Our Trip To Boston

Finally it was here after months of going crazy with different outcomes in our head. Of course Emmie came down with strep throat and we had to push the flight a day but we made it! Monday was our appointment day and the coldest day on record in 6 years for Boston. My husband and I were in a twilight zone that morning....finally the day we were waiting for was here. Are we going to get bad news?
You want to try to be positive but we realized that if we prepared for the worst but hoped for the best it would be easier for us to cope if there was bad news.
When we walked in the doors at the Boston Children's Hospital we were amazed....it was like a small city. Lots for the kids to play with...and a HUGE fish tank.
We made our way up to the genetics department and only waited for a few minutes.
We met with 4 of the Dr's in the Walsh Labs Brain Development and Genetics Clinic and were AMAZED at how detailed they were. They explained everything to us and helped us understand.
They were also amazed by our little Emmie. Apparently from her MRI she really shouldn't be walking. BUT SHE IS!! GO EMMIE!
Her determination and our persistence is paying off!

Our questions were finally being answered:
-They said that she would most likely get the seizures in time but they can be controlled with medication.
-She didn't need the shunt put in.
-After seeing her they were delighted to see she was doing so well and said she should be able to function in a regular school with a little extra help.
-It was nothing I did while I was pregnant that would have caused this.
-They didn't think there was a hemorrhage...they thought it was part of the Polymicrogyria.
-We should continue with Emmie's therapy as whatever we're doing is working.

They had also mentioned again that they thought Emmie had a gene malformation called the GPR56 gene which sometimes goes along with Polymicrogyria. They advised that we have genetic testing done to confirm.
When Brenda had mentioned this on our results phone call in December I had gone through the painful process of trying to get insurance to cover this testing. Genetic testing is something that most insurance companies DON'T cover since they feel it is only a way for the parents to make reproductive decisions. REALLY? What if we didn't have the testing and had another child that was worse off than Emmie on their insurance policy?
Doesn't seem like a smart choice on the insurance companies part but THEY WOULDN'T COVER IT.   The testing was going to cost around $4000. We decided that we had to wait and save more money. Our decision on having another baby could wait.

The outcome of the gene test wouldn't effect Emmies immediate treatment until they made new discoveries through research.
If she has the GPR56 gene...there is a large possibility that my husband and I are both carriers of this rare gene. This would mean that if we decided to have more children that there is a 25% chance that our other children would also carry the gene.
Since Emmie is such a rare case and doing so well....they cant assure us that other children we would have with the GPR56 would also do as well as Emmie and could actually be much worse. OUR LITTLE MIRACLE! We love her so much!

The Walsh Lab sat with us for much longer than we thought they would be able to and answered ALL our questions (I had a list as long as my arm).
I've never met such an amazing group of people that made us feel so comfortable and put our minds at ease considering the situation we are now in.