Oral Medication Therapy

Yes I know I can't seem to stop talking about gene therapy, but it is the pioneering it's way through the arena of treating blindness. How can I not talk about something so exciting. Below is what I got off the FFB website. There are a lot of links out there with explaining how this works, but this was a pretty straight forward, not overly scientific type of explanation that will just confuse you. It does get pretty complex!

How Does Gene Therapy Work?

Virtually every cell in your body carries a complete set of an estimated 20,000 to 25,000 genes. Genes instruct cells which proteins to make, and these proteins are essential to the health and functioning of all your cells. Most inherited retinal degenerative diseases are caused by a small variation (mutation) in a single gene. These variations are like small misspellings in an instruction manual. Even a small misspelling can cause the wrong protein or wrong amount of protein to be made. That can lead to serious consequences like degeneration of the retinal cells that enable you to see. Scientists are developing gene therapies to deliver a new, corrective gene to the retina, so cells make the right proteins, and stay healthy and functioning properly. Man-made therapeutic viruses are one way to deliver the corrective gene to the cells. The viruses are said to “transfect” — or penetrate — the cells with their healthy genetic cargo. Gene therapy is administered by injecting a tiny drop of solution — which contains the virus and new gene — underneath the retina. The solution is absorbed into the retina over a period of hours. The elegance of gene therapy is that one treatment can potentially be effective for several years or perhaps a lifetime.

Now that that is explained, there was a new article that was emailed to me.

There is a new oral type of medication that has had promising results so far. From what I know everything so far, in a clinical setting has been given via a shot injection into the retina. The link is here for further reading, It showed the younger the patients (in clinical trial settings) the better seemed the results. Future trials will include those who have the RPE65 gene. Upon this discovery, is the hope they can apply learning, findings and conclusions towards the other genes that cause LCA. This gets complex, but they are pretty much focusing on the one gene (RPE65) in clinical trials. We are still awaiting our blood results from the Carver Lab, but I do not think Gavin has the RPE65 gene, based only on the characteristics I have read.

BUT...

HUGE BUT....

Do you see our urgency with trying to raise money, awareness, etc? We are on the brink of a breakthrough, and this is happening during Gavin's lifetime.

It's happening today. It's already happened to other children. Vision HAS been restored. How crazy is that?! I cannot sit back and not be an active part of this. Just by little ol' me in the little ol' cow town city of Chino raising some money and awareness while we are at it - is us being a part of it. It may not be huge, but it all starts somewhere, and we will keep marching on and trying to get any way possible for people to remember us and our mission. That mission being raising awarenss and money. Bottom line.

He is still a baby (ok a toddler). This is the time to be passionate, and I couldn't be in a better position. I am a passionate person by nature, I am a "do'er" and think everyone should play an active role in life, and I have always wanted to help people, and my drive is my son. That equals perfect combination.

This leads me to say it is still not too late to walk with us or donate! VisionWalk is in a few weeks! Even a $10 donation will bring us closer to our goal. Like how I throw that in there? I'm getting sneaky. :) Help this little guy out. Help us get him out of the darkness.

Gavin, Mother's Day in San Clemente. First time on a pier. He liked hearing his little feet hit the wood planks. Here he was relaxing waiting for our turn to eat at The Fisherman's on the San Clement pier. He loved hearing the waves crash beneath him, and walking in the sand after dinner.

I'm a sucker for a beautiful sunset and some gorgeous clouds. Trees and clouds are my favorite. This is an idyllic photo for me.

I take time to explain to Landon how appreciative he should be to be able to visually see all these gorgeous things his little brother can't.

At 6 years old, he gets it.

We watched the sun completely set, until it disappeared. Once it was completely out of sight, Landon jumped up looking the opposite direction for the moon. It was pretty cute. I held Gavin and explained it all. He had his hands up the whole time, feeling the cool ocean breeze. He loved the ocean, and we will be making more trips to the beach this summer.

This is why my family does what we do. We have to do our part. Even if it's just a little. In time, little things may one day be big things. Right?

One day gene therapy may help him and many others to be able to visually see this.

That's enough for me to know to continue on. And so we do...