Wish For Allie

Thursday, December 31, 2015

PCDH19 Diagnosis

After 12 years we have an answer to a few things. A seizure gene panel was done after I requested it. Children's of Colorado Melissa Gibbons the genetic counselor called me (October 2015) and said, "Joni, you were right. She has a mutation on the PCDH19 gene."

I cried.



It was 12 long years of "fishing" in several hundred ponds.
Now we have one pond to focus on.


Does treatment change? Nope. Not right now. 
Not until we can find out more about this genetic mutation.

Here is more about PCDH19.