Jack, a 10-year old from Pelham, loves music and he’s learning to play piano and flute. He is also an Irish step dancer who wants to be a author / illustrator. Jack has 2 dogs, 3 ducks and a flock of chickens to keep him busy when he’s not in school where his favorite class is Reading.
Jack has participated in the MDA Muscle Walk every year in lieu of having a birthday party.
This information is from Jack’s mom –
Jack Has Congenital Fiber Type Disproportion. It basically means his muscles are built differently, and due to that, he has no reflexes and has to control a lot of his movement with intention. (For example, he has to think about holding his head up. When he is listening to a story or watching a movie and forgets, his head falls back.)
It has meant that we’ve had to create a lot of neural pathways with him manually. He’s been in PT since birth, working to build reflexive behaviors (like suck/swallow, putting his hands out when he falls, and shifting his weight to maintain balance) and he does an outstanding job.
We discovered this at his early arrival (35 weeks)- it was very apparent that something was wrong. He was essentially a rag doll. He could barely move. It was a month in the hospital followed by 2.5 years of medical testing and guessing before we went in for a muscle biopsy. It was what revealed his diagnosis.
It effects his day to day life a lot- he can only manage so much physical activity at a time.
-If he’s walking, and someone starts talking to him, his pace drops because he can’t focus on his body’s speed and the conversation.
-Stairs are really difficult because it’s such a full body effort, so he is always placed in a 1st floor classroom.
-He gets tired very easily, so when we know there will be a lot of walking or standing, we bring a wheelchair.
-He rides an adaptive bike so he doesn’t need to worry about balancing.
-He cannot use regular anesthesia, as he would go hyperthermic.
…Sports are kind of a non-starter.
As far as his future, this is something he will die with, not of. He will need to continue with PT and remain active to keep his muscles working as well as they can. We need to monitor him every time he grows to make sure his muscles and tendons can keep up with his growth, watching for scoliosis, heel cord issues, etc. He’s also at risk for sleep apnea and other nighttime related issues since his reflexive system is… sub-par. Oh- and he has the metabolism of a shark, since he has to work so hard for everything. When he gets going, we refer to him as “Nom-Nom”.
All told, however, Jack is perfect.