Tuesday, May 12, 2015


A year ago TGen (who had done a gene mapping on Katie) told us they were pretty sure Katie had a certain gene mutation called GRIK2. This is rare and not related to any named disease. It has a lot to do with excitatory neurotransmitters, neurons not firing right etc.. and some stuff that doesn't relate to Katie like seizures, large brain, and mental retardation which maybe scientifically she does have a dose of, but I don't see her that way.  She knows a lot and is pretty darn smart.

 Also, lots of talk about synapses and neurons, etc... this totally makes sense to me because after all we have been through  - Mom's point of view here - I feel that there is just some connection in her brain that is not connecting. Period. That is it! Let's just connect it, dammit! If only it was that easy.

Well, TGen told us a year ago that they were pretty sure of this mutation but needed to confirm it, they weren't 100% sure.  I guess that the machine wasn't spitting out a clear yes or no that she has this mutation adn that if affects her, not sure of all of the specifics - it is science you know! I know it is a very tedious process with a researcher going over the results.  I  don't want to make light of how much effort goes into this gene mapping.  I know it is extremely time consuming and detailed work. So over the year they have tried probably ten times to get this confirmation, running the tests over and over, and still we have no confirmation.  TGen has been wonderful, I know they are doing whatever they can to help us.

So, bottom line is they can't confirm this diagnosis.

So disappointing to be on the cusp of an answer and  possible help - and now I feel we are back to square one. I know it will all work out somehow.  This kid has got to talk someday - I think she's tired of saying, "Mmmmm!" and would most likely be telling me, "Give me another cookie, Mommy!"


Sunday, May 3, 2015

Katie loving a tilt-a-whirl kid style!

It's been a crazy few weeks but I have a lot to say.  Will be posting sometime this week but had to share this video of Katie yesterday.

Fun times!!