Lab Results...

We have received the results from Zach's genetic testing.  It is not what we expected and we are still sorting it all out in our heads.  Zach was having two genetic tests done.  The CASR gene and the AIRE gene.  We were hoping for one or the other.  We just want an answer to this 9 year question as to what gives Zach so many health issues. We did not get that answer. 
What they can tell us is that Zach is "heterozygous for a C>T nucleoitde substitution in exon 7 of the CASR gene". (really helpful  LOL).  Zach has what is called a "Missense Change" (A784V) and this variant has not been reported on.  In other words, Zach has a NEW change in a gene that has never been seen or reported on......ever...in the known world.
So now what?  Well, first they need to do a clinical evaluation on Perry and I.  So we will be sending our blood to this same lab for them to test.  This needs to be done to assess the biological significance of this "missence Change". 
As we get more information we will post it on the blog.

It is hard to say how we feel.  We seem to always be hanging on "the next test" or "the next appointment".  I tend to get my hopes up and think, ok they will figure it out... and then they don't.  I used to wish that Zach at least had something "common" so I could find another mom  with a child with the same disorder.  Someone who would know exactly what its like to have a child like Zach.  I know that God gave us Zach so that I would learn this lesson.  That there is only one who knows everything. Only one who fully understands. Only one where I can safely place my hope, my faith and trust.....Jesus.  He alone knows what Zach has and what he needs.  He is Sovereign over everything.  I am reminded of this again and again. 

Psalm 139:14

"I will give thanks to You,

for I am fearfully and wonderfully made;

Wonderful are Your works, And my soul knows it very well".