Wednesday, August 30, 2017

Catchup

I so feel like I'm failing this whole blogging thing. It's been 6 months since I posted and a whole lot has changed in our lives. Let's start with Colton!

Colton in his Vest Therapy
     Colton is growing up so fast. He will be 3 in December. He has gained so many new skills in the last 6 months. I mentioned last time about having the whole genome sequencing done to see if we could find a genetic cause for Colton's Lissencephaly. We had that drawn the end of March and it did indeed take a long while for the results to come back. We found out that Colton has 2 variants on the RYR1 gene. What does this mean? Well, this is the gene that is associated with Central Core Disease. Check out this link for more information. https://ghr.nlm.nih.gov/condition/central-core-disease#synonyms Basically this disorder affects muscles used for movement. The muscles are unable to transport calcium which prevents the muscles from contracting well. The problem with this diagnosis is that it does not account for the changes that were seen on his MRI of his brain when he was a month old. So Colton got another MRI done the end of June. Guess what?? They did not see any sign of Lissencephaly. He does have some decreased white matter that can be seen in kids with developmental delays, which he has. This diagnosis fits him so much better then the Lissencephaly diagnosis did. What does this change on the therapy front???

Colton at the Zoo
     Absolutely nothing! Colton has continued to receive physical therapy, occupational therapy, speech therapy and developmental therapy.  He is signing so many words now that mommy and daddy can't keep up. He is working on hold up his own head and does so for short periods of time. We are looking into other ways for him to communicate with us and make it easier for him. We think he gets frustrated sometimes since we don't know what he is saying. He is also working on moving his head without the use of his hands. He loves to be up off the floor in his stander or wheelchair. We still have the loaner wheelchair but the paperwork as been turned in for his very own chair! We are hoping to get it before he starts developmental preschool in December. AHHH!! Colton's going to school!!! I still can't believe he's starting school already. Luckily for him he will be in the afternoon class so he won't have to wake up very early. He still sleeps from about 10:30pm to 11:30am with no nap. He is so happy and has so much fun playing and "talking" to everyone.

Colton and Mommy
     Here's the update on the rest of us :). Nick is still working for Parkview Noble EMS and loves it. His knee is still bothering him and he will probably have to have surgery in the near future to put cadaver cartilage in the knee. We are hoping that this will fix his pain that he continues to have. I have been feeling much better since the last blog post. I was pretty much sick in some way or another from December 30th to the end of May/beginning of June. I haven't been sick since then (I'm finding some wood to knock on as I write this). I have started going to Integrative Medicine to hopefully help me feel better on a regular basis. I've found out a lot of things since going to them and things are going to start to get better. I am on a lot of supplements to try to get rid of some inflammation. I'm also working on some diet changes including quitting dairy :(. I'm gonna miss my cheese, but in the long run if I feel better it's worth it!

Probably the biggest change around here is that we started a home based business. We are now selling LuLaRoe! We started the end of May and are enjoying it so much!  I love seeing women feel good about themselves in some seriously comfortable clothing. If you haven't heard about LuLaRoe, let me know and we'll get you hooked up!  For those that do know about LuLaRoe, feel free to join our VIP
group on Facebook. It's LuLaRoe Christy Griggs VIP group! Here's the Link to join! https://www.facebook.com/groups/1843709425896197/#  Another big thing around here is that I no longer have a day job. I'm sure that most people know this, but thought I would put it out there. In the middle of July, I was let go from my job at Dr. Smith's office. I attempted to negotiate some of the hours that I was working and he didn't want to let me cut back at all, instead he fired me. So, I'm currently following my dream of being a stay at home mom to Colton and working our LuLaRoe business. It wasn't the greatest timing, but when is it ever?


xoxo,  Christy

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!