his hands. He has a stander now that he can tolerate for about an hour. He will sign that he wants to stand up. Speaking of signing, we as a family are starting to learn American Sign Language along with Colton. He can sign about 10 words now including read, book, yes, more, done, play, and up. We are working on Mom, dad, and thank you right now. He is learning so much every day. He loves to read books and watch his favorite shows. He is totally enamored with Gigglebellies, Jake and the Neverland Pirates, Octonauts, and Mickey Mouse Clubhouse. We think he likes the colors and the singing. We are working with speech to attempt to get him to swallow, but it's a long process.

     The surgery Colton had to remove granulation tissue also consisted of placement of ear tubes due to continuing ear infections. As most of you probably saw, he has another one and is on antibiotics again. We are going on Friday for an appointment with audiology for a hearing test. We know he can hear, so I am not too worried about it. During that surgery he also had the nodule on the left side of his neck removed. It was starting to interfere with his trach ties and was rubbing, so we figured since he was going under anesthesia we would get it removed. Dr. Reddy did a great job. He also looked at his lungs and said they look great as well.

     We have also seen Orthopedics at Riley a couple of times this year. Colton's scoliosis has gotten worse this year so we had a special brace made to help support his trunk as he moves. The picture to the right is of his new brace. We think it has gotten better with the brace and we continue to watch it. It makes him sit up so much taller. He has also gotten new AFOs (feet braces) in the last year, as he has outgrown those. Speaking of out growing things, we were able to get a new special tomato chair. Colton has outgrown the height requirements for his previous seat. He fits soon much better in this new seat. He loves sitting in it and watching his shows and playing on his iPad.

     We had family pictures taken the first week of November and Colton did a really good job.  I think our photographer may have been a little scared of him.

We had Colton's 2 year pictures taken on Saturday and I can't wait to see how they turned out. We tried to recreate some of the ones that we took for his 1st birthday as well as some new ones. Sunday we had Colton's birthday party. He had a great time. He opened each and everyone of his presents and promptly threw his new clothes at me and only wanted the toys in typical toddler fashion! Here are some pictures from his party. 

     I will try to continue to update the blog as I can. We have so much going on in our lives!