Pioneers?

Last week we took another step in this blind walk we are taking. There is new, high powered genetic technology that can map out the entire human genome. There is a research project that can compare data extrapolated from the DNA tested. The intent? To decipher the data and point to a gene that is, as we say in our house, "broken". The goal: discover what happened to Eric and Ava. The result: the discovery of a new gene that effects and causes Mitochondrial disease.

To play we need DNA and lots of it. Eric's DNA and Ava's were extracted from their muscle samples. Allan and I needed to donate lots of blood to the cause. With our hearts in our throats, we agreed to the research project and scheduled a time to donate samples. We got a sitter and planned to trek our way to CHOP at an ungodly hour so Allan can get to work. We mentally prepared for the trek, remembering that the last time we did this our sweet baby bug was snuggled and bundled in the car seat behind us.

Then I got the email. They needed samples from at least one unaffected sibling as a control. Well we have 3 unaffected, as they say. Yet were are the ones who are still on earth, so technically aren't we the most affected?

We call a family meeting and explain what is going on to the best of our capabilities. We let them know that while we would never force anyone to donate blood, we have to have one bug willing to do so. We also offered up a sweet deal for those who participate ( a toy and a family trip to Pump It Up). Hey, we aren't above bribery if you are going to do something big.

We made certain that they understood that what we are doing is to help in the future. We also made sure they knew that it is voluntary. After an afternoon of talking about it, playing phlebotomy and asking questions, the bugs went to bed. The next morning, lots more questions and sister playtime. Next thing I know I have my three bugs in front of me. There was a sister meeting and a unanimous decision to "do the blood thing for Ava".

We were so proud that they even decided to come with us. Honestly, it made the whole experience tolerable. Instead of an childless van, last week Allan and I drove a van brimming with sleepy bugs to CHOP.

All in all we only had one bug complete the deal. But we had another come close and a third willing to try, but we ran out of time. We are so proud of them. Their willingness to help and the fact that we went all together means more to us than we could ever express.

No doubt about it, that was a psychologically tough day for all of us. I really felt as if I was walking down hallowed halls. There was the scale Ava was weighed on. I recalled the relief I felt when I thought she was gaining and then realized that it was how it was calibrated. There I sat in the chair Ava and I sat in to have her blood drawn. There was the memory of how hopeful we felt after Ava's initial appointment. We were told she definitely had hearing loss and that she was definitely appropriate for a child of her age and gestation. Oh the hope we felt. It carried us through all we had next to endure.

We left that day as we did the time before. Hopeful for answers and fearful of what they may be and the implications they may hold for our family, the medical field, and the reality of what happened to our sweet baby boy and precious baby girl.