We are just back from our week stay in Boston.  We attended the bi-annual conference for the Foundation Retinal Research (FRR), it’s a great way to connect with other LCA families from around the world, as well as all the researchers who have dedicated their lives to treating retinal diseases.

Many of you have been with us from the very beginning.  You have seen our transformation from getting our diagnosis of no cure for a blindness that we had never even heard of before, to acceptance, and ultimately embracing our lives with our beautiful son who is blind.  We are raising both our sons to be independent, successful, and gracious, loving young men. You do not have to have vision for this to be accomplished!  We have immersed ourselves into giving both our boys the best life they could have, and the right resources and tools to accomplish what their hearts desire.

The first conference we attended in 2010 all we knew was Gavin had LCA.  He did not have any of the known gene mutations that caused LCA. We had started our non-profit, because we saw the good work that was being done with the RPE65 gene, and we wanted to raise money for Gavin’s gene mutation, and the research that is needed.  We started before we knew what direction we were going!

The second conference we attended in 2012, Gavin’s gene mutation was found. The NMNAT1 gene mutation, the 18th known gene to cause LCA was published, and we were able to actively pursue researchers in the LCA field to help.  This conference, the NMNAT1 gene was announced, and we began to speak to researchers.

10532760_10154428217135501_4268763198793440862_n Gavin and Dr. Pierce, our researcher.

 

This past conference 2014, our gene mutation was discussed!  It was part of the presentation, and an update was given.  As I sat in the audience, I felt as though I was dreaming, because this had been our goal for so long, and it’s finally happening.  Our research is happening, thanks to our fundraising!   Sitting in the audience, with my husband by my side, and surrounded by our board members, hearing how one RPE65 teenager had just received his drivers license, was a moment I honestly never thought I would hear!  Dr. Jean Bennett, who is one of the LCA pioneers in research shared many other firsts from the children who have had gene replacement therapy.  But the drivers license takes the cake of all cakes! I never, never imagined this would be a possibility for one of our LCA families.

Gene therapy with the RPE65 gene, has successfully been working.  Our mission is to have the NMNAT1 gene mutation in a clinical trial.  This will happen, just a matter of when.  The when is coming faster.  I think faster than I had anticipated.  Just two years ago, we had no idea when or if Gavin’s gene mutation would be discovered.  Fast forward to today, and we are in pre-clinical gene therapy phase!  Does this exactly mean Gavin will be treated, or that it will work?  We don’t know, but we know we are on the right path, and his existing photoreceptor cells he does have, can potentially be brought to a functioning state from gene therapy.  He has a spot on his macula that is the problem.  This is where his atrophied area is. So, even though gene therapy may help the outside of this part, gene therapy will not bring back cells that are non-existent.  We may need a combination of therapies for this to happen.  But the fact we have come this far, so quickly, is miraculous to me!  Outside of the very small area that is the problem, the rest of his eye is perfect.  Looks healthy, and vibrant.

PicMonkey Collage Touring research lab

 

We are funding the NMNAT1 Project research for Sight at Schepens Eye Research Institute, Mass Eye and Ear, a Harvard med school affiliate, with collaboration with FRR – under the direction of Dr. Eric Pierce and Dr. Luk Vandenburghe.  The fundraising you all are a part of, is making this possible!  We need to gear up and step up our fundraising game, because when we are ready for Phase 1 clinical trial, that’s when we will need 2-3 million dollars to fund.  We also want to keep our options open for other treatments, but of course, that depends on our funds.  We are up against time, as LCA is a degenerative disease.  Over time, the area affected will slowly become worse, which means for those who were born with some remaining vision, will continue to lose it.

We were able to bring our board members to tour this lab, and meet the miracle team that is making it all possible.  There are 12 researchers from all over the world working on the NMNAT1 research.  We talked with them, as they worked away.  It was such an aha moment I think for our board members, and for Troy and myself, because we saw what our hard work is going.  It was just as inspiring for the researchers, because they met Gavin, and some of the other NMNAT1 families, and they were able to put a face behind their work!  They thanked us because their daily tasks take place in the lab, within the four walls, and the human aspect is sometimes removed.  They met the lives of the people that can potentially change because of their work!

Lastly, we were able to spend time with our LCA family.  Gavin got to spend time at Perkins School for the Blind with other LCA children, and Landon got to play with other LCA siblings who are sighted, and some who are not!  No questions asked, no questions from other children asking about why his brother is blind.  They all just get it, because that is their life too!  We met new families, and we felt back at home with our LCA community.  It’s definitely a time that I treasure, for all of us.

IMG_1963 Gavin in front of our research lab

 

We march forward, with renewed sense of hope for all our LCA families, and for those who choose to pursue treatment.  Specifically our NMNAT1 family, in which there are only about 250 people in the United States, and 4,000 people worldwide.  We are getting so close!  Even for us personally, since Gavin’s onset of blindness was so severe at birth, and has minimal light perception, just bringing forth indoor light perception, shadows or allowing him to see where the grass meets the sidewalk, would be huge for us!  Until then, our lives move forward, and hope in our hearts.  We live each day loving the life we were given, but also with the hope to have the option for our son.  Thank you all who have been with us, I feel like we continually thank you guys, but every milestone is so huge!  And the only way we have is done it is with your help.

In a nutshell:  WE ARE DOING IT!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!!

Keep up with us on Facebook, Instagram and Twitter (@gavinsgroupies)!

 

 

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This morning was business as usual Monday.  Typical, busy, nothing out of the ordinary.  Both boys attend different schools, at different times, and today was no different doing our usual routine.  On the way to Gavin’s school, we were chatting, again like normal.  He was snacking on some crackers, singing to the songs on the radio, not letting me change the commercials that come on (he loves the jingles to the commercials sometimes more than he likes songs on the radio – haha).  We pulled up to the parking lot, and grabbed his cane, back pack, and we begin making our way across the parking lot to the school gate.  Our normal 2 minute walk to class seemed typical, something we do everyday.  But much to my surprise today was different.  Gavin paused in his steps, turned towards me and out came the words:

“Mom.  Mom.  I want to be alive.  I don’t want to be blind.”

GULP.

The next few seconds I tried to figure out what to say, quickly… I didn’t want to lose this moment, yet I wanted to address it as best as possible.  Mind you, we were at his school with kids and parent whizzing by. These comments and questions come without any warning WHATSOEVER!  This time was different, he said it in a very small, weak voice.  In the past he has asked questions, and he’s been smiling, or very matter of fact.

I wouldn’t say he was sad, but the wheels were definitely turning.

This age 5 has been our transition year, for sure.  Many questions about blindness, but more directed to realizing his eye sight doesn’t work the ways ours does, so he does things differently.  But without saying.  Does that make sense?  We have always said we would address the questions as they come, and open the way for the discussion for him, in a way he can realize it.  I still don’t think he grasps how eyesight works, and what it exactly does.  But he knows that I know what people are doing on TV, when he doesn’t.  He knows that I see Landon across the soccer field without hearing him.  He knows we have other cues to understanding our world, rather than his cues based on just touch and smell, and hearing.

I am sharing this because, I am so thankful, grateful and eternally changed because we have found the Academy of Music for the Blind.  Our family, and what feels like home.  I say this, because this is the first thing that came to my mind when he said “I don’t want to be blind” this morning.  I began naming his closest friends at the Academy, so he can draw a familiar bond, that we often talk about.  He began to smile.  I began to smile.  And then he asked me if I was crying.  Of course I was, he can hear the cracks in my voice, but I was so grateful for this moment, and for his music school, and for the peace that I felt explaining to my little boy that it is ok to be blind.  He attends a pre-school, where he is the only blind child in class.  He is in a family, where he is the only person who is blind.  But he attends a music school, where all the students, and even some teachers are blind, and I am so happy for him to have this resource not just for music instruction, but for helping my son know that it is ok.

It is so important to have a resource of a blind community around you if you have a child with a vision impairment.  Even if it’s just one or two friends that your child knows on a personal level.  I felt this helped Gavin in this moment to not feel as alienated, when I began mentioning his friends.  If you don’t have an immediate outlet near your home, get involved with the online communities, and have your child Skype or talk to other children who are blind, even if they’re across the country.  It will also open discussions in your home.  Call us!  We will be your resource.

This will of course lead to further discussions with Gavin, and I’m so proud of him.  So proud to be on this road with him, even at these sad moments (for me as a mom).  I don’t want him to feel bad about blindness, and we don’t do anything to make him feel this way in our home.  But I know as he gets older, and he ventures into the world without mom or dad by his side, he will get those questions from children/adults that may make him feel sad about being different than his peers.  Our job at home is to establish that foundation, and speak about blindness in a positive manner, so that he knows how to conquer those questions without feeling sad or bad about being blind.

Thank you to our friends and family, for understanding and helping us raise Gavin this way.

Thank you to AMB for being the support I didn’t think I needed.  I have a special place in my heart for everyone involved in this organization.  Especially for David and Gayle Pinto who founded AMB because they wanted a music school specifically for children who are blind.  What a change in our life you have been, and exactly what we needed, when we didn’t even know it.

Gavin with quote

* Just so we’re clear, the words in the quote with the picture is the way I feel about both of my boys.  They both have a special purpose, and are both one of a kind. ;}

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Spring is in full swing, and we are jam-packed with our upcoming fundraisers and events!  They will all be on our website shortly, but wanted to post a run down for those interested:

1.  Spring Fling Indulgence Faire at Victoria Gardens THIS Saturday from 12-6pm in the Cultural Center.  Come do some great shopping and support our foundation.

2.  Orange County VisionWalk at Anaheim Stadium on Sunday June 15th at 9am.  Come walk with Gavin’s Groupies as we walk for a cure for all retinal diseases!

3. 4th of July fireworks booth in the City of Chino. Once again, we will have a fireworks booth, and all proceeds benefit our foundation.

4. Lake Arrowhead Classic Car and Motorcycle Show in Lake Arrowhead on Saturday July 26th.  Register your car, or just come on down and take a stroll through the village and check out the vehicles.  There’s food, vendors, beautiful backdrop of the lake, and all proceeds benefit our foundation.

5. 5th Annual Gavin’s Golf Classic – September 26 2014.  Grab your foursome, and join us for a fun day of golf.  We are also selling sponsorships, a great opportunity for your business.

6. Helicopter Ball Drop at Gavin’s Golf Classic – Purchase your tickets for a chance to win $3,000!  Each golf ball is $10, and you don’t have to be a part of the golf tournament, or be present to win.

7. Night without Light dinner fundraiser.  TBD, and details to follow.

I’m sure we will have additional fundraisers to add, but this is what is coming up for the year, so mark your calendars!

** We are also putting together our committee for our largest fundraiser of the year – the golf tournament.  If you’re interested in helping, or selling golf ball tickets, please email jen@gavinsfoundation.org.

As always, thank you for your support as we raise funds for LCA-NMNAT1 Project Research for Sight.

 

 

 

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A Night out for Music

March 18, 2014

As many of you may know, Gavin attends the Academy of Music for the Blind, in Los Angeles.  He is the youngest student, and we are so blessed to have him be a part of the extraordinary music education!  All the students are visually impaired/blind and some of the teachers are also blind. Gavin’s music [...]

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My love, respect and accept letter…(with a mom’s point of view)

March 11, 2014

I wrote the below Facebook post a month or so ago.  It had over 15,000 views, and so I thought I would share it here on my blog as well. It was 5 years ago this month, we saw our first specialist. It was then the doctor slumped back in his chair, after examining our [...]

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BUNCO is Baaaack!

March 10, 2014

Join us THIS Friday for a night of fun!  Bunco is always a blast… we will have food, drinks, 50/50 and raffle prizes.  It’s a great date night, and a way to help us raise awareness and funds for our research.  Never played Bunco before?  It’s not just for girls, in fact we have just [...]

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“Mom, am I blind people?”

January 11, 2014

I got asked the question tonight, I have been wondering how to answer for the past 5 years. I’m finishing up making dinner, call Gavin to the table, and I hear in his little innocent voice, as his little bare feet pitter patter closer to me. “Mom? Am I blind people?” * heart sinks * [...]

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Braille Christmas Ornaments

October 29, 2013

You can order here Truly unique Christmas ornaments can be hard to find, but what about an ornament with personal meaning and helps raise money to fund research to cure LCA – NMNAT1. We love making these each year. I started when Gavin was a baby for family and friends. The first Christmas with Gavin, [...]

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Night without Light dinner

October 17, 2013

  One of our most treasured fundraisers for the Gavin R Stevens Foundation is coming up on November 9th.  You can purchase your tickets online.  Come spend an evening with us, and take a walk in Gavin’s world as you eat dinner in complete darkness.  We will have raffle prizes, music, drinks and dinner in [...]

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October Blindness Awareness Month

October 6, 2013

October is Blindness Awareness Month – we have an official month, yay! It seems like everyday is Blindness Awareness Day for us at the Stevens household.  But it makes me super excited to know it is recognized in the month of October. During this month, I wanted to share a little about blindness, LCA and Gavin. [...]

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