An almost diagnosis...

I often think of sitting down and blogging or writing what is happening in our lives, what our struggles and triumphs are. I finds, however, that as frequently as it crosses my mind in the end, it does not happen. I try to blame time or even the long waits betwen tests but I find lately that I have been struggling to put words to this experience, Im not really sure what to say because in all honesty Im not even sure what I feel anymore.

Well lets just start with the facts, since the EMG which told us about the Myotonia we have done genetics testing for what is called Myotonic Dystrophy type 1. After a month long wait we found that the test was NEGATIVE! It was a great victory, but momentary as that is how they feel lately, almost fleeting. After that we were told he needed to have a muscle biopsy done. They would put him under anethesia and take some small muscle samples from his calf. This would be sent to a pathologist who would look at the muscle and hopefully give us some answers. After another month of waiting we got the surgery done and then after 2 weeks the results were posted on his chart, yes in case you were wondering I did log into my health every single day from about 3 days after the surgery. The official results read..Moderate Type 1 Fiber Predominance. With this the googling started, yes I google every test result every time for days on end so that when the doc does call I am already understanding and ready with my questions, fact is when you get these docs on the phone you had better ask everything because they are super hard to get on the phone! Basically this result mean that of the two fibers that make up muscle he has WAY to much of one type. Type 1 fibers are the slow fibers, they hold up your body and keep you steady. Type 2 fibers are the fast twitch fibers, they help you run ect... Carson has alot of the slow moving fibers. After finding the results online (and the googling) I called and left the doc a message to call us. It took another 2 weeks for her to call. These months and weeks between tests and results and more tests are EXCRUTIATING! They give you just enough information to scare the living poop out of you and then tell you to wait a month or longer for the results, it feels like being in a state of constant anxiety, constantly being on edge waiting for the call. During this last month while waiting for the results of the biopsy I have hung up on family, friends, and even work because the call on the other line came from the Dr office or Hospital. It gets to the point that you can hardly focus on life because you have this huge boulder dangling over you and at any moment it will either be pushed away or it will fall. It becomes all consuming. ANYWAY, we finally heard from the neuromuscular Dr. yesterday.

So here is basically how the conversation went. We discussed the results of the biopsy and then she went into the diagnostic meaning of this. Combine his EMG results, with his history, muscle biopsy, and you should be getting the diagnosis of Myotonic Dystrophy type 1, however, his genetics did not show this. SO we look at Myotonic Dystrophy type 2, also called proximal myotonic myopathy. However, this disease has never been documented in a child this young, ever... So we are going to give Carson a diagnosis of Myotonic Myopathy, which literally means muscle disease with myotonia.....She said she was sorry she could not give us a more difinitive diagnosis. She wants us to make an appointment with her at the neuromuscular clinic, go to the cardiologist because the heart is also a muscle, watch his weight and make sure he does not get sick, join the muscular dystrophy association, and join this study of undiagnosed muscle diseases and they map all of their genetics in a hope to find a genetic link. SO, basically she believes he has Myotonic Muscular Dystrophy type 2 but its never been seen in his age so we are taking this other diagnosis...

It is hard to explain the feeling when they say that they honestly dont know what is going on, they dont know what his future holds, will this progress, how fast, what should we watch for...we dont have a path that has been tread by those before us with this disease, we are on our own. Its a very scary and overwhelming feeling.

So lately I have had a rush of emotion and alot of confusion. I am not really sure where to go or what to do, I feel fear of the future. To the point that buying him a bike made me wonder if he will ever ride without training wheels or will we have to buy him a trike when he is older, will he always be able to walk, run, take care of himself. They want us to keep his weight very low because it gives his muscle less work to carry his body and move his body. I stres about the now and the future. What about having more children, will this affect other children. So although this is his "diagnosis" its really not given us any relief or answers. It is a watch wait and see game. And so we continue to wait.