This coming Thursday is very important. It's a day that Josh and I have counted the days down to. Over 7 months ago, we went to a genetics appointment where we decided to move forward with Exome testing on Carter. In order to do this test, all 3 of us had to give a blood sample and we signed many consents agreeing on the steps of the test. This is the last genetic testing that is available at this time and our hope is to find the mutation in Carter that would explain why he is so severely affected. To this day, every single genetic test we have done, has come back normal. All we know is that his Mitochondria in his muscle biopsy have mild defects, but it doesn't tell us why. The reality is, we still have no idea why Carter has what he does. Some people may wonder why we keep searching since there won't be a magic fix and it won't change our treatment options. But to us, it is important. The hardest part of this journey, is not knowing why. We don't know what the risk is for our girls and their future children. So when the mention of Exome testing came up, we didn't even hesitate to move forward. It was on December 11th, 2013 that we sent our blood samples off to a special lab in another state and started the waiting process. One month ago, we got the call that results were in and we scheduled the follow up.
The events of this next 2 weeks has lined up in such a way, that I have to believe it's all meant for a reason. Some special reason.
With the 5K in Carter's honor fast approaching, we were invited to be on a segment of our local TV show called the Bart Hawley Show. Luck would have it that the only day they can have us on, is Thursday. We will leave the hospital from getting Carter's Exome results and head straight to the studio to be interviewed. All the reasons that we are planning this event to raise money for research is what we are anticipating at this appointment. Our biggest hope is that researchers can better pinpoint Mitochondrial mutations, treat them and ultimately, cure them. That all begins with answers. And here we are, going on TV to talk about the event and why it is so important to us. I am nervous and excited for the entire day. I have no idea what to expect or how I will hold up. But in my heart of hopes, I hope that we get answers, that I hold strong during our interview on TV and that our event is a huge success so that as all these things line up, we can make a difference.