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!

Changing Tides

I'm not really one that likes change. Flashback to High School. I'd get my class schedule, muster up the courage to walk into a new class at the beginning of the new year, find a seat and get settled. Within a few days, for reasons unknown to me, class schedules would change!! I'd get so upset. Now I have to do it all over again...a new path, new faces, another new seat...Life should still be so easy :-) It funny how almost all things change in our lives. Sometimes we crave it and other times we try to avoid it. Some of the hardest change comes when people leave our lives. Today was one of those days. Today was "Miss. Jenny's" last day with Elle. Jenny has been Elle's physical Therapist since Elle was only 3 months. She is an amazing soul and a great physical therapist. We have seen so many results from all that she has taught us on how to help Elle. Although we will still keep in touch with her, we will sincerely miss seeing her bright smile twice a week. She's off to do a Neuro residency at a local rehabilitation hospital for 9 months. We are so happy for her because she will be doing what she loves and helping others get well but at the same time, we will miss her. Elle's goal is to welcome her back in 9 months with a verbal "Hi" and a wave.

Good Food, Good Wine & Good Company

What a great way to end the weekend... with good food, good wine & good company! Ever since we built and moved into our new house we have had the good fortune of getting to know our neighbors. Their names have been changed to protect their identity- we'll call them "Bob & Mary" :-) I realize that not everyone likes to be mentioned in a blog. Tonight, we were invited for dinner. As always, everything was delish!!

Elle even had a play mate during this visit. Zach, who is 16 months, had his big, blue eyes on her but she was playing hard to get. That's my girl. Zach is absolutely adorable and very well behaved. He colored, danced and even amused us with his knowledge of animal sounds. The things that I never gave a second thought before everything changed with Elle seem to hit me like a ton of bricks these days. A baby giggling, a toddler taking those shaky steps while mommy or daddy hold their tiny hands for support. I find myself mesmerized, staring... and then it starts. It starts at my feet and pushes right into my chest. It's the feelings of frustration, guilt, a grieving over dreams and what's reality and anger. Before I know it I am fighting back tears and having to count to ten to regroup. "Pull it together" I keep telling myself over and over until I can take that deep breath and settle myself inside. Fortunately, I am usually able to remove myself from the area. Tonight was one of those nights. Fortunately, Elle was there tonight and one look at that little face made everything OK. It's funny how as a parent we are there to comfort and soothe our children but the opposite happens at times. We can look to them and they can comfort and soothe us with just a look. In the end, "Mary's " peanut butter brownies were the best medicine. Isn't it funny how a little bit of chocolate & a glass of wine can make you feel soooo good?!