Updates Galore!

Hello!!  Our little cowboy was on break this week but we ended our first session of Equine Therapy on a great note!  Luke even got to go on a trail ride with his horse, Sparky!  We never really achieved riding independence (riding without mom...) but hey, he's TWO!  It's OK to still want your mom with you while you're riding a great, big horse!!! 

I'll try to keep this update concise but I have lots....I'll start with GPR56.  This was a genetic test that we have wanted to do since Luke was born.  We've been trying to figure out for the last two years if insurance was going to cover it.  Thanks to the persistence of a sweet lady from our genetics office we finally had it done.  From what I understand a mutation in this gene is a known cause of Luke's particular type of PMG.  Also if he was found to have this gene mutated, then it would have shown that Dan and I were random carriers.  Well, his is fine.  So of course, I think that means that we are not carriers. Not necessarily.  We're pretty much exactly where we were from the very beginning.  Apparently as Linda from the genetics office explained, we all have a whole bunch of meaningful genes and since no one really knows what caused his PMG we still could be random carriers.  Or not.  She thinks there is going to be a more generalized test available within the next year or so that could give us a more concrete answer. 

Now you might wonder why it's so important to me that we find out.  Would it really change anything that we're doing?  No.  At this point it doesn't really matter.  But at the same time it does.  If we're random carriers, the boys could be random carriers.  And I'm going to be forever curious if there was something I did that could have caused this or something I didn't do that could have prevented it.  I don't have some persistent, unhealthy guilt but nagging questions in my mind.  Honestly, I've come to realize as I've talked with more and more PMG families, it is likely we'll never know.  But I'm still holding onto hope.

Moving on!  Speech!  Awhile ago, I read a post on a support group that talked about how her child had apraxia of speech.  I learn a lot - A LOT - from these groups.  So I looked it up. As I was reading it, I realized that it sounded a lot like Luke.  Some of the indicators include the child's receptive language is significantly ahead of their expressive language, the child will have a word and then 'lose' it, the child will often 'grope' for a known word, the child is typically quiet - not much of a babbler.  I mentioned it to our speech therapist and after working with him for a little while she agreed.  She came to me with a book called Becoming Verbal with Childhood Apraxia.  As I read it I realized just how much it fit Luke.  Christine started treating him for apraxia and HOLY COW!!  The kid has taken off!!  It's amazing.  He is becoming much more understandable, imitating everyone and everything, talking up a storm and really starting to communicate.  She tested him and found that his receptive language is slightly above his age level and his spoken language is a few months below.  His articulation test showed how he has many spoken errors.  Between his articulation test, the split between his receptive and spoken language and the positive response we have gotten from being treated specifically for apraxia, he has a tentative apraxia diagnosis at this time.  He also tends to vary his tone of voice and put emphasis on the wrong syllables.  This video was shot a few weeks ago.  It shows the amazing progress he's made as well as how very smart he is!! Whoohoo!! 

As usual, Luke is working his tail off.  He is well within his terrible twos and not only tells us no often, he now kicks at us with a lovely 'HI-YAH!'  (Thanks to Amy, our PT, since that's how she gets him to try to kick!!)  I try not to, but can't help but to laugh at his energy and spunk.  He is starting to be able to really communicate to get his needs met.  He is able to say 'Help, please' pretty clearly.  Today, for the first time, he asked for a specific food that he wanted - not one that was being offered (peanut butter and jelly - soooo my child!).  I usually give him choices that are in front of him that he can pick but today he didn't like my choices and picked his own and I understood what he was saying!  It was a really huge moment!

Our OT has been working a lot of different sensory issues.  Luke remains kind of mystery to her because with some sensory things like ooey, gooey things he becomes very agitated and gets really upset.  He doesn't like squishy balls and things that feel funny.  But then they made cookies and he was fine getting his hands into the gooey cookie batter.  So he continues to stump her...but I have some really great pictures from some activities recently.  Unfortunately, I can't always take pictures because I'm a mess, too, but I managed to get some of the cookie making and shaving cream play (he wasn't a fan of the shaving cream!).

Last weekend we had the opportunity to meet several other families from St. Louis whose children are affected by PMG. It was really nice connecting with them and meeting their children. There were five families all together with children ranging from 1-5 years old. All five families have two children.  It was a busy meeting but so fun!  I'm excited to get to know all of them better and use each other for support.  Here are some pictures from our meeting.

William and his mom, Wendy

Gage

Lucas and his mom, Esther



Esther entertaining Luke and her daughter, Eliana, with 'We Are the Dinosaurs'. 

Willow letting me hold her!  Yay for big victories!! 
We're going to be friends, Willow!!

Finally (for now, I'm sure you've all heard enough!!) we leave Saturday for our appointment with Dr. Dobyns.  I'm excited to meet him and see if he has any new information to help us with Luke.  I'm glad he'll be able to see and handle Luke so he can give us his opinion about Luke's development based on HIM and not an MRI image.  Fingers crossed for a safe trip and that Luke tolerates the plane.  I'll update when we get back.

Through the last two years with Luke I'm constantly reminded of how lucky we are and what a blessed and beautiful life we have with both of our boys - even with all of it's insanity.  We are forever thankful for our friends and our family who make this journey such a sweet ride.  All of our love!