Time Stood Still

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.