Finding Out the Cause of Emmie's Polymicrogyria

After we sent Emmie's MRI to The Walsh Lab at Boston Children's Hospital and they reviewed everything, they thought that from looking at her scan her Polymicrogyria was caused by the GPR56 gene mutation.
DR Walsh told us that they only knew of 25 cases of the GPR56 mutation in the world and that most of those cased are in the middle east. WHAT?!!? Strange.
They also shared with us that the other kids they knew of with the GPR56 had some different traights. Eyes going opposite ways and more severe disabilities that Emmie doesn't seem to have.
They let us know that if we wanted to confirm what the cause of the Polymicrogyria is, we would have to do genetic testing (me, Adam and Emmie).

Its been over a year now since our trip to Boston and we finally decided to do the testing. The meetings and testing are a little pricey since the lovely US insurance companies don't seem to cover anything you really need medically.

After going through the terrible process of giving blood (a kid with sensory issues giving blood is very traumatic) we shipped it off to Boston.

A few weeks later I got a call from the Walsh Lab. They informed us that Emmie did in fact have the GPR56 mutation which would have put her in the group with those 25 kids.
BUT........Emmie has a slight variation in the GPR56 mutation that none of the other kids have. SHE'S THE ONLY ONE! How is that even possible?
Adam and I both carry some crazy rare gene that when comes together give us a 1 in 4 chance of having a child with this genetic mutation.
How is this even possible?! We're not odds people! How did WE end up with such a rare thing?!
At first I felt LUCKY that Emmie was doing so well. Brenda at the Walsh Lab is such an angel and knows how to make me see the upside to things.
Then I felt GUILTY...it was Adam and I that gave this mutation to Emmie.
Then I felt SAD that we still don't know what Emmie's future will look like and just plain old feeling sorry for myself again.
Going through all this really is a roller coaster of emotion! Emotion seems to change from one week to the next. LOVE, PRIDE, HOPE, JOY, SADNESS, FRUSTRATION, LOVE.

The one feeling that I stick with is HOW LUCKY WE ARE to have such a sweet little girl who is beating the odds!!! She doesn't have the seizures that the other kids have, she IS WALKING, she IS TALKING, she IS GOING ON THE POTTY!!!!!!! Its really amazing.
Maybe she's doing so well because her strain of GPR56 is different than the others. Maybe she's doing so well because of her persistent stubborn will to try!

We try to stay positive. Adam and I both have our bad weeks BUT WE ALWAYS DRAG OURSELVES BACK TO POSITIVE!
With these crazy odds that we've been dealt I really DO BELIEVE that Emmie is meant to do something or bring something amazing to this world.
I dont know what it is about her but everyone she meets loves her. WE ARE SO LUCKY!