Happy 7th Birthday Landon!

This little boy made me a mom, 7 years ago.

It was on that day, and the days following, I realized my purpose.

My kids are the highlight of my life.  Yes, days I am frazzled – Gavin requires a lot of time at this age, and Landon has his hands full with activities.  I try my best everyday to build them a life they will remember, when we are no longer here. 

Landon is kind, he is hilarious, and he is smart.  He has a heart of gold, and would help anyone at the drop of a hat.  His feelings get hurt, when he sees someone else’s feelings hurt.  I love my Landon Troy!  He loves Star Wars, he loves his family, and he has patience of a saint for his brother, Gavin!

I am so blessed to call him my son,

and am so happy to have the past 7 years with my little boy!

Happy Birthday Landon!  I love you more than you can possibly ever imagine.

Personal Shopper for Hire

 

Personal Shopper for Hire

Will work for

A never ending bowl of pasta with light butter and parmesan cheese,

Apple juice that is not watered down

and

Your iTunes playlist downloaded onto my iPod

Disclaimer:

Not responsible for dairy or frozen items being perished by the time I am done with your shopping.   Nor am I responsible for my personal quality control being done on cereal products, fruit, and Honey flavored Teddy Grahams.  I must avoid aisle #8 (non kid friendly products), and there is no guarantee I even make it out of aisle #12 (candy aisle). 

Actually the only real guarantee is that I have fun pushing the cart around the grocery store for 1.5 hours.

You may not even get your shopping list back, let alone your groceries.

Any takers?

My tribute to Dr. Nancy Mansfield

I met Dr. Mansfield, about a week after we had our first appointment at Children’s Hospital LA.  Dr. Lee (Gavin’s pediatric retina specialist), suggested we go and meet with her.  When a devastating diagnosis is given to one of his patients, regarding their child’s vision, he refers them to Dr. Mansfield. 

I wrote this on February 26, 2009, in a blog post:

In addition, Dr. Lee also put us in touch with a child psychologist. This particular psychologist, Dr. Nancy Mansfield, concentrates on families whose children will be affected with vision loss. She works in conjunction with CHLA Vision Center. You can read about her here. We will be meeting with her in 2 weeks. She and I had a session over the phone. At the end of our conversation, she said she was 'anxious to meet me' as I sounded "too good". Hmmm, I don't think that is a good thing. She caught me at a good time, and not in one of my moments, so maybe I gave her a false Pollyannish version of myself. I am optimistic, but I am also deeply saddened at the same time, I'm sure she will probe deeper. I am looking forward to it actually. She sounds like an excellent advocate for us, as well as had a wealth of information. What I took away from the conversation was, to not overlook your instincts - more importantly your parental instincts. We do have them for a reason, and don't try to justify them. They are there, and should be there, and we need to listen.

Troy and I decided to visit with her.  We were struggling with our emotions, and trying to learn how to deal with the news of Gavin.  We figured, how could it hurt?  We were lost, and any kind of support, in the form of a child psychologist could only help us.

We were fortunate enough to meet with Dr. Mansfield on a few occasions.  I walked in her office with a smile, and she instantly handed me a box of Kleenex.  She saw through the fake grin.  We sat, we talked, she listened.  She even had us bring Landon in on a visit, and she talked with him for a while, and they “played” while she analyzed.  I think Landon early on, didn’t understand, and he had concerns for his baby brother.  I think all the doctor trips to the big hospital freaked him out.  Seeing his mommy and daddy so sad, made him sad.  She gave us tips on how to get him to feel less stressed.  It worked like a charm.

I was so deeply saddened to hear Dr. Mansfield had passed away.  We found out a few weeks ago, when we had our blood drawn for our genetic testing, and I am still thinking about it.  She was such a gift to us.  Talking with my other LCA families close by, I learned she was to them as well.  My friend (who has two children with LCA), and I talked on Tuesday about it, and shared what she taught us both.  I can only imagine the loss the Vision Center at Children’s Hospital is feeling.

Please read about Nancy, and her accomplishments, and what she did for so many.

I want to share the most important things I learned from Dr. Mansfield

1.  Gavin’s eye disease is relative to us and our family

I remember sitting down with her, crying buckets, and she asked me why I was so emotional that day.  I told her I did not feel worthy of feeling sad.  I walk the hallways of Children’s Hospital, and see so many sick kids. That particular day I saw so many cancer patients, it made my stomach hurt.  I wonder why I am so upset because my son is not sick.  He is healthy.  I shouldn’t cry for my son, I should be crying for these children who may not see tomorrow.  It was such an inner struggle. 

She stopped me mid sentence, grabbed my hands and said “Gavin’s disease is relative to you and your family.  There will always be someone who is sick, the stories will always be tragic, and they make us sad.  That does not mean you do not have a right to feel the sadness you do for your own child, who cannot see light.  Gavin is relative to you.  Love your son, you can be very sad for your son, but also mourn thoroughly for your son’s vision.  It is important to mourn, to be able to move forward.  He is not sick, but that doesn’t make it any less sad.”

Those words made a difference!

I hear Nancy often, in my head.   Her encouraging words invade my mind, when I see others and what they are struggling with.  All any of us knows is our struggle, and how it is relative to us.  REGARDLESS of how minute or devastating it may seem on the outside.  It can be a mom’s worry over her child’s very poor vision, who will need glasses for the rest of their life.  In my mind I could be thinking “I would love that to be Gavin!”  But to this mom, it may be very heartbreaking.  Her child’s poor vision is relative to her.  As it should!

I see far too often people comparing sadness. 

“Johnny” was born deaf and blind, so you should be glad Gavin is just blind.  Yes, I have heard this before.  About a week after we found out about Gavin.  Does that remove the element of sadness for Gavin?  Absolutely not.  So, does that statement mean I should be GLAD for Gavin that he is just blind?  I have learned a lot about comparing sadness.  I have learned everyone has their place for their own sadness, regardless of what it is!  And it should be respected and not compared.

Thank you Nancy, for your words of wisdom and your brutal honesty.  You had an ability to teach me how to compartmentalize my sadness, so it doesn’t spill over to everything else, as it so easily could have! 

I am very grateful to have met you, and had you in our lives.  Troy and I, and our whole family, is certainly at our good place where we are right now, because of you!

Rest peacefully.

Gavin's favorite toys

I have had half this post written for months now (mom of the year, I tell ya).  It was inspired because I have recieved some emails regarding the types of  toys that Gavin enjoys.  Most have been from other parents who have a blind/VI child, others are from teachers, or family.  I decided to share some of Gavin's favorites that he has shown interest in.  We are constantly rotating toys.  Upstairs toys, downstairs toys, car toys.  Car toys are VERY important especially for a little eye presser!  You have to keep those hands occupied.  I have brailled most of them, the ones I haven't yet - I just haven't been able to ... yet.  So I keep the ability to braille the toys on my mind when choosing a toy for Gavin

The toys below made the top list. 
[These are not specifically for a blind/VI child.]

The first set below, are great "car toys".  We travel to Gavin's therapy, and it's a 2 hour round trip every week.  We sit in the car line at school to pick up Landon (45 minutes early) everyday.  A "car toy bag" is a necessity for Gavin, and these are a few that keep him occupied.  (Along with the Goldfish and Juice cup) that are a staple in the car.  All are brailled (by me - they did not come brailled).  All are perfect size for his lap in a car seat.  The top two, were great when he was smaller (bigger buttons). 

(yeah ignore the spacing, I know the pictures are not even)





The next row of toys, are ones he plays with either standing up, or on the floor.  Little big bigger than the car toys.  The "piano" is his favorite.  He loves piano, he loves his keyboard, and he loves his meow piano.  It has more buttons than just the keys, and he has mastered every single one.  It's quite fascinating to watch his little fingers trail over the toy to find the exact button he wants.









(here too, I'm too tired)















(it is annoying, I know... but it's not cooperating)










This alphabet train from Vtech is awesome!  All the blocks have a different letter of the alphabet, there is a hole to drop the blocks in with music (as a reward for doing so).  There is a book on the side of the train, and the pages of course turn.  It's a book of the alphabet.  You can store the blocks under the seat of the train, and the train also has a seat you can sit on.  Getting "on" and "off" of anything is HUGE for Gavin, especially giving him the confidence he can do it himself.  This is a perfect height, not too far off the ground.

It's a great toy with many learning aspects!  Our big hurdle is getting him to play with his braille books more often.  He is turning the pages on the book of the alphabet train, and it's great becase it's in the form of play and not direct instruction.




Gavin's favorite place in the house is the kitchen.  Of course!  With drawers that make noise, and annoying mom with pulling everything out of the drawers, how can you not?  When he was younger, our biggest struggle was getting him to play with toys in an upright, standing position.  This magnetic word builder is PERFECT!  He can play in the kitchen, he needed to be upright to play this fun toy.  We have about 4 of these on our refrigerator, but this is his favorite.

He also like the magnetic braille magnet letters.  I can't find that on Amazon, but will update when I do.







This jungle activity center was great when he was right around 1 year of age.  It was a perfect height, and he actually started his first time "cruising" around this toy, and the couch.  It is sturdy, it provided stability, and it was enticing.  You can drop the ball at the top, the monkey plays different music, and you can "hide" the balls in the hippos belly and elephant's nose.  Now, at over 2 years old, he still asks to play with the "monkey" as he calls it.  His fun he gets out of it now, is quickly putting all our ping pong balls at the top, and finding which side it has come out of (there are two exits).  Provides directional instruction (on top of, to the right, left of the monkey, etc).





Moving to the very important Vestibular Stimulation. This indoor or outdoor trampoline is great!  We usually keep it indoors, but we can move it outside pretty easily.  Gavin can jump for hours, and there is also music on the handlebars.  It feeds the vestibular stimulation that his body desperately needs.  It's not too big, and is perfect height just for him.  He reaches the handlebars great.  It is also teaching to get him "on" and "off" of things, while he jumps "up" and "down" usually while singing "Five Little Monkeys". 

It introduces a lot of directional listening skills, and engages him for hours!




Ok, I am saving his ABSOLUTE FAVORITE TOY for last!  You would think this toy was paying him to advertise it.  My word.  Where do I start?  He first found this toy at Blind Children's Learning Center.  He was intrigued at the first spin!  BUT, he just wanted to spin it with his hands.  It's made to sit and spin around, kind of like a sit and spin, but without the middle part.  It's completely flat, hence the name "disc".

Gavin calls it the "round and round".  On therapy days at BCLC,  before we get in the car, he asks for the "round and round", because he knows we will be playing with the sacred spinning toy very soon.

He now has advanced to actually getting on and off the "round and round".  This will be a toy to have as he gets older too.  Gavin likes to spin in circles, as many blind children do.  It's more socially acceptable to spin around on a toy that actually is meant for that.  I can envision Gavin being 4 years old, on his belly, and spinning on it till there is smoke.

These toys are in addition to his blocks, and all of the unanimated/non-music toys.  We are working with pegs, pegboards, pull apart toys, etc. to also work on fine motor and hand strength that will help with his cane grasp.  Many things that we are making strides in, is mostly done in a non-direct instruction manner!

Thank you toys!

New meaning

In a world where we are bombarded with messages about physical attractiveness, and chasing the latest trend, I have found some insight about superficial qualities that many base their entire self worth on.  Through the quest for outer beauty, that everyone tries to achieve, Gavin has really changed my value on the way I perceive others . 

We are so consumed, over analyzed and constantly trying to change.  

We need to critique each other and ourselves over our physical traits. 

We put each other down, or build each other up, based solely on these physical characteristics that are either judged as being aesthetically pleasing, or harshly unappealing.

 

Judgment is passed, opinions are formed.

 

We can be laughed at from afar, or admired close up.

 

All based on our natural, or altered beauty.

 

My favorite people are the ones whose hearts are genuine, spirit is kind, and demeanor is honest.

 

My favorite people come in all colors, shapes, size and type.

 

“Beauty is not in the face; beauty is a light in the heart”

 

Thank you Gavin, for giving me a much better insight of the true meaning of genuine beauty and admirable qualities outside of the physical realm.

 

Here are some other “new meanings” that have changed for me, since he has been born.  From the sound of music, to the sound of rain drops.  From the sunsets at a distance, or the compassion from others I feel close, deep in my heart.

 

I have changed. 

 

All for the better.

 

Here are a few more at the top of my list.

 

 

Music

The sound of music is Gavin’s world.

Braille

Braille will be Gavin’s way of reading the world.

Sound of rain

Gavin dances to the sound of raindrops.

Sunsets

I hope Gavin can see the fascinating beauty in a sunset one day.

Glasses

Glasses always meant to me, a way to see better.  Gavin wears glasses, and he doesn’t see better with them, but they are a huge part of his life.

Service Dogs

A guide dog will be Gavin’s companion one day. 

White Cane

A cane will help Gavin’s accessibility, and a way to help him with independence.

Rainbows

Same as a sunset.  The beauty is remarkable.  He is learning colors!

Compassion

I have never felt more compassion in my life, than I have the past 2 years.  It has taught me to be a better person.

“Let the beauty we love, become the good we do”

 

In our society, we all want to look better so we feel better. 

I wish the message would focus on doing better to feel better.

 

I’m all about making the best of what you have, and who you are.  I enjoy trying to look my best, and feeling good.  I just see too often how quickly judgment is passed.  There are so many beautiful people in this world.

 

If only we would look deeper.

 

Gavin doesn’t see the physical beings, he sees the soul. 

 

  Thank you Gavin for helping me see the true beauty in people, as only you will.

 

Sometimes our children are our best teachers!

Vestibular Stimulation (reprinted article on NFB.org)

I was happy to have this blog post that I wrote, reprinted on two websites and as an article in a magazine and in Future Reflections on NFB.org.

Vestibular stimulation was a constant (and still is somewhat) struggle for Gavin.  Trying to get him enough vestibular stimulation, and doing in the form of play was always tricky.  I wrote my ideas in a blog post, to hopefully help others.  Here is the article on NFB’s website.  I’m hoping to get it soon on the Future Reflections mailing as well.

These always worked for us.  It was at a time when Gavin wasn’t moving much.  So it’s great for right around 1 year age range.  Hope it helps you if you are looking for some resources.  Make it fun for your child, with lots of positive reinforcement! 

http://www.nfb.org/images/nfb/Publications/fr/fr30/1/fr300103.htm

Thank you NFB, Future Reflections, and Wonderbaby.org for also reprinting and sharing this information!

This is the original post on my blog from last year.

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.

Lil’ bit o’ Irish..

Threatened to pinch to get this smile!

Sunsets

Appreciate each other, like we appreciate a Sunset.  I have never seen a sunset, and wish there was more orange, more rays or more purple.  It is what it is.  Kind of makes you want to appreciate each other this way.  I heard this somewhere before, and it has always stuck with me.

We are who we are.  Through all of our activism to raise awareness, I am also happy to say I fully appreciate my son, just the way he is.  That doesn’t mean I don’t wish there was an option regarding his vision.  Nevertheless… these Sunsets are for Gavin.

They are taken by others (friends and family) for Gavin.

I treasure each one!  If you would like to share a Sunset, please email me.  I have an album on Facebook as well, where you can see descriptions of each picture.

The sunrise is Gods greeting - the sunset, his signature – Unknown

Peace... is seeing a sunset, and knowing who to thank.  - Unknown

Every time you wake up and ask yourself, What good things am I going to do today?, remember that when the sun goes down at sunset, it will take a part of your life with it. – Proverb

When I admire the wonder of a sunset or the beauty of the moon, my soul expands in worship of the Creator”

 

Even the most beautiful days eventually have their sunsets. – Unknown

 

 

 

 

 

All Children, Should be able to see a Sunset…

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

What is Leber’s Congenital Amaurosis (LCA)?

Thank you to the Foundation Fighting Blindness, for providing a great explanation of LCA.  More information is on their website.  Gavin was diagnosed at about 4 months of age with LCA.

What is Leber Congenital Amarosis?

Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision at birth.  A variety of other eye-related abnormalities including roving eye movements, deep-set eyes, and sensitivity to bright light also occur with this disease.  Some patients with LCA also experience central nervous system abnormalities.

What are the symptoms?

Individuals with LCA have very reduced vision at birth.  Within an infant’s first few months of life, parents usually notice a lack of visual responsiveness and unusual roving eye movements, known as nystagmus.  Eye examinations of infants with LCA reveal normal appearing retinas.  However, electroretinography (ERG) tests, which measure visual function, detect little if any activity in the retina.  A low level of retinal activity, measured by ERG, indicates very little visual function.  ERG tests are key to establishing a diagnosis of LCA.

By early adolescence, various changes in the retinas of patients with LCA become readily apparent.  Blood vessels often become narrow and constricted.  A variety of pigmentary (color) changes can also occur in the retinal pigment epithelium (RPE), the supportive tissue underlying the retina.  Sometimes, pigmentary changes are similar to another retinal degenerative disease known as retinitis pigmentosa.

Although the appearance of the retina undergoes marked changes with age, vision usually remains fairly stable through young adult life.  Long term visual prognosis remains to be defined.  Visual acuity in patients with LCA is usually limited to the level of counting fingers or detecting hand motions or bright lights.  Some patients are also extremely sensitive to light (photophobia).  Patients with remaining vision are often extremely farsighted.

Many children with LCA habitually press on their eyes with their fists or fingers.  This habitual pressing on the eyes is known clinically as oculo-digital reflex.  The eyes of individuals with LCA also usually appear sunken or deep set.  Keratoconus (cone shape to the front of the eye) and cataracts (clouding of the lens, the clear, glass-like structure through which light passes) have also been reported with this disease.

In some cases, LCA is associated with central nervous system complications such as developmental delay, epilepsy, and motor skill impairment.  Because LCA is relatively rare, the frequency of central nervous system complications is unknown.

Is it an inherited disease?

LCA is most typically passed through families by the autosomal recessive pattern of inheritance.  In this type of inheritance, both parents, called carriers, have one gene for the disease paired with one normal gene.  Each of their children has a 25 percent chance (or 1 chance in 4) of inheriting the two LCA genes (one from each parent) needed to cause the disorder.  Carriers are unaffected because they have only one copy of the gene.  At this time, it is impossible to determine who is a carrier for LCA until after the birth of an affected child.

Are there any other related diseases?

Initially, LCA can be confused with early onset retinitis pigmentosa (RP), congenital and hereditary optic atrophy, cortical blindness, congenital stationary night blindness, flecked retina syndrome, and achromatopsia.  Although similarly named, LCA should not be confused with Leber optic atrophy.  In addition, there are syndromes seen in infancy where visual impairment is a component.  A thorough ophthalmologic examination including diagnostic tests measuring retinal function and an accurate documentation of family history can distinguish between these related conditions.

What treatment is available?

Scientists have identified 14 genes with mutations that can each cause LCA.  These genes account for approximately 75 percent of all cases of LCA. With this information, scientists are better equipped to develop preventions and treatments.

Clinical trials of gene replacement therapy for LCA caused by mutations in the RPE65 are now beginning. It is the same therapy that gave vision to 50 dogs, including the world-famous Lancelot, born blind from LCA. These studies provide extraordinary promise for eradicating LCA caused by RPE65, and eventually, LCA caused by other genetic variations.

Some individuals with LCA, who have remaining vision, may also benefit from the use of low-vision aids, including electronic, computer-based and optical aids.  Orientation and mobility training, adaptive training skills, job placement, and income assistance are available through community resources.

That’s how I roll

Dad’s iPhone (with my own playlist that is getting really old).

Juice (mom thinks I don’t know she still gives me mostly water.  Hmpfh)

Bagel with light butter (in little pieces so I take longer to eat.  Hmpfh)

They think I have not caught up with their tricks.

I will show them when I don’t take a nap when I get home.

Love,

Gavin (AKA The Hulk)

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.

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.