Muddy Waters: February 2015

We received a phone call Monday, February 9 around 6:30 pm. We were just finishing up eating. We had known the Dr's office had the test results. I had only called a few times pushing for them to call us. So when we were all sitting at the table and my phone rang as it sat on the island in the kitchen, Jon and I looked at each other and we both knew. We both knew it was the Dr with potentially life changing news. I have never before experience a period of existence where time literally stood still.

During that phone call, we learned that they did find a mutated gene on Corbin's last genetic test. It is the dysferlin gene (DYSF). This gene is responsible for providing instructions on how to make a protein called dysferlin. This protein is found in the thin membrane called the sarcolemma that surrounds muscle fibers.

The initial results indicate the for sure 1 copy of Corbin's DYSF is mutated, but because the gene is so large the genetic panel they ran makes it difficult to rule out that the second copy isn't mutated as well. If both copies are mutated, this would cause a muscle disease. Corbin's Dr. feels that if this mutated gene were to explain Corbin's difficulties, then it is most likely that both copies are mutated. What this means is that both Jon and I are carriers.

In order to get more of these questions answered, there will be more testing. Our Dr. has contacted the pathologist (which he assures me is one of the best in the country if not the world) as well as the others in the neuromuscular team at Iowa City to brain storm the best options at this point. A muscle biopsy would give us many of the answers we are seeking, but its obviously an invasive surgery. They are checking to see if we have any other options at this point.

Obviously we have known something wasn't quite right, but that didn't make hearing this any easier. I know they say God only gives you what you can handle. God gives his strongest warriors the toughest battles. Easy to say, hard to comprehend. I am trying hard to keep the faith. Its hard. Many have asked how I can stay composed. Here is the answer. I don't. I can go through the motions of my day and pretend like nothing has changed. I look at Corbin and see the same son I saw a week ago. Give me a few minutes alone with my thoughts, and I lose it. We have pushed hard to receive a diagnosis, and now that it seems within reach I am scared to death. Keep praying for our little guy. He has a tough road ahead, but I know he is going to accomplish great things.

February came in with a bang. I mean a big snow storm! The biggest snow storm we have had in awhile that "forces" us to remain inside. For me it is almost a blessing. It forces me to accomplish a few things I put off.

Anyways, the first thing I want to get off my chest is it has been 66 days since the company received Corbin's last genetic test. After insurance rejected the $22k claim (yes $22,000. not a typo), I called the genetic company for assistance on getting this expense covered. I had been told this test had an 8 week turn around. They corrected me and said it was actually more like 10-12. Therefore we still have 4-18 days before we hear anything. Not that I am counting or anything. Part of me (even though I still wish we had a diagnosis) just wants the testing to be over. Every time we see good things or progress being made, I am still heavily weighed down by the burden of the unknown. I want it to be simple. We will keep loving him and helping him grown into an amazing young man. We will love Corbin for who is. Corbin. I feel like the diagnosis is the elephant in the room no one wants to mention. The good news is the genetic company assured me no matter what the outcome of the insurance appeal we won't pay a penny! (UPDATE: Since I typed this blog and then saved as a draft for awhile it has now been 70 days. I found out the test is ready, but we are still waiting on the Dr to call us back with the results)

Alright now that I have that out of the way. It has been 50+ days since Jon had his last bit of nicotine. We are so proud of him for this accomplishment. In the 4 1/2 years that I have known him this is a feat that he hasn't come close to accomplishing. I want him by my side for lots of years to come so reducing the chance of cancer is huge! I keep telling him I don't have enough time to take Corbin to therapy and him to chemo. Maybe my nagging/suggesting (I think of it more as suggesting) finally paid off. However, he wanted to quit as well which sealed the deal. Also thank you Troy for introducing Jon to Grinds. They are flavored coffee pouches that he can use in place of a dip that are completely nicotine free but contain a kick of caffeine!

What is going on in our life? Jon is deeply engrossed in the basement project. I am just anxious so we can finally start USING our whole house. A place for everyone to go to just hang out. As well as a guest bedroom so we can have guests?! What a concept! The kids' toy room is a big deal for me. I am ready for a place for all these toys to go! Jon is ready for his man cave, and I am ready for a desk so when I work from home on Fridays I am not sprawled all over the dining room table. Hopefully in the next couple weeks all the drywall is done so we can see what it is looking like. For now, I have a picture of the stair well Jon and his Dad did over the weekend.Our first walls are up!

Corbinator is doing some big things. Last time we had therapy at the hospital they used tape to help Corbin "activate" some of the muscles he needed to use to get on all fours. A task he hadn't be able to do. Believe it or not that same night we got home and he was up on all fours and hasn't stopped! We are soo proud of him. At first it took a lot of work. Now it is getting easier. Those hips maybe are finally starting to loosen up a little so he can do the work he needs to do!

Hallie is doing very well. She is learning how to read in school and is focusing on her sight words. She is learning how to spell them as well. We bought a journal for her to practice writing sentences, and like a good student she is quickly filling them up. She is such a good sister to Corbin, and I am very thankful for that. However, some days her teenage attitude is a little too much for this Momma to handle!

Another new thing in our house that hopefully will make my life easier is a new stroller! Ha. Its the simple things. Previously we had the bulky stroller that took up the back of the Durango. I bought this 11 lb stroller to help with Corbin. Some places we go (Dr. offices being the main one) are simply too much for me to lug this 23 lb child around. Now when we go to Maurices shopping we will fit through the racks and not have to break my arms doing so! :) Hopefully this will help me have at least one free hand. Corbin approves.

Our babysitter told us how much Corbin has started to move the walker. We don't put him in it much so he has the freedom to move wherever and work on his core muscles. But sometimes, it is nice to have a new view. I had actually contemplated selling ours. Jon put Corbin in it this weekend, and I was shocked to see how much he could actually move it. How could I have doubted Diane? :) We won't be selling the walker, and may have to start giving him a few minutes of free time to explore his world in the walker! (And how adorable is it that he is leaning trying to find Daddy around the corner!!!)