Looong Day

I screwed up on a million fronts today. Before 7:00 am I had already overslept, forgotten to eat breakfast, forgotten my directions, and failed to confirm where we were actually going for Seren's genetics appointment. Stellar. Like a complete idiot I actually thought that I would be able to get Seren to Duke and back in time to get Gray to a birthday party in Raleigh at 11:00. Seren's appointment as at 8 so I figured we would be done by ten and home in time to get to the party. Ha! Ha! Ha! I didn't get back to Raleigh until 2:00 in the afternoon and I didn't bring any food or drink with me. I was starving . Seren's sweet nurse wouldn't even let me buy her lunch. She had to be ready to pass out! I hadn't even made lunch arrangements at home for G. I was a complete trainwreck. Seren had enough food though so we at least took care of the wee one.

Discombobulated morning aside, I really like the geneticist we saw today. She had a really nice manner about her and seemed to really know her stuff. I liked the way she explained things to me as well. We also got to work with a genetic counselor that specializes in genetics related to eye disorders so it was nice to talk to someone who could really explain things in detail. I really appreciated the advance work and paperwork they had prepared for our visit. The geneticist at UNC and the geneticist at Duke agree as to a probable diagnosis. We have had blood sent off for testing but since we are part of a study the timing works differently and it is anyone's guess as to when we will find out any results.

I have to say that genes are fascinating. They are at the very core of what makes us people. The only thing I remember from high school science class was the square of dominant and recessive genes and how they are passed on to children. Its amazing how one tiny thing can send information to so many different parts of our body. One thing I've learned though this process with Seren is that we all have genetic mutations. Most of us have mutations that don't affect anything. However, in Seren's case the mutation was somewhere critical. It is what changed everything for us. Maybe today we got a tiny bit closer to getting some answers.