FFB Dining in the Dark in Orange County

Last night, we attended the Foundation Fighting Blindness Visionary Awards & Dining in the Dark event in Orange County, at the gorgeous Fairmont Hotel.  I was hoping to attend the Symposium during the day, but with the kids, school it was a little difficult to get down there all day.

We always love the meet and greet reception time before.  The great drinks and appetizers, and rubbing elbows with some of the best names of the Foundation and research, are always great.  A few of my fellow Chapter Board Members were there, it’s always nice to see them in a dressy setting, looking fabulous!

I was honored to be asked to be guest honorary speaker for the evening.  We spoke at the beginning, which was great.  My speech followed Corey Haas’ video (below)

When Corey’s video started, we were escorted out.  I told them it would be best if I did not see the video, then have to take the stage in front of 350+ people seconds following the video.  It gets me every time. How can it not?  I managed the speech.  I have talked at previous VisionWalks, Kick off luncheons, our Foundation events, etc.  But I have not given a formal speech in a while.  Troy usually takes the reigns on that one.  He can manage the tears better than I can.

This speech, I was very nervous.  Hundreds of thousands of dollars were trying to be raised.  We were the only non-professional guest speaker, and looking out into the crowd of pharmaceutical companies, doctors, research scientists and the like – can be intimidating!

I was glad to manage the 5 minute terror speech.  Then I was glad to be in my chair, after the speech, with my wine.  The lights went off, and darkness engulfed the room.  I handled this one better than the prior 2 we have been invited to.  No tears, but lots of emotion. 

Thumbs up, a celebratory pep talk before and after the speech from Foundation Fighting Blindness CEO Bill Schmidt and Chief Research Officer, Stephen Rose is always a good thing.  Someone said there wasn’t a dry eye in the room.  I hope I did my son’s story justice, and able to help keep pushing research forward, which is our ultimate goal.

It was not until my drive home that I had phone calls, emails and texts from those who watch the show “Bones”.  The show airing that evening had LCA in the storyline!  Can you imagine.  I don’t follow the show, but a woman is pregnant, and they are testing to see if their unborn child has LCA.  Does anyone know how they find out that the mom is a carrier?  That struck me as odd.  But then again, I don’t follow the show, but am happy to see LCA get some exposure, since it is so very rare.

The full episode can be seen here:

http://www.fox.com/bones/full-episodes/

We had a great evening!  My dad and my mom #2 were also invited.  FFB wanted to make sure my parents saw their daughter speak.  How awesome are they?  I truly have a family in FFB.  I adore who they are, what they do, and their outreach with family.  It’s definitely an organization I am tied to, even though we will push forward with our LCA Research and fundraising.  We will always represent, donate, and help FFB with all they ask of us! 

Thank you Foundation Fighting Blindness!  I am honored and humbled to have shared our story on such a special and memorable evening for so many.

Gavin’s Genetic testing for LCA **Update**

We heard back today on Gavin’s genetic testing.  The results came back as we kind of thought “unidentified”.  As it stands right now, Gavin does not have one of the 17 known genes that causes LCA.

Since our results from the Carver Lab came back “unidentified” last year – my feeling was this was going to be the results.  BUT I did have some hopes, because more genes have been added to the panel, and I had some hope that one of those would be Gavin’s.

Where do we go from here?

Our DNA is being sent to China to have Exome sequencing done.  To not get too scientific, Exome Sequencing is further investigation of the DNA strands using a different method of identification.  I can explain it all here, but instead I linked it to Wikipedia if you wish to learn more.

This will take approximately 4 months.

I will update as I get more information.. but as it stands, hopefully over the summer we will have some news of Gavin’s genetic mutation.  Until then, we will keep doing what we are doing!  Pushing forward.  We do our part, and let the research scientists do theirs.  Might I add the Dr in Colorado has been WONDERFUL.  He is connected to the family on the other side of the DNA sample.  I cannot say enough about Dr. Chiang.

One of our things is the Irvine Lake Mud Run in April.  Are you signed up to run or volunteer?  Hope so!  We are the charitable beneficiary for 2011.

This is part of what we do.

Our story

I’m sorry to be loading you up with information with the recent posts.  I’m finding it easier to be able to blog about the majority of the questions we get, and share those links.  So, with that being said, here is another info post about our story.  I know friends and family know our story, but we have a lot of new supporters, that I think this will provide them with some insight.  I think it’s important for our supporters, new friends and anyone who cheers for us from afar, to know exactly what they are supporting and cheering for.

Thank you again for being here.  Let’s start with a little background.

Gavin was a challenged pregnancy.  We thought we lost him at about 9 weeks, then we were told we were in the process of losing the pregnancy.  Then I was told to be on bedrest until about 6-7 months.  It was a long, haul.  Up until he was considered "full term" I was so scared of losing my baby.

Gavin was born happy and healthy on Oct. 2, 2008.  I was having problems after the C-section, and taken away for about 8 hours until they can control all my vitals.  I saw him for 1 minute and that was it.  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.

I told Troy that something was not right.

He blamed it on the numerous of drugs I was on.  I did too.  The nagging, pit of my stomach sense 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, and days and weeks following.  I thought I was going crazy, and I also started thinking that something was wrong with me, and maybe it was from the months of worrying about every minute of the day that I was going to lose the pregnancy.  I truly thought I was headed to the white padded room with no windows.  I brought it up to the pediatricians, nurses.  Everything came back fine.  I knew his eyes weren't.

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

Everytime he did, I told them, "HE IS NOT OK!"  I wanted to scream!

Finally at 4 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 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 his eyes.  I knew that would get me in the door, but I knew I was not leaving that office without a referral to a pediatric opthalmologist.  He sensed it, and wrote me the referral.

Two weeks later, 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 detiorated, 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, 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 of last year.  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.

www.gavinsfoundation.org

www.tourdesight.org

Genetic Testing Update

I have not talked much about genetic testing lately, as I don’t feel like being so negative on this blog. If there is one thing that infuriates me, it’s insurance. Yes, a must-have, but we have got the run around. No, this is not a life or death situation, but frustrating nonetheless.

Gavin’s ERG took almost 8 months to clear, and our Dr had to fight for it.

Really?

We’ve waiting 1 year for the results from the Carver Lab, in which the gene was not identified.

Last July ‘10 we started the interest into looking to another facility to do genetic testing, we are now in March ‘11.

Now, we have been getting the run around, to cover the genetic testing at another facility. We were so close to just paying it ourselves.. but I didn’t want to give up the fight, in which the battle was half won. They approved, they denied, they needed more information. They approved, they withdrew, then the day of the last time we were to go give our blood sample, we got the call that they denied AGAIN.

Really? That was 3 months ago.

Leads us up to today. Finally we were told to go to Children’s Hospital and give our blood, and go through the copious paperwork. We were the first family who has pursued further genetic testing at this facility (from Children’s Hospital LA), so this was new to our Dr, and the great nurse that helps us with EVERYTHING. Thank you Kathy

We did that this past Monday, and we may get preliminary results today… 3 days later.

The fact that we are at this point, is a relief. I have doubts, but yet stay positive with identifying the gene. We know that it may not come back identified, and have to pursue other avenues of testing. Which is fine. The fact that, as I type, our blood work is being worked on… is a relief in itself. We’ve been waiting for this, since Gavin was 4 months old, and diagnosed unofficially. I sigh an ever greater sense of relief, because I know if and when the Dr. identifies anything, he will call me. He keeps us updated; returns phone calls/emails immediately, if not, within an hour. Thank you Dr. Chiang!

I will update as soon as we hear something. Thank you for your continued good thoughts with this. It has been a struggle. I know this can be said for many individuals who play the waiting, run around game when it comes to approval, referrals, etc. I am speaking for everyone when I say – Really? Having to deal with it on the other end, when it’s your child, makes it even more grueling.

… and so we wait

Patiently!

We have an update to the results of this testing, if you are interested.

Click HERE

Why does Gavin wear glasses if he is blind?

This is from a NOTE that I posted on Gavin’s Groupies FB page.  I have had numerous questions about this, so thought I would try to explain in detail.  I’m still learning about the eye pressing, from dr’s, other parents, and therapists.  So, this is just from information I have gathered, obviously I am not an expert in this – it’s my observations and learning experiences from raising Gavin!

I get this question a lot, and I know many more would like to ask, but maybe think they are out of place by doing so.  I want to first state, that we are an open book!   We are putting Gavin's story out there for others to learn about Leber's Congenital Amaurosis, and blindness.

If you have a question about Gavin, our Foundation, LCA, or anything related - PLEASE ASK!  Email me, ask on Facebook, or ask me in person.  Those of you who know me, know that I am always willing to load you up on information!

Many individuals with LCA (and other retina degenerative diseases) wear glasses. Some, do not.  Many individuals who have LCA, are not all completely blind. Some are.  I can't speak for everyone, but in Gavin's case, he is totally blind.  In my heart when he was months old, I thought he had some peripheral vision.  That has since deteriorated, or he never did have it.  It's hard to tell with babies & children as they don't have a point of reference of what vision is and what they are supposed to be seeing.  The dr's can give you an idea of what they think, based on what the eye tells them.  The rest is what the parent thinks.

It was a hard day when I finally let it hit me, his peripheral was gone, and possibly his light perception was little to non-existent.  Some days I think he has minimal light perception, other days I thnk he has none.  But I did give up on trying to figure it out, because it can drive you crazy (and it was).

LCA is a degenerative disease, and there is no time table to tell you how degenerative it is in each case.  It is so different from one individual to another.  A lot that is determined upon which gene mutation you have.  In Gavin's case, we are still fighting to have his identified.  As of now Gavin's gene mutation is in the "unknown category".

Ok, back to Gavin's glasses.

• Gavin's glasses are NOT prescription
• They are transition lenses (he can have photophobia)
• The main reason he wears them is to stop the eye pressing/poking/rubbing

Many individuals with LCA press their eyes.  It is thought the more severe the vision impairment, the more of an eye presser you are.  Gavin has been pressing his eyes since he was a few months old.  We were told early on by his dr., to try to get him to NOT press/rub his eyes.  We learned the hard way, and honestly this was a full time job for many, many long months!  He goes through phases where the eye pressing/rubbing and poking is better than others.

When Gavin is getting good vestibular input, his eye pressing is less.  But nonetheless, the phases still occur.  He was in a very difficult phase a few months ago.  He ripped his glasses off every chance he could - hundreds of times a day. Hundreds of times a day is not an exaggeration.  He would poke his eyes to the point where half of his little finger was in his eye socket.  We were left with the effects the next morning, with dark black eyes and sunken in eye sockets.

He is in a good phase right now, and only rips them off a few times a day.  This has left his eyes looking less sunken, and no black eyes!  Yay for good eye-pressing phases.

He presses/pokes his eyes, and it looks painful if you have seen it.  It is thought to actually feel good, and is giving his retina the stimulation it needs, since it's not getting it from vision.  It is feeding the part of the brain the stimulation it is desperately seeking, since the vision is non-existent.  There are many opinions on this, as some others say they "see white lights" when they press their eyes.  I will not know what Gavin's case is, until he is old enough to fully communicate with us.  Even then, he has no point of reference.

So, he will probably always wear glasses!  They are to protect his eyes.  We don't want the cornea to become damaged from eye pressing.  The need to eye press will probably always be present in his life, but as he gets older, he will begin to understand that it can do harm.  Today, he doesn't understand that.

Gavin with his first pair of glasses, the first day he got them. – 6 mos old.

Say it isn’t snow

Taking advantage of a 4 day weekend is always a good thing. 

A long weekend in the snow is a change of scenery for sure!

It was Gavin’s first experience with snow.  That’s the great thing about living where we live… you are a short 40 min drive up the mountains to the snow, or a 40 minute drive to the beach. 

We had the “snow turning to ice snow” when we got there.  Then that night, we got a foot of snow, and had the “snow soft as baby powder, can barely feel it in your hand” snow.”

The boys had a blast, of course snow ball fights and snow wrestling were hits.  Gavin wasn’t too interested.  He felt the snow, and wanted to go back inside to the play with the “dabinets” (cabinets).

Our cabin is surrounded by windows, and it is set deep inside the woods.  You have trees completely surrounding you – it’s so pretty.  I would be lying if I said that waking up to this

 

…didn’t make me weep like a baby.  All those feelings I keep under wraps, always surface when the beauty of nature hits me. 

These are things that I will have to learn to try my very best to explain to Gavin.  He can feel snow, but how can I convey the beauty of the white blanket that covers the mountains?  Waking up and glancing out our bedroom window to a white wonder – made me cry. 

And cry.  And cry. 

Troy walked in, and it’s these moments he doesn’t even have to ask why I’m crying.  He knows, because he feels it.. and I can see his eyes well for the same thing.

Gavin is as happy as can be, he knows no different.  But I ache, cry, and am sad for my son’s inability to visually see the majestic beauty of our world.

I’m so glad we opted out of a Disney weekend, for this.  We spend 3 days every year at Disneyland – since we have season passes, it’s not that expensive.  It’s a little escape for us, and it’s nearby.  We do it in October (not because it’s my favorite month – and am obsessed with Halloween or anything), but I have been hearing it from Landon that we skipped this past October.  I’m glad they were all in for a snow trip instead.

It was, as always, a happy-yet-bittersweet-weekend all in one.  These moments come and go, all day.  It’s never not on my mind, but I don’t allow it to occupy all my thoughts.  We have so many reasons to be so grateful for our children, life and Gavin’s ability to feel our love.

But I would be lying, if I did not tell you that my sadness for Gavin is ever present is our lives.  The darkness he lives in, day and night.  The snow, the sunsets, the trees and the ocean are all reminders. 

And again, I find peace in the quote:

“The best and most beautiful things in the world cannot be seen or even touched. They must be felt with the heart.”

And we move forward….with our hearts full of love, because there is so much to be grateful for.

Like Gavin “honking” his dads nose when he holds him.

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!