Thanks to facebook, Shawn is about to reconnect with his biological dad and his wife.We are all so excited for them to meet.
His dad is wanting to know about his disease so I am dedicating this posting to him.
Shawn has congential myotonic muscular dystrophy. Congenital meaning that his symptoms showed up at birth otherwise your symptoms can show up at pretty much any age and you don't even know you have this disease.
Dispite being born 4 weeks early, he just a have a few minor issuse that left him in ICU for 4 weeks before coming home.
So far he is pretty healthy.
He does suffer from chronic constipation which i have to make sure he takes Miralax everyday and I am also experimenting with prunes, aloe vera, daily enema cleansers ect.. but nothing seems to help much. He does have his good days and has bowel movement and someday we will struggle for a few days till I have to intervein with an enema.
He isn't potty trained yet. Don't know if he ever will be. It is just one of those things that we just have to wait and see.
He does have some weakness in his throat muscle so I have to be careful that he takes small bites of food. He asperates on liquids and will cough and cough cause the liquid goes into his lungs. This makes him high risk for asperation pnemonia which he did have just this past summer. We caught it really early so that was lucky,
His overall muscles are weak. He can't run or jump. He goes to phyical theraphy once a week
He is also developmentally behind and goes to occupational therapy once a week. He cant talk but knows about 20 sign language. His can understand everything I tell him and is smart is certain areas.
They say he has aspergers like you and andrea but the muscular dystrophy has the same symptoms as aspergers so that is really up in the air.
He doesn't know how to play but he loves his books. He isn't much for interacting with others but he is getting better at that. I would say about 30% of the day, he will want to interact us. I really have to push him to do things other then watch tv all. He loves going to preschool.
What does the future hold for him with MD?
He will comtinue to get stronger until his early teens then the symptoms of MD will start showing up and progressing.
The heart and lungs are the 2 biggest issues. With the heart, MD will attack the electrical system of the heart. When/ if the time comes, he could possibly need a pacemaker or difubulator. He does have his heart monitored once a year and so far everything is great.
With the lungs, the muscles will get weakened and when/if that happens then he will go on oxygen.
Pain will definately be an issue. I think this is the worst of the symptoms along with chronic fatique. He does get tired easy but loves to get up bright and early in the morning..6am.
He has sensory issues that are getting better. When noises bother him or if he gets over welmed, he will plug his ears and cry.
His lower leg muscles are twisting so in the future with this starts to interfer with his walking then he will have surgery. The will fracture the bone and put pins in then put him in walking casts so he will still be able to walk
His muscles will gradually get weaker and he also has some trouble with his hands locking up when he grips things like door knobs. It takes his hands a little longer to relax and open back up
Life expectancy? I hate thinking about this and just take one day at a time. this is really up in the air also...as it is different for everyone. 20's, 30's, 40's?
He is one happy toddler and is very good natured.
