Saturday, October 06, 2012

Finding Strength

In a few weeks our family is set to head to the NIH for their undiagnosed diseases program. We are hoping they can shed some light on what exactly is causing Mason's syndrome biologically, why it presents so differently in the 3 of us (me, Micah, Mason), whether the deletion is actually the main problem in Mason or if he has another condition that is known but just hasn't been tested for, if there are any treatments that may benefit him, and how likely this scenario is to happen again.

What's ironic in all of this is while Mason is doing much better (seeming stronger, eating more by mouth, seizure free since June), his big brother is beginning to concern us more.

Having fun at "the big gym" (PT/OT)
Micah's PT re evaluated him and said he is actually quite a bit lower on his gross motor skills score this year than last year. He stands up with "Gower's Sign" from lying down (this is an unusual way of getting up that kids w/ muscular dystrophy and other muscle diseases use, who have "proximal weakness" of the hips, trunk, etc) He cant sit up for more than 45 seconds without leaning over to hold himself up, or lying down. His sensory issues and hyperactivity have really escalated this year. It's hard to lift his arms very high, or to climb stairs without running (the PT said she thinks his hyperactivity is actually due to him having such a hard time physically sitting or standing still, due to weakness of his trunk). He also has kind of a sway in his back now. He's on cold #4 since school started mid August (this one he kindly shared with all of us to enjoy lol).

So clearly we do have some questions about all this. Why does Micah have these muscle issues? We know he shares the deletion w/ Mason and I. But we have been told Mason's muscle problems are due to his brain malformation. Does Micah have the same problem but milder? Or does he have another cause for it? (IE, is it related to his frequent infections? Does he have an autoimmune condition?  A nerve problem (he goes numb a lot, shaking his hands when they are "tired")? Does he have a myopathy or some other explanation for his weakness and tone? Is it due to his thyroid problem? (We know that can cause muscle disease if not well controlled, but it's rare in kids, and usually affects just the limbs not the trunk so much, and Micah's thyroid levels have supposedly normalized now). Is it treatable and will it get better, stay the same or get worse? How does it relate to Mason? Does Mason have another issue with his muscles besides his brain malformation? God knows. I don't know if NIH will or not but we're thankful for the open door to find out what they are able to tell us. Pray we'll have strength do endure that week of testing (they warn us it will be exhausting and difficult) and whatever new information we obtain from the trip.

"...'my power is made perfect in weakness.' Therefore I will boast all the more gladly about my weaknesses, so that Christ's power may rest on me." 2 Cor. 12:9

"Strength for today, and bright hope for tomorrow...blessings all mine, and ten thousand beside..."

Mason's Mix

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