The search continues.....

Today was a long day of appointments for Gabby. My eyes hurt and my head is still swimming the in depth discussion I had with our Research Genetics doctor, Dr. William Dobyns. We are lucky to be working with such a passionate man who really wants to learn all he can about his patients and families to try to help others. It has been 2 year since we have sat down with him to discuss Gabby and her health issues, but it was time well spent. He walked in talking about Gabby as if it had only been a short time since our last meeting, he knew all about her recent stays and medical hurdles. I will try my best to sum up all we talked about here, but know I am tired so this may all be a tad jarbled. Some of the things we discussed are tough to talk about, so bare with me as they may be vague in detail still.

Dr. Dobyns is so interested in Gabby he has invested a great deal of resource, time and money into helping us all learn about the cause of Gabby's health issues. He sat and talked to me like we were colleagues, not like I was someone who wasn't trying her hardest to comprehend all the big words and complex processes. He just made me feel confident and competent. We were in appointment for almost  1.5 hours!!! Never once did he rush my questions or look at the clock.

First was the research in Helsinki, Finland. That is still going on even tough I figured after a year and a half of no information that meant she was negative for the gene they have identified over there. It turns out they are 'just slow' according to the doctor today, so he didn't wait and began his own testing with a sample of DNA from Gabby, Greg, and Me. Some of that has come back recently, and with some abnormalities. So, if I am understanding correctly the next step is identifying specifically what is abnormal. One they have conformed was a false positive. Dr. Dobyns gave me the email address to the guy he is working with who is doing the lab/technical stuff and encouraged me to be in touch with him throughout the process! I was so excited to know we didn't just have to sit back and wait. 

We talked about the brain atrophy, and the fact he is fairly confident for the time being it is all status quo, and any deterioration from now "SHOULD" be subtle, meaning her developmental issues should be baseline now. 

He suggests we put most of our focus on her seizures, since that's really all we have an opportunity to control (or gain some type of control, which we have never really had). The term quality of life came up again, and we were both in agreement that seizures can really disrupt any type of connection she may be making with her surroundings, so getting a strong handle on that (as best we can) should be top agenda. We are in the process of changing up meds, so her seizures have been an issue again...but hoping we get back to keeping those numbers down again soon. Always a long process to change meds, and Gabby get's so attached to them, it can take up to a year to accomplish our goals.

And with that quality of life discussion came the topics I just don't want to revisit yet. The what to do if, or when do we consider..... we aren't facing them just yet, so I chose to see the wonderful things every day we get to enjoy with each other. I am taking the suggested steps and talking to a professional already on being in a strong place....but why miss out on what is here while worrying about what may be there later. 

Overall I am hopeful and terrified. There is a SLIGHT chance something uncovered could have some type of treatment, or therapy or tools to learn from to continue to improve Gabby, no cure but things that could assist her. I just know that no matter what we find, we will have learned from our adorable little teacher here, and what a great gift to share with the world, the gift of hope.

taken her first day in the NICU, arm up saying "I WLL FIGHT THIS"