Mr. Will is not a typical little boy. Well, he is and he isn't. Let me explain...Will is typical in every way. He likes to play with toys, both inside and out. He loves to swim, or at least try! He plays well with his big brother and sister. He's a picky eater! He loves Toy Story (in any form)! He goes to preschool, in fact his first day back is this Thursday! He's a very lovable and happy little boy.
As far as the "non-typical"...Will has many developmental delays. His language is blooming more and more everyday, but it's still not up to the "normal" 4 year old vocabulary. His biggest hurdle though, is motor development, both fine and gross. Will can get around just fine, but it's in the form of an "army crawl" rather than walking or running. His balance is not good and he has ataxia which makes him "wobbly" (for lack of a better word). He isn't able to stand on his own, which means he isn't able to walk on his own either. He uses a gait trainer to help him walk. We named it Alfie! Everything needs a name after all! Will likes to walk without Alfie too. We help him by holding him up under his arms while he takes steps. He's getting better at this all the time! As far as fine motor, Will needs help drawing lines and circles. He also needs help holding scissors at school. He does ok eating with utensils but pushing buttons or turning dials are a bigger challenge.
We don't have all the answers to Will's delays, but we did get some news last summer that may have something to do with it. Will has a condition called Cerebral Folate Deficiency. This means that he doesn't have enough folic acid in his spinal fluid which makes his cerebellum shrink. Your cerebellum (lower part of your brain) is responsible for many areas of development. Motor coordination, balance and equilibrium are a few of these areas! Sound familiar? If Will's cerebellum is degenerating (or shrinking) it makes sense that he struggles with all of these things.
So...last summer after learning of this diagnosis. We started Will on a folate supplement. Every morning I crush a pill and stir it into his milk. The hope is that the supplement will meet his current folate requirements. It won't,however, replace the folate that he's already lost. Hopefully since he was 3 when he started taking the folate, we didn't miss out on that much "lost" time. Time will tell if it is doing it's job!
Oh, I guess I should mention Will's other "diagnosis". Since he was a baby he has had irregular eye movements. His eyes roll up. like he's looking at the sky. To try to compensate for this movement Will tilts his head down. He really did this a lot when he was really little. I will have to say it's subsided a bit with age. In January 2011 we flew to Michigan to meet with a neurologist who was familiar with something called Paroxysmal Tonic Upgaze. After meeting Will and giving him an exam, he agreed that Will fit the PTU diagnosis. The downfall to this diagnosis is there is not a diagnostic test that you can do to determine that it is a definite diagnosis. That really doesn't matter to us, but neurologist really like to be sure! The positive part of this diagnosis is that it is supposed to be a benign childhood disorder, which means Will should outgrow these "symptoms". His upgaze has already improved or lessened. He doesn't roll his eyes up nearly as much as he used to! Again, time will tell!
This is what Will looks like when he's tilting his head and his eyes are up, ignore the pj's and crazy hair! This is not as dramatic as it can be.
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