The Answer that Changes Everything

So for a little more than 6 years, our family has been on a journey we never thought we would travel. We have learned so much about ourselves, each other and our amazing bodies and minds that God created. After having much testing done with our own neurologist and traveling to world renowned Mayo Clinic for further testing, we were still left with the unknown. There was no known cause for why Claire is like she is. There was no reason for her seizures, her delay etc. Not that we had given up hope, but we had resolved ourselves that we would not know why. We just learned to accept her as God created her to be. And what a joy and blessing she is.
So much to our suprise, in September 2012, our neurologist asked if we would be willing to consider trying this new panel of genetic testing done specifically targeted at kids like Claire who started seizures so extremely early (weeks old instead of months or years old). We said sure, what do we have to lose. This testing would involve one small vial of  blood that would then look at 38 genetic disorders. Some of these disorders we had been tested for  before and they always had come back negative. We had the testing done and then the waiting began. We actually waited so long we almost forgot we had even had this testing done.
Then on Monday, out of the blue, the Dr. calls. Sure enough, Claire tested positive for one genetic disorder. My mind is still swirling about this possibility. As the Dr. said, this gives us an answer to they question why, but there is no cure, yet.
So this is the answer that changes everything and nothing all at once. We have a reason why she has seizures, delays, trouble eating, small hands and feet and even why she crosses her legs all the time. But for now, there is no treatment.
She has been diagnosed with CDKL5. www.CDKL5.com A very rare, genetic disorder. Only 200 known cases worldwide. Whew! Speaking of being fearfully and wonderfully made. This genetic mutation happened upon conception. It is not based down from the family and won't be passed down to other kids. It truly could only happen as God designed her. What an amazing idea!
We continue to hang onto hope now that some day, wonderfuly doctors will find a cure for this. Something that will treat that particular gene. But even if we never see that day, thank you God for your amazing creativity in creating Claire. Thank you for blessing our lives with her. Thank you for entrusting her to our care. Thank you for this journey you have placed us on.