Well I just spoke with Carsons Neuromuscular specialist, we have an almost diagnosis. They are calling it Myotonic Muscular Myopathy because he is to young to "fit" in the Muscular Dystrophy type that his symptoms point to (they have never seen Myotonic Dystrophy type 2 in children his age...). She said she was sorry she could not provide us a diagnosis but that his genetics will be now given to a group who will comb over them and see if there are any genetic causes for his muscle disease. We will now see a cardiologist to make sure his heart is not affected, he should watch his diet and prevent illness and unnecessary weight gain as much as possible (they consider him a little over their preferred weight for a child with myopathy...). She says she wants us to join the Muscular Dystrophy Association and they can also provide us some assitance. Honestly this scares me more than having a definitive answer!! I feel like we are treading uncharted territory here, we dont have a specified diagnosis so we do not have a group of people who have been living with this and can give us some things to expect in the future. It could progress but how fast or in what muscle groups will it mostly affect, we have no idea. It is nice to have this, but now what?
Posted on: Thu, 29 Aug 2013 00:16:45 +0000
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