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!
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!