FINAL GENE DISCOVERY RESULTS

In my last blog post, I shared that Dr. Chaing and Jennifer Stevens were going to help us undergo additional testing in attempt to discover Duke’s and Skylee’s LCA gene type. That was an exciting moment to know there was still hope even though we'd been given 'undiscoverable' results. If you would have asked me how long I thought the new discovery process would have taken, I would have guessed a year, maybe 5 or even 10 years. I really had no idea how long it would take but I was happy to know we were moving forward. Well, let me tell you, we didn’t even have to start that new process. All the while, the UT Houston Lab that originally worked on our scanning was still undergoing extensive research on us even though they had already provided the ‘unknown’ results from their initial testing.

Image description: 5/7/2017 - Skylee (left) Duke (right) dressed and ready for church.

We received a call from Kaylie Jones of the Retina Foundation on Friday, May 12th that the FINAL RESULTS are IN!! WHAT!? How could this be? We were already told we were not a match to any of the known gene types. But apparently the gene type I carried was new and had recently been identified in only one other person. Of course! Leave it to me 🙋🏼 to be the oddball carrying the rarest of the rarest of the rare gene causing so much complication!!

We recently received the official results in the mail and all the details are a little foreign to me but for anyone interested, we carry the CEP290 LCA gene (c.1347dupA; c.2991+1655A>G). So what can we do with these results? Well, gene therapy is the next step. And believe it or not, on that same phone call where we received our gene results Kaylie also told us that clinical trials have just begun on our specific gene type!!!!! WHAT - WHAT! Praise God! Halleluiah! Matt and I were so thrilled and shocked to hear this news. How did we go from knowing nothing and hanging on to only hope, to now, results AND clinical trials for a cure! Only God! And Your prayers!

Ok, so now that we are settling back into reality, we have to remind ourselves that this in no way means that vision is guaranteed to be restored to our babies but it does mean progress, wonderful progress. The current clinical trial can’t be performed on children as young as Skylee and Duke and there are a gazillion other factors that determine if you are still yet a candidate and if these therapies will even work but the fact that there are 20 known LCA gene types and there are only 2 types currently undergoing clinical trials and WE ARE A MATCH TO ONE OF THOSE, is simply a miracle and I could not be happier with this news and to share it with all of our friends supporting us on this blind journey.