Tuesday we were up at Doernbecker's Children's hospital. This time not really for Michael but for Steven my youngest son 15. Steven has been dislocating his knees this last year fairly frequently. His PCP referred him to make sure was not a serious connective tissue genetic issue. All of his pre tests he passed so we knew pretty much that we were not faced with Marfan's Syndrome, though needed to confirmation. Michael's Physical Therapist, who was the first one to say "Have Michael tested for Myotonic Dystrophy." when everyone else was scratching their heads, said that she didn't think Steven had Marfan's but Ehlers-Danlos Syndrome mild form. I think we will just go to her for now on if we suspect a genetic issue. Yes, that is what Steven has. It is also what most members of cirque du soleil have. It is not uncommon and usually just ignored as double jointed and flexible. Steven has always been able to do things with his body that ...
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Hair cut and shoes and the twama face ;)
And yes he does wear clothes. He gets them super dirty, super quick though so usually takes a couple baths a day and doesn't want to put the clothes back on ;)
So we now have a diagnosis for Michael and a new journey begins. Michael was just diagnosed with Myotonic Dystrophy. His care has been transferred from Doernbeckers CH to Shriners hospital since they specialize in the Muscular Dystrophies. He has the congenital form of Myotonic Dystrophy, which means his Mother has the condition is well but adult form. My anger at her abandonment of him has lessened greatly after reading what symptoms she would present with. 2 of the biggest are apathy and depression. What does this mean for us? We know know why he has the hypotonia he has and why he does certain things or is delayed. He was already getting OT,PT and Speech therapy before the dx so we are a step ahead in all that. I had demanded it earlier when I realized his neuro deficit was hindering things. Our house looks like a mini obstacle gym. Now i will be ordering a sign language learning program because they usua...