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Monday, August 2, 2010

Gene? What gene?

This past weekend was the LCA Conference. What an experience. Not just with gaining knowledge with the medical information presented. The connection to the other families, is very hard to describe. Pretty much every person attending had a child who was blind/visually impaired due to LCA. There were over 100 families (I believe) that attended. There is an unspoken connection you can feel amongst everyone. We have all probably felt 'something was wrong', we have all been given the diagnosis about our child. We have all heard those words there is no cure, and I am sure we have all experienced the roller coaster of emotions that come with that diagnois.

We met with some pretty wonderful people. Those that I have been communicating with, but have not met yet. I will do a post on that later. I'm sure they will be our life long friends. :)

In addition to all this great news, we came to the conference not knowing which gene has caused Gavin's blindness. There are 15 known genes that cause the LCA disease. We have been waiting since Dec. '09, which is when we submitted his blood work to the Carver Lab at the University of Iowa. The Carver Lab is where Dr. Stone is doing all the research, to find which gene is causing LCA in the individuals affected. Typically, it takes a few months. Out of those 15 genes, they are really focusing efforts on the RPE65 gene. That is the gene they have actually have success via gene therapy. Corey Haas, the little boy I wrote about before, has the RPE65 gene AND was the youngest in the world to receive gene therapy. His vision has improved in the eye in which was treated. It's a fascinating story, and so inspiring, and I could have hugged that family this entire weekend. Like Dr. Bennett said, Corey, and the Haas family, are the true pioneers.

Back to Gavin's gene. We had a chance to meet with Dr. Stone this weekend. I had a few questions for him (what a kind man). He ended up making a phone call to the lab, and we ended up finding out from Dr. Stone, that Gavin's gene is one of the unidentified genes. Which means, for those genes that they know about, Gavins is NOT one of them. For an odd reason, I had a funny feeling this was the case. I told our family members that I think Gavin's gene is not one that has been identified, or at least that would be our answer from Carver Lab. And so it is.

This means a few things. I will divulge later when I can. But for now, we are already doing some more research on getting an answer, our blood work will be moved to a second phase of testing at the lab. This can take months. Of course I am anxious to find out what gene he has, so we can move towards the funding of the researchers working on that specific gene. We can't do that without knowing the gene. There are some people who don't sense our urgency, and that is ok. But with every discovery of each gene, it can potentially blow open the doors for all the others. Hence, the name Project 3000, that Dr. Stone heads. Their philosophy is to find all 3,000 people in the country who have LCA, so they can test their gene. I may be losing you, I enjoy the medical, gene information. I can go on and on, but will save that for later. In an ideal world, we would have loved to have been given a gene. I know at some point, ALL genes will be identified. But for now, only about 80% are known, which is about 15 genes. Gavin's gene is not one of those known. This means we work harder, better and more efficient with our fund raising, so when the time does come, we are ready. Ready to fund the researchers and scientists.

I have to admit, although I had a feeling Gavin's gene would not be identified yet, it was still a little difficult to hear. Either way, it doesn't change things today. Our objective is still the same, and we will continue the march ahead with hope, persistence and above all, optimism. I have hopes that through our fundraising, and raising awareness, we will not just be trying to help Gavin. We will be helping all those affected!


  1. You didn't lose me :) I was so interested to hear this. You guys amaze me! You are changing the world of blindness one day at a time.

  2. It was so great meeting you! I know that with all your amazing efforts and energy, Gavin will see someday!

  3. Wow, well I know you guys will find the gene and I still can not believe all you are doing. You are definitely an inspiration and as a mother, someone we should all look up to and strive to be like. Im a firm believer that "one" can make a difference and you are proof of that!


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