Wednesday, December 19, 2012

Neuro update

I hate when I ask a question, get the answer, then find myself with more questions....

So we are 6 weeks out from sending Cadence's chromosomes off to see if they can find the Sotos gene mutation.  Because I have zero patience I've already called and they have not heard anything back and probably won't until after the holidays.  

We are also about that far out from our last visit to neurology.  Because we are now looking at Sotos, and there can be brain abnormalities and seizures associated with that, I wanted to know if we should have another MRI or if we could have his earlier MRI (done about 2 1/2 years ago) re-read to look for this.  I went in wanting to have another one, just to be sure.  But his neurology nurse practitioner reminded me that he has to be sedated to do that, so it's not a test we just want to jump into.  Not to mention it ain't cheap! So she said she would check with neuro-radiology to see they could just re-read it in light of this.

As always, I had to call them to get my answer.  I was pretty surprised when the nurse called back to say that his MRI  was originally read as normal, but now that they've re-looked at it, they do see several of the associated abnormalities.  I haven't been able to get a lot of information on these "abnormalities", but they did say that it was all subtle.  She said they are now waiting to hear if they can just "amend" his original MRI to reflect these new findings, or if they'll have to do another to have it documented.

Now I want an MRI more than ever.  

I'll wait until after the holidays and until after we hear about genetics, but I have so many more questions now.  I want to know what this means for his seizures.  I want to know if there have been any changes in the last 2.5 years.  I kinda want to know why what was normal then is abnormal now.  But, we've been waiting this long, what's another couple of months.....

Saturday, December 15, 2012


Yesterday started off such a sweet day.  Glenn, Connor and I attended Cadence's Christmas concert at school in the morning.  It was an event he had been so excited for and it did not disappoint.  How can you resist sixty 4 & 5 year olds belting out Christmas songs?  As expected, Cadence did not participate in the singing (he said he was too tired) but he was happy to be there and I so loved it.  

After the concert I left the boys at home and went to work.  My heart filled with love for my family and the joy of the season.  That joy was soon shattered, along with the rest of the world's, when I heard of the senseless tragedy in Connecticut.  So incomprehensible and all I could think about was all the sweet little faces I had just seen and getting home to my own babies.

We spent the evening with extra cuddles and family time, and then, as always seems to happen, Cadence reminded me that hope is always right there, even in tragedy.  For the first time ever, Cadence "read" me a story.  He has always loved books, and we can read the same one a million times without him getting bored, but he's not one to use a lot of imaginative play.  He likes to see how things work - but he doesn't really create things or come up with crazy stories or play.  And he's always been a quiet kid.  Obviously his speech  has been a huge part of that, but I think it's also just who he is.  He's okay in the quiet moments and doesn't fill the air with idle chatter.

But last night after we read his story, he decided he would read to me.  My heart filled while listening to him tell me his story and I was extra aware how precious this "first" was.  We went a very long time with little to no back and forth communication.  I remember how huge it was when he could finally communicate yes and no with us.  I could finally ask questions and he could lead me in the right direction.  And there was a lot of time when I just didn't know how well he would be able to communicate with the rest of the world.  But just when I needed it most, my boy brought me right back where I needed to be.  Not focused on the evil in the world and all that I cannot understand or control, but right in the wonder and joy of my own kids.  Enjoying his story and present in the moment with him.  Soaking up every word of it.