Well I am late to update again... and boy is there a lot to to update on!! Just a heads up this is gonna be a long post.
As 2011 came to a close we thought so would a lot of our questions... not exactly how things have panned out.
So in 2012 we were given a diagnosis of LCA, Lebers Congenital Amarosis. Then in February that was taken back, because the genetic confirmation tests didn't confirm it. There are 17 known genes that cause LCA, so of those known genes, Aves were all normal. All that really means is we are back to the drawing board. Averie or Averies previously drawn blood is still part of igene, so we could potentially hear new news at any time. Now with the LCA off the table, the Doctors have us keeping an extra eye on how Aves continues to develop. Mainly they are using this time to see if any other symptoms present themselves. In the grand scheme of things we have been beyond fortunate enough to have caught Averies condition at an exceptionally early age/stage. So looking for other symptoms to develop could essentially narrow down and rule out other potential diagnosis.
So with one foot forward, life does goes on, and on some positive notes, it's been nice to not have doctors appointments, (at least not for eye related issues that is). In January we finalized Averies IEP and I am happy to report that everyone involved with that process was beyond helpful, encouraging and actually the whole process went very smoothly and drama free. Averie started Braille at her elementary school, which is very exciting for several reasons. 1. She will be very acclimated to her school when she starts going there for KINDERGARTEN in August... boy does time fly!!! 2. Learning Braille now will ensure Averie is able to be as independent as she wants to be and not totally reliant on technology. Averie also learned to ride her bike without training wheels!!!! This was one of the things that I was worried about Averie not being able to do when we first got the ONA diagnosis. It's nice to know that even with the potential of further vision loss to come she will always be able to ride a bike!!! I am also happy to report that we have not seen any developmental changes in Averie. We also got an IQ evaluation done which made me feel much better about where Aves is cognitively and it also provides a baseline for the future if anything were to start to change so that we can, again, catch things early.
As many of you know my family and I have found our way to The Foundation Fighting Blindness(FFB) I am beyond impressed with the people I have met so far that are affiliated with this foundation. I haven't participated with very many events but the few I have, I have met some really great people and they are SO enthusiastic about the research and medical break through that the Blind community has seen in the last year and a half that I know with out a doubt that we are on the right track. Speaking of track, many of you might also be aware that on Saturday, May 5th, 2012, my family and I will be participating in FFB 's signature fundraising event the VisionWalk2012 in Reston. I want to personally invite everyone to come walk with us and join our team, "All eyes on Aves". Anyone who walks with us will recieve a T-shirt and there is also a T-shirt contest the day of the walk as well. Since this is my first year being involved with this Foundation my main goal this year isn't so much monetary as it is awareness. My main goal is to have 40 people walking with us. If I can get everyone aware of this Foundation I feel it will allow us, for the years to come, to gain momentum for my fundraising efforts ect. I think getting people to know and understand just how close science is to finding cures (and not just for blindness) is truley astounding! Of course I do also have a personal goal of raising $2000, but there isn't a minimum if you just want to come out and support our Aves. If you do plan to walk it is VERY important to register (everyone individually in your family) for our team and you can do that by going to http://www.blindness.org/ click on the yellow VisionWalk icon and find our team (All eyes on Aves) and join it, again the more the merrier. I hope to update this blog again before the walk and of course again after the walk with pictures. Speaking of which if anyone knows of a good photographer that would be willing to attend the walk and take pictures of our awesome team please let me know or pass along my info!
XOXO
~A
