Moving Forward

Yesterday we had an appointment with a new Geneticist here in Jacksonville. We were not happy with with the first one we saw as we felt like we were just left hanging. There was no "plan", no path, no direction, no next steps... no answers for Elle. We were able to narrow down the 2 most important things with the new Dr.

1. We want to test to determine if what happened to Elle can happen again if we wanted to have another child.

2. We need to work towards narrowing down a specific syndrome so that we can learn the best ways to help Elle.

They drew blood, which was awful. When they took Elle's blood in the hospital, she was so out of it that she really didn't fuss. Yesterday, she was fully alert and not happy. I can't explain in words how it feels to hold you child down so that her blood can be drawn. We both cried equally. Fortunately, Andy was there and was able to help when I couldn't do it anymore. Elle was a trooper and was praised by Miss. Lily :-) We should receive blood test results back in about 3 weeks. Those results will help determine what test, if any, come next.

They will also be sending Elle's MRI to Dr. Dobyns at The University of Chicago Medical Center. Dr. William Dobyns, Professor of Human Genetics, Neurology and Pediatrics has made major contributions to the field of human genetics, particularly the characterization of human brain malformations. Dr. Dobyns is a recognized expert on birth defects of the brain, especially lissencephaly, or smooth brain disorder. Together with David Ledbetter, PhD, former director of the University of Chicago Center for Medical Genetics, Dr. Dobyns discovered the gene that causes lissencephaly in Miller-Dieker Syndrome and in other cases of isolated lissencephaly. Over the years, he has made significant contributions to the understanding and classification of many different brain malformations.

What does all of this mean for Elle? We don't know. We do know that it doesn't change Elle's MRI or condition. What we are hoping for is the opportunity to learn more about it and how to better help her have the best life she can have. I'll be sure to update the blog as we find out more information.

I am always surprised when someone leaves a comment or tells me that they read the blog. I always appreciate it when people take time from their lives to read about what's going on in ours. You know who you are...Thank you !!

We still have not scheduled Elle's hip surgery for this summer. Hope to have more information on that next week. Until then...we will just LOVE, HUG, KISS, and TEACH that little girl as much as we can!