Let's catch up...

Finally I am feeling motivated to write.  I can't even tell you the number of times I have stared at the blank page before me, wanting to write but just not having the drive to do so.  I am going to blame my lack of motivation on the wonderful summer we spent.  If I had a spare moment, I was outside.  It was wonderful!  It didn't take long to feel settled into our new house, so the minute the unpacking was complete, I took to the outdoors.  Our days were filled with swimming pools, trips to the river, walks around the neighborhood, a hike here and there, ice cream outings to Big Dipper (Yellow Cake is by far their best flavor), bon fires and smores, shooting hoops in our driveway... you get my point.  So, by the time the sun set behind the mountains I was exhausted!  The last thing I wanted to do was sit down and write.  This summer was all play!  This was also the first summer that I didn't have to work.  Wait, let me rephrase that. This was the first summer that I wasn't stuck indoors working a mundane 8-5 job.  However, I still had my work cut out for me.  Both kids kept me busy all hours of the day.  Samantha no longer takes naps, so there went my "me time", and the older William gets the busier he is.  All in all it was a busy busy summer, but I wouldn't trade it in for the world.

I mentioned before that it didn't take long to get settled into our new house.  Of course it took a while to get everything unpacked and pictures hung on the wall, but from the moment we moved in, the house felt like home.  I was worried that I would miss our old house, but I can honestly say I don't miss it at all.  Even the extra drive doesn't bother me (we'll see how I feel about the drive in the winter.)  Okay, I do miss our old trex deck.  I am not looking forward to staining our front and back deck next spring.  But other than that, the house is perfect for us, and more importantly its a perfect fit for the kids.  

Not only was the house a huge blessing, but William is showing lots of improvements and just in the last few weeks he has shown so much progress.  I LOVE it!  We did meet with a Genetic Specialist from Shodair, and I walked away from that appointment feeling a lot of peace, which is something new for me.  We didn't necessarily get any answers, at least not the kind that would explain his hypotonia, but the Specialist feels his hypotonia is benign.  Our plan of action is to continue to monitor William's physical development and in 9 months from now meet with him again, and at that stage determine whether to do a muscle biopsy.  I wish I was better at explaining all this, put during the course of our visit I felt like one of the characters from the Peanuts when they are listening to a teacher or adult.  A lot of it went over my head.  Here's just a glimpse of what we heard;

Neurological:  Severe hypotonia of the trunk with relatively good head control.  No spasticity is evident.  The knee jerks and symmetric and there is no ankle clonus.

Summary:  William does exhibit significant hypotonia...He most likely will turn out to have benign congenital hypotonia (good news) which usually normalizes by the age of 2 or 3 years.  Some cases of benign congenital hypotonia are caused by autosomal recessive cytochrome oxidase deficiency (talk about a long name) which would require a muscle biopsy for confirmations

Given the decreased muscle mass, I would be more concerned about a congenital myopathy with abnormal muscle structure rather than a mitochondrial or metabolic myopathy....

If you are like me, by the time you finished reading, all you could think was "wtf" (I hate using that abbreviation, but it fits).  Anyway, you get my point.  There is no way I could put all of that in my own words.  This stuff is crazy!  Funny thing is, spell check doesn't recognize any of these words.  They all show up as misspelled!  But, in all seriousness, we do feel very good about the progress William is making, and we feel comfortable ruling out any cognitive delays.  Although, he's still so young to determine that for sure.  He is a happy boy and LOVES following his big sister around.  In the last few months these two are proving to be good buddies.  They will sit down and hand each other toys.  They feed off of each other's laughter.  If one starts to laugh the other is quick to follow.  It is such a joy to watch these two interact with each other and you can really see how much they love one another.  And that alone puts a smile on my face.  

E