Gavin’s Story

Thank you again for being here. Let’s start with a little background.  Troy and I have been married for 11 years, and also have Landon, our handsome eight year old.  Gavin is our second child, who is affected with Leber’s Congenital Amaurosis (LCA-NMNAT1).

Gavin was a challenged pregnancy. We thought we lost him at about 9 weeks.  An ultrasound confirmed I was still pregnant, after being told I had miscarried.  We were then told we were in the process of losing the pregnancy, and the baby would pass in 3 days.  After finally being transported from Las Vegas (where we were temporarily living) back home, at my OB’s instructions, we were finally told the true problem, and how severe it actually was.  Gavin still had a heartbeat, which was a glimmer of hope, but it was surrounded by a huge dark cloud that hung over us until I was about 7 months along.  This entire time I was on bedrest, with the very real possiblity of knowing at any moment, I could lose him.  It was a long, haul. Up until he was considered “full term” I was so scared of losing my baby.  He was affected by a huge rupture of the placenta, by a subchorionic hematoma that tore the placenta.  It did not reattach until 7 months.  Every day was torture.  When we finally made it full term, I was beyond thankful.  He’s had us worried even before making his debut on his birthday!

Gavin was born happy and healthy on Oct. 2, 2008.  Problems after the C-section, caused me to be taken away for about 8 hours until my vitals were controlled.  I only saw Gavin only at a glance, and a quick kiss on the cheek. I was pretty drugged up, and they wheeled me off pretty quickly to try to control the situation. When I finally was able to see him face to face, many hours later that night, it hit me.  Like a ton of bricks.

Something was not right.

Gavin looked fine.  Perfect actually.   He slept in my arms, peacefully.  Why was I thinking this?

I told my husband Troy, and he blamed it on the numerous of drugs I was on. I did too. The nagging, pit of my stomach feeling that I had, that something was not right – didn’t leave. It held on, and none of my own convincing allowed it to take a back seat. It stayed with me until we left the hospital; with the days and weeks following. I thought I was going crazy.  I also started thinking that something was wrong with me?  Maybe it was from the months of worrying every minute of the day that I was going to lose the pregnancy?  Whatever it was, which I learned later was instinct – was something I could not shake.  I truly thought I was headed to the white padded room with no windows. I brought it up to the pediatricians, nurses.  There was no reason for concern, everything came back fine. I knew his eyes were not.

Gavin even passed every eye exam, at every well exam.

Each time he did, I told them, “HE IS NOT OK!” I wanted to scream!

Finally at 3.5 months of age, I was on my knees in my living room. I cried the deepest cry I have ever cried in my life. I needed confirmation for my son, or I needed medication for me. Something was not right, and I felt like I was losing my mind. ” PLEASE DON’T LET MY BABY BE BLIND” is what I repeated over and over and over for about 5 minutes. I picked myself up off the floor, called Troy, and told him to pick up Landon. I needed to do something.

I called his pediatrician (whom I adore), and I told him I was on my way. I informed them very urgently that they needed to see us, and I needed to talk to him AGAIN about Gavin’s eyes. I knew that would get me in the door.  I also knew I was not leaving that office without a referral to a pediatric ophthalmologist. He sensed it.  He agreed, and wrote me the referral.  With a slight sigh of relief, I left the doctor’s, knowing in two weeks this feeling would end.  Whatever the outcome may be.

Two weeks later, at the specialist appointment it was confirmed.

Gavin was blind.

There was no cure.

Gavin’s pediatrician called days later, and told me how sorry he was. Gavin was his first child who was blind, in his practice… and his first LCA patient.

That kind of sets the tone for the next few months. The anger, sadness, frustration. Everything I have felt since the day he was born – it was confirmed. Honestly, I was a little bit relieved. No, not glad, or happy. But, FINALLY someone was listening, and there was something wrong. Mind you, before we went to see Dr. Lee at Children’s Hospital, we had no idea what it was. Some sort of retina dystrophy, but was there an infection that caused his retina to look deteriorated, was there something else wrong? The word cancer and tumor and other awful possibilities were all brought up. This went on for two weeks before we could see Dr. Lee.

I scoured the internet for information on retina dystrophies, and quit my job, all the same day. I had just started working again, from home. I feel like after the information that was given to me… this was going to be a long journey, and Gavin needed me more than I needed my job.

We found the Foundation Fighting Blindness. They were having “VisionWalk” in a few months. I had no idea what this was. Troy and I talked, we felt we had to participate.  and that was the start of “Gavin’s Groupies.” We needed to channel our sadness. We needed to do something, and be a part of whatever this is that we are faced with. We still didn’t even know the name for sure – but we did raise almost $10,000 for the Foundation Fighting Blindness in 2.5 months!

We realized, this is the direction we want to go. We want to challenge this disease, and use Gavin’s name for more. This is bigger than us; bigger than Gavin. This is our opportunity to share our story, and raise awareness, and raise money for research. We thought “We can do this.” It took over a year, because honestly I didn’t have the mindset nor the fight in me at the beginning to take on a non-profit. It took about a year, to let it all sink in. We started the Gavin R Stevens Foundation in June 2010. Our purpose is to raise money, and awareness.

Why did we start the Gavin R Stevens Foundation?

There are approximately 17 genes that cause LCA. We don’t know yet what gene mutation Gavin is affected with… YET. We are in the process of testing. Once it is identified, our hope is to start research on his genetic mutation. This is where all the money we are raising is going to go. We want to fund a research team to work directly on Gavin’s type of LCA. We are getting there! We need to get his gene identified, and then can proceed with research. The big focus is on the RPE65 gene – which has been HUGE! Medical science reminds us that we can move forward with hope. Eventually what we are doing will help Gavin, and others with LCA!

You are all part of something that will potentially change the direction of medical science and LCA. We have a long ways to go. There is a lot of work that needs to be done. I always say, we may not be doctors or scientists; but we can do our job by raising money and raising awareness! Troy and I envisioned this, and it’s all unfolding before our eyes, although we didn’t have the strength to work on this until Gavin was a year old.

We are beyond blessed to have you support directly, or afar. To cheer us on, or to share our story and our links. The numerous emails that I receive of support, or of fundraising you are doing to help us – is incredible. ALL the money is going to research! You are a part of this journey with us, and a reason behind one day, Gavin possibly having some vision in his life.

We couldn’t be more proud of our friends, family and those that have already made a difference in our lives.

I have sadness for my son. I have hope for my son. Because of all of your support, I have gratefulness overflowing in my heart. Thank you for learning about our story. The very fact that your interest lies in our little boy, makes us proud, humbled and feeling like we are truly making a difference. With your help, I know we will.

Until he can see the sunlight that warms his face…. we continue the fight.

www.gavinsfoundation.org

** There is a lot that has happened since this was written.  Through whole exome sequencing, with the help of Dr. Chiang, and researchers in Beijing, Gavin’s gene has been discovered. Gavin carries the 18th known gene that causes LCA (the NMNAT1 gene).  Our fundraising efforts, met this discovery in perfect timing, as we are embarking on a big research road for this gene, thanks to the Gavin R Stevens Foundation!