Taking the First Step to Gene Discovery

Hi friends! I have an exciting update to share with you!  Just a couple weeks ago I was telling the story of how our children were diagnosed with LCA causing blindness from birth and how we learned that we fall into a very rare category of the unknown LCA genes. We thought that was the end of the road for us while we waited, hoped and prayed that scientists would discover someone else's matching gene.  Then it hit us! We need to be the ones scientist are researching! We need to be the first line of discovery and hope for our children.  God almost immediately opened a new door for us and I am writing now to tell you that we have taken the very first step in having our LCA gene discovered!

I was chatting with another LCA adult on the LCA Facebook page (Facebook has a group for everything these days, right) and they mentioned that Jennifer Stevens, the mother of another boy with LCA, was instrumental in helping to discover her son's gene. Her son, Gavin, was recently on the show Little Big Shots.  You have probably seen the clip I've shared on my Facebook page. Gavin is quite the talented young man especially to only be 7 years old! He has been invited to sing our National Anthem at many professional sporting events too. Very cool! So with the recommendation to get advice from Jennifer Stevens, I immediately reached out to her to ask her opinion about where Matt and I could start in order to get our genetic research going and in the right hands. 

 Jennifer quickly replied to my email and shared that since the discovery of her son's gene, she now sits on the board of the clinic doing research and is able to get a few families in each year for testing and she would be glad to get us in touch with the doctor. I was so excited and quickly reminded that God is everywhere! In everything we say and do and He weaved together the perfect little path that lead us to this special momma who was instrumental in helping discover her own son's LCA gene.  I gave her all the details of our past DNA testing and she has already started talking to Dr. Chaing of the Molecular Vision of OR (MLV)! There's no guarantees but it's a start, a great start I believe.  We will have a talented and experienced doctor reviewing our exact DNA.  Not waiting for someone else's to be discovered and hoping we are a match, but this is a fighting chance that results will be found on our own DNA and hopefully we can help others someday too! I am not sure of the exact next steps but it will likely involve providing new blood samples from both Skylee, Duke and possibly Matt and I as well. I cant wait to see what's in store for us next! 

Please pray for the doctor and research team in their discovery.  

Happy tears!  Happy smiles!! 

Here's a link to Gavin's story. https://www.molecularvisionlab.com/lca-gene-discovery/

Image description: Family photo taken March 19, 2017