I want to be Superman!

Michael doesn't know who Superman is, but he does want to fly.  Whether it is on a swing, in our arms or in the sky on a plane, he looks to be airborne.  He stops and watches as planes fly overhead and it is one of the first words he could say clearly.  He likes to be on his belly on the swing and have Steve lift him to the air.  
Unfortunately Michael is not Superman and it becomes painful when reality hits.  
Michael fell recently on a trip to the coast.  He was watching the spinning color flags and turned catching his brace on a stair.  He fell forward onto a stone step with his front top teeth.  They had to be removed. OUCH

Next stop Utah.  Micheal went to his annual CMD study in Salt Lake City in prep for the drug trial.  There are actually 3 drugs in the works  

First visit Speech therapy evaluation.  “Hi, what is your name?”  “His name is Michael, he doesn't say it.”  Michael, “Michael.”  Watch my jaw drop open.   Give him a book.  What is that?  He points and says the animals on EVERY PAGE!  He repeated words she asked him to repeat.  He said 2 full sentences without prompting, just in response to her.  One was ‘That’s not right” and I can’t remember what the other was.  He never stopped talking and most of it was clear. 

Next PT.  6 minute walk back and forth down a long hall around cones at ends.  He booked it.  Became wobbly and needed assistance when had to turn around cones and caught once during stretch but otherwise without any assistance.  Therapist said he did great.  Stairs a little bit more of a challenge but he got there.  Of course he wasn't cooperating with the grip and finger pushing strength because they were uninteresting things they handed him to test.  I told the PT, "You have to give him something he wants, in order to test his strength, not your ugly piece of machine.  Of course they didn't have anything like that. 

The DEXA scan he refused this year.  Too scary.

 Blood draw was traumatic because they couldn't get a vein.  They finally had a Peds expert come up and we will make sure they do that next time to start. 

Interview with MD Dr Johnson.  OK well here is where my world changed AGAIN! 

Me-So what is life expectancy?

Dr J- I have adults that are 40 with CMD. 

Me-What?  How come none of us have heard about them? 

Dr J- Because they are not the type to go to any conferences because they can’t and their parents are either deceased or no longer interested as they have been dealing with the disease for 40 years and the conferences and foundation have only been around recent yeqars.  As long as they get a defib and followed by cardiology, no reason to plan they will die early.

Me- So how about cognitive. These drugs (and there are actually 3 on the horizon!) won’t improve that correct.  I was told that at LEFT BLANK.

Dr J- that is incorrect!  No one should say that when we have no idea what they will do.  We have to find a way to get it across the blood brain barrier but after that, the brain is not much different of a muscle than the rest.  These kids are not cognitively delayed because of lack of neurons or matter.  They are delayed as messages not being received because of the same RNA repeats that cause the hypotonia and myotonia.  Once we ungum that part, we expect them to improve cognitively as well so you need to make sure they are kept on track.  Suddenly everything will be moving a lot faster for them. 

Neuropsych testing- he tested out at age appropriately.  We couldn’t sit in on this so we have no idea what tests she performed.  Last year it was similar to what you all did with the Spec Ed eval but I can’t be sure what they did this year as we were asked to allow them to take just Michael, which we did. 

So basically what we learned is we have a kid that if he could walk without needing 1:1 assistance when outside, and get those face muscles working better for speech (which he did speak pretty darn clear for them as everyone understood him) we may just be dealing with more typical issues of Special Ed learning delays that may improve in future. We are to keep doing exactly what we have been keeping Michael as caught up as able.  I think he is actually past where his father was at same age so doing pretty good.  See he IS Superman, just in a small body!  

We will continue to do whatever it takes to help science advance in a cure for this disease.  I said Guinea Pig and the doctor I think took offense.  He is NOT a guinea Pig, he is a participant in helping science advance.  I think that sounds like Superman as well.