Wednesday, August 27, 2014

Isla Rose Update


I wanted to share a quick update on our sweet Isla Rose.

 Just recently, Isla had a PT evaluation and we talked about all she is doing and what tools and tips we can use to help her thrive. They seemed to be very impressed and pleased on how well Isla is adapting to some things and really making progress. You know that makes us SO HAPPY to hear!! 
As some of you may or may not know, Isla is slightly delayed due to her impaired vision but she seems to be really coming out of her little shell over the past few months. She wants to walk and is getting better about trying.  Just this past weekend, she took three steps towards Douglas and I. It took us by complete surprise but we sure did cheer her on and she loved that. She hasn't done it again since but we feel that she will start on her own time and we are still OK with that.
 Just a few days ago, we got a call followed by an email about Isla's genetic testing and that they are wanting to do some additional testing.  Testing that could could possibly give us more answers.
In Isla's previous genetic testing she had done it had showed the variant in one copy of the CRB1 gene. In cases of LCA caused by the CRB1 gene, you would usually find change in both copies of the gene. So before they get Isla started on the Whole Exome Sequencing study, the study team wants to look at the CRB1 gene again, in a different way to be  sure they are not missing a change in the second copy of the gene.  This additional way of looking at the gene is called "Deletion/Duplication" Testing.  Which means they will take Isla's blood that's stored from the initial draw and use it to look at that particular gene again.  Once this testing starts, it will be about a month before we know any answers and move forward with the Whole Exome Sequencing study.  I will keep you posted as we know more.
One last thing!!
Don't forget to help support our team, "Isla's Eyes", for this years upcoming VisionWalk for the Foundation Fighting Blindness.
 To find out more, click HERE for more details.
Thank you so much for stopping by.

1 comment :

  1. New to your blog and already love it! Your daughter is too cute!! Xoxo