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

BCLC Series - Climbing up the stairs

Sorry for the lack of updated videos from Blind Children’s Learning Center.  I am trying to post what I can, and actually have a few half-written posts that have not been published yet.  Those will be up soon.  I do appreciate how these videos are helping others out there – I promise to return the emails!  The whole purpose of this blog, when I started it, was to share Gavin’s story, but also help others learning about our unique story.  I’m glad to be able to not just help one person, but many!

We are continuing to work with Gavin on getting him confident moving in space.  This is a general feat, but it is something that will link over into everything he does.  If he feel comfortable and confident, taking on new tasks or entering an unfamiliar area will allow him to feel better about himself when he explores.

We are also continuing to work on object permanence with him.  I truly think he gets it, but some times I wonder.  He doesn’t tend to go after things.  Yes, we totally understand this may be due to the blindness, but even in eating situations, I am still seeing that he is lacking in this area.  A good area where we are working with this, is him playing catch with his brother with a basketball.  I have to tell Landon to let him find it… and some times he does.  It’s a fun interaction game between the boys, and it’s teaching Gavin at the same time.

Back to climbing up the stairs.  We have stairs at home.  The majority of our living is downstairs.  Upstairs are the 3 bedrooms and the 2 bathrooms.  Every chance we get, when we go upstairs, I try to not just scoop up Gavin and carry him (which is sometimes much easier).  We are trying to get him to walk up the stairs by holding one hand on to mine, and the other he trails the wall.  He does it 50% of the time.  We are not quite to the point of where he crawls up the stairs.  He has zero interest.  He actually will stand at the bottom of the stairs and say “I want to go up the stairs”.  He will wait until someone comes and guides him.

At therapy the other day, we worked on the stairs, and he did it.  There was some hesitation, and at the top of the stairs was a toy – so he was enticed.  But nonetheless, he DID IT!  I love these moments of challenging times for him, and a sense of accomplishment he must feel when he is pushed out of his comfort zone, but yet, crosses a hurdle!  He did it all by himself.  I’m a proud momma.

Gavin crawling up the stairs at Blind Children’s Learning Center

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.

BCLC Series–Peg dropping and pre cane

Today at Blind Children’s Learning Center, Gavin worked with pegs.  He did very great with transferring the pegs from one hand to the other, and then drop them into the drum.  (We use the drum, because it makes a distinct sound when something is dropped into it).  He picked up the peg out of the peg hole with the left hand, transferred the peg to the right hand and then drop into the drum.  His OT moved the drum from the front, to the back, and each time, he did fairly well listening to where the drum was and dropping the peg in.

Ultimately, his OT would like for him to get the peg, and transfer it in one hand (across mid-line) and drop it in the drum.  This technique is crucial to him utilizing his cane appropriately, with the long wide sweeps.

The transfer of one hand to the other, and listening to the where the drum is was a big leap.  He is using both sides of his body to complete a task.  For a child with no vision, using both sides of your body, while trying to accomplish something (as simple to us as dropping a peg into a drum), and keeping yourself upright and straight and balanced is quite a feat.  We use our eyes to stabilize our body, to keep us in balance.  Remove the vision, and you need your entire vestibular system to work together to keep this balance in tact.

Gavin dropping Pegs into a drum. Using balance, hearing, and hand transfer to accomplish.

The other part of his therapy today, was getting his tiny little hands ready for the cane.  He has his cane now.  His O&M brought it during our last visit, last week.  He is not ready to use it, but we are getting ready for that.  We have it hanging by the back door, so he knows, when we leave, the cane comes with us.  We are moving closer to having him find and pick up his cane on his own, when we leave somewhere, but still working on it.  Everywhere we go now, the cane comes with us.  Usually I’m the “cane holder”.  He really wants nothing to do with it, but as expected.

I talked on a previous post about “Pre Cane skills”.  He uses his little shopping cart at home.  At therapy, there is a different type of push cart they use for all the pre cane kiddos.  His thumbs still aren’t quite there yet.  It’s hit and miss.  Some days when he pushes the cart, his thumbs are in the right position, other times not.  You wouldn’t think, how much skill a little one needs to utilize a cane correctly – and not with bad habits.

Using a push cart, to help with Pre Cane development.

The other part of using the push cart, is just like the little shopping cart, or any push toy, the cart/toy will hit the wall before he physically does.  The same with the cane.  His cane will always hit something before he does, and so this is the same concept.  Teaching him how to manipulate the push cart, comes with time.  He is very confident behind the cart, and takes big wide steps, because he is understanding that he is safe behind it.  Backing up, and maneuvering it back and forth when necessary – is still something we are working on. 

Put him on a straight shot of cement, and he will plow you over!  He moves with such force, determination and confidence.  It’s great to see, because at this stage, he is very cautious and moves slowly through space when he is in an unfamiliar area.

Have I mentioned how great BCLC and his OT is?  They’re wonderful.  The other parents, and I, call his OT the “blind baby whisperer”.  She helps me to understand so much, and I am so grateful for her and the services they provide.

Gavin’s Pre White Cane skills

Gavin’s 24” white cane is on back order.  We should be getting it in the next few weeks.  Meanwhile, we have been working on skills to get him prepared for the day that he is introduced to it.  It has been a joint effort between his early intervention teacher, his Occupational Therapist and his O&M (Orientation and Mobility instructor).

Getting his little hands ready (strength wise), is key for him to be able to maneuver the cane appropriately, and not just whack his brother over the head.  Building up the thumb opposition strength, is one of the areas we were concentrating on.  Of course, we do this through play.  In the clinic setting with his OT, he loves, and I mean loves jumping on the tire.  It’s great, because he is getting the needed vestibular stimulation (by jumping), but he is also working on hand/finger strength (by tightly gripping the poles).  It is a necessary fine motor skill needed, to be able to sweep the cane from side to side.  Swinging in a swing, and holding the ropes, is also a good way to work on strength.

Another thing we tried is a very small shopping cart.  It’s a mini replica of a real, metal, shopping cart.  The idea behind this is, when he pushes the cart, the cart will bump into a wall, or hit a bump, before he will.  The same thing that his cane will do.  It’s the idea of maneuvering his body behind something.  He also loves the cart.  When we first introduced him to it, he took off!  It’s hard to now keep up with him.  When he bumps into something, he is learning to try to get around it.  He will back up, and try a different direction.  If we are at the park, and the cart goes off the sidewalk, and into the grass, he will try to pull it back, and change direction.  He does get frustrated, as he just wants to charge straight ahead, but he is getting much better.  It’s also a listening lesson for him as well.  He hears the words “stop” “right” “left” “behind” “in front of”, etc.  No, he does not understand them all (especially right/left), but it’s getting him familiar with the words.

Here is a video of him pushing his shopping cart.

This is also another pre cane toy he has, but right now he much rather prefer the basket.  He does play with it, but doesn’t push it around all too much. 

I have a feeling when he does get his cane, he will not want to hold it for too long, or not at all.  That’s just my gut telling me.  He still throws things to the side.  Yes, he is getting much better at placing things in front of him (in a bucket, etc), but newly introduced things, it is still taking him a while to get acclimated.  Of course, I understand this is all going to happen over time, and I am totally ok with that.  We are in no rush, but I am totally on board with introducing the cane early in life.  There are opposing arguments about when a cane should be introduced.  I weigh on the “earlier is better” side for many reasons.

I will do my best to update, and I will also keep the tally over how many times Landon, and the rest of us are whacked!

Kidding.  Maybe.

1 year anniversary - Mud Run and Pledge Program

A small portion of our Gavin's Groupies from Oct '10

From the traffic on this website, we have received many recruits for the Irvine Lake Mud Run from Gavin's blog! As you know, I don't post much of our non-profit on the blog, since we keep everyone informed on our foundation website. I don't want to overkill, especially for those who are not interested.

BUT

Since we are in recruit season for the Irvine Lake Mud Run, I wanted to share this one post in case anyone would like to be part of our pledge program. It's self explanatory, I won't get into too many details... but you can win a $500 VISA gift card! For every $50 you raise, you get an entry for the gift card. EX: If you raise $300, you get 6 entries, etc.

Email me: jen (at) gavinsfoundation (dot)(org). I will mail you a pledge packet, and all the tools you need to raise some pledges for Gavin. You can even do a super easy email campaign, and again I provide you with ALL the tools! All info is here.

** You do NOT NEED TO be a participant of the mud run to get pledges! We have many out of state people getting pledges. You can get cash donations, checks, or even online. **

The total will be tallied at the mud run on April 10. The great people who run the Irvine Lake Mud Run chose Gavin's Groupies who support our foundation as the beneficiary for the entire 2011 year. So, even if you do not want to come and run, just come and join us for a fun filled day! There are food vendors, music, and of course, you can't forget the dirty dodgeball.

All 9,000 + mud runners will be running for Gavin, to find a cure for LCA!

Check out our Gavin's Groupies Facebook page for all the muddy pics from the past 3 runs. April 10 will mark our 1 year anniversary at the mud run. You can also read about Reggie's experience, who was the guide for a "blind" runner.

Food for thought: There are 9,000 + runners for the mud run. What if each runner received a $20 pledge? That's close to $200,000 for research!

Will you be one of the people we need to help us hit this mark? We cannot do it without you!