Occupational Therapy has played a big role in Gavin’s development.  On this day, we worked with the “cocoon swing”.  It allows Gavin to work on proprioception, tactile as well as vestibular input.  It helps him to gain an understanding and receive input of how his body works.  I know I say this a million times, but Gavin needs to receive input throughout his whole body, in order to begin to understand just how one part of him works.

For example, every move he makes in this “cocoon swing” is with resistance.  He was asked to push the outside of the swing, with all his strength.  This allows him to gain an understanding of how long the length of his arm is.  When we extend our arms, we can see the tips of our fingers.  When Gavin extends his arms, he doesn’t really have a full grasp of what is at the end of his fingers (other than open space), and so this helps to give a mental map of the length of his arms, and he gets input all down his fingers from the resistance.  It’s such an interesting concept.

His therapist, Mary, also put the cocoon swing under his arms.  It provided just enough support to allow free movement, which is something you don’t see all the time with blind children.  His face was priceless, as he controlled the movement of his legs as he side-stepped, jumped up and down, and ran from side to side.

He also worked on jumping from a small height, unassisted.  I was able to grab my phone, and capture this moment.  He was so happy when he did it.  His therapist has been working on having Gavin, jump.  Not just up and down, but off of something of a different height – independently.  This is not something a child who is blind, is going to do.  But it is important for him to gain understanding of open space, and his body position, and using both parts of his body in sync.  There is hesitation, but, he did it!  Many blind children do not want to jump without guidance, as there is definite fear of the unknown, and a general fear for safety.  You can see we still need some work on weight shifting, as well as him lifting his foot completely up in the air and stepping it onto the step.  He keeps constant contact with the mat and the step, as he is trying to get his foot up onto the step.

We are going to continue working with stepping on/off curbs, steps as well as jumping down from them.  I will keep you posted as his development continues.

As a side note, I know I have not kept up with this blog like I would like.  It’s always the first thing to slide when life happens.  But, please stay connected with us, as we will have some exciting news to share in the upcoming days/weeks!

Gavin’s “I can do it” video, put us on a fun 3 week press path.  The highlights were being on CNN, and our local news stations, featured on Huffington Post, Good Morning America and the Today Show online sites. With that came over half a million views on YouTube, as well as many comments, and emails that have truly touched our hearts.  We received calls and emails from people all across the world, letting us know they saw Gavin on TV.

With every interview we did, of course they asked about the video, and the background story of it.  But it always led us to LCA, and they always asked about how people can help our mission.  I loved that the most. I am thoroughly touched that our little boy, just by him being, him – has inspired people.  But that same boy is helping us to bring LCA to people who normally would not know about it.

We are especially excited for an upcoming episode of “The Doctor’s“, that will be airing the video clip of Gavin, as well as talk a few minutes about LCA.  A nationally syndicated, Emmy award winning show will be talking about LCA.  We will keep everyone posted, make sure to like our FB page, so you can stay up to date with our upcoming posts.

The most asked questions and comments I have received the past few weeks:

1. Why does Gavin wear glasses if he is blind?  (answer here)

2. Doesn’t the mom know how about VVS?  Now I do. LOL

3. Has Gavin been blind since birth?  Yes

4. This is a fake video, it was staged, Gavin is not blind, and they just want views.  Really? I mean REALLY? ha

5. I’ve never heard of LCA, but I will be more engaging next time I see a blind person.  (melts my heart)

Good or bad, I am so happy this video has sparked conversation about blindness and LCA.  This has been a great fundraising campaign without even trying.  We have received many donations, and the money coming in from views on the video is going towards our fundraising efforts for Gavin R Stevens Foundation.

Thank you all for your support, and emails and wonderful and kind words for Gavin, our family, our charity, and all the other LCA families.    We are so happy for our new supporters, and their expression of love and compassion. You are all contributing to one day filling Gavin’s life with vision.

You have all inspired me!

A video I posted of Gavin on our YouTube channel, was picked up by TV producer, who saw it.  I received an email, we corresponded, and 24 hours later, a news clip of Gavin and the YouTube video along with him singing Bruno Mars, was airing on over 45 markets, nationally!

I then was contacted by the Huffington Post, Yahoo News UK, and many other media outlets.  Good Morning Malibu will also be airing it this morning.

The below link is what was aired on the various networks:

http://www.rightthisminute.com/video/blind-4-year-old-gavin-doesnt-need-help

I’m glad they did it in such a great way, they mentioned the Foundation, and did not put it into a category to feel sorry for him.  It was very well done, and we are so happy with it!  The part when he sings with Bruno Mars is pretty awesome.

Since that aired, it has been shown on Facebok, on “Awesome Video” “Funniest Videos” (which there is nothing funny about it, but I know they pick up videos that have a lot of attention, but whatever).  Taking it with a grain of salt (along with the small handful of rude comments).

On YouTube it’s been seen over 14,000 times, and on Facebook there has been a combined total of 50,000 likes, 5,000 shares and over 3,000 comments.  IN 48 HOURS!

A little background of the video, I always take video of Gavin.  I want him to hear certain things back, and I like to capture firsts.  We had been working on him stepping up and down stairs independently for a few weeks.  He went from holding my hand, to holding my pinkie, to me touching his back, to me (on the vide0), getting pushed away.  I wish I got that on video! lol  He shooed me away a few seconds before, so I stepped back, took the video and uploaded it to YouTube a few days later.  Not thinking anything of it.  I share videos on our YouTube channel to raise awareness of LCA, and to share with other families where we are with his therapy, development, etc.

I didn’t think anything of it, but looking back, hearing him say “I can do it” is pretty touching. To me, this is somehting I hear all the time from him, but to capture it on video, when he was very hesitant is pretty cool. My little guy is such a trooper, and is my lesson in bravery, determination and perserverance!

I’m so happy to say this video has been spreading awareness of LCA, our website it getting rocked with hits, the emails have been wonderful, and we have had donations coming in.

Gavin is our rockstar, by just being him!

Our Project Sight video ended up having close to 300 individuals participate.  We had photos submitted all over the United States, as well as the UK, Ecuador, Australia, Canada, Brazil, etc…

If you lost your sight, what would you miss?  Check out the video for what our Gavin’s Groupies would miss.

I have also put all the photos on our Facebook page, for you to get a closer look.

I thought long and hard about what I would miss.  Nature was at the top of my list, along with photos.  I ended up choosing the sky/clouds.  This is a concept that is so difficult to explain to Gavin.  I loved what everyone came up with.  And if you are curious, I was a mess putting this together.  Every photo I received put me into a deep cry for a minute.  Then I’d get another, and I decided to not look at the majority of them until I put it together.  So, yesterday… there were many tears.  These are all the things that Gavin cannot see, and I get sad for him.  Then of course, I realize how lucky we are that blindness is the condition we are up against, and not another rare disease that is life threatening.  My heart goes out to those families.  With that said, that is why we do this on this day.  To raise awareness of LCA, but also all the other 7,000 rare diseases that exist upon us.

Thank you President Obama and the Obama Administration for recognizing today!

l.o.v.e

Our boy was ready to rock Rare Disease Day with his black skinny jeans and GRSF polo.

… and a final reminder for tomorrow’s Bunco!  If you know how to roll the dice, you will learn how to play in 2.5 minutes.  Simplest, but funnest game! Food and drinks will be served.

 “Alone we can do so little; together we can do so much.” – Helen Keller

Rare Disease Day Facts

A rare disease is classified as such when it affects fewer than 200,000 of the population.

50% of rare diseases include children

80% of rare diseases are genetic in condition

3,000 people in the USA have LCA

150 have the NMNAT1 gene

Gavin is one of the 150 in the USA

He has LCA due to a faulty gene (NMNAT1) Troy and I carry.  Gavin got both bad genes.  Landon got both good genes.  Landon is the only person in our family, who does not carry the LCA faulty gene.

This is the week to share Rare Disease Awareness, to spread the word about Leber’s Congenital Amaurosis, and about The Gavin R Stevens Foundation.  GRSF has done what many other families have done when left with no other choice.  Begin your own non-profit to better manage funding towards the condition affecting your child.

Troy and I have chose this to be our life mission.  We are parent advocates for curing retinal blindness.

We want to always look back, and say “We tried.  And we tried with 100% of our being.”

LCA is not a well known condition.  That doesn’t mean it’s any less important.

Every moment is dark in his world.  Help us make it brighter, help us make it colorful.  Help us bring a future with even minimal vision to this little boy who deserves to see all the beauty the world has to offer!

Thank you for sharing, reading and for helping us spread awareness!

Global Genes Project and Rare Disease Day

The beginning of the year, I wanted to do an update of Gavin.  Just in general, with where he is.  It’s almost the end of January, and have yet to do it.  I want to be better with this blog.  It seems like it’s the first to go when life happens.

Gavin is 4, and is really starting to come into his own.  He still enjoys going to school, everyday.  He goes 11-2pm, M-F.  It is a special needs classroom, and there are about 8 children in his class.  He doesn’t have a one on one aide that is with him, but rather, one of the 3 teachers in the class always are with him for safety (out on the playground, etc.).  He walks around the campus of his school independently; from his class to the lunch room, etc.  He used to use sighted guide, but we have migrated to him walking independently — slowly, but he gets there.

He still has his OT, VI, O&M, and we added Adaptive PE to this years IEP.  He still continues to go to Blind Children’s Center to see his OT there.  He played in his first soccer tournament this past year.  It was with the VIP AYSO league, and we plan to enroll him later this year, and play consistently.  He hears big brother play, and so he can relate to the sport.  He was so excited to “run like the other kids” <his exact words>.  It’s amazing what they pick up, and how he can relate himself.

Our new member of our family should be coming to us very shortly.  Gavin will be getting his buddy doggy… soon.  They are coming to evaluate our home soon, then we can officially adopt our lab.  I think this is going to be so great for him. He is afraid of dogs.. very interested in them, but afraid.  Early on, the dogs he was exposed to were very sweet, but they were the little ones that jumped at him. He didn’t know what to make of them.  I think it left a negative memory with him, because he tends to be on the defense when he is around dogs, regardless of how tame and calm they are.  Trust me, we have tried.  His little friend will open him up – I know it.  This dog has been trained as a guide dog for the blind, but is not certified.

We are still working on feeding ourselves with utensils.  Hardest thing ever.  He’s getting better, much better.  He’s keeping the spoon straight to his mouth (which took us months to accomplish).  We are working on the fork, and open cup drinking.

He is not the defensive little boy that many of you knew from a few years back.  He will not pull away from strangers, and he is turning into the opposite actually.  Wanting to initiate conversations, and asking a m i l l i o n questions after we walk away.  Who was that?  Where do they work?  Do they have a screen door?  Does their alarm beep?  Do they have a truck?  And soo… on.

Still fascinated with doors.  OH the doors.  What is up with the doors?  I mean really.  I have learned he doesn’t like Target doors (they open by themselves), he likes Kohl’s (in Chino), because he can push the button to open the door.  Let’s see.  He still loves Grandma Alice’s screen door, and the gate at school.  He doesn’t like Albertson’s because the double door entrance are BOTH automatic, so how dare they do that right? I tried explaining to keep the flies out – oh that conversation drove me crazy went well.  The Riverside Grill has an AMAZING door.  Did you know that?  The big door, in the back entrance.  Major pionts for that.  The church door and gates are also wonderful.  But Vons, and our front door at home, not so much.  Our big slider door, now that’s fun.  We determine how much fun we will be having when we shop, based on the doors.  Oh the doors.

Music.  Music, music music.  This kids brain and music is beyond fascinating.  Watching him replicate a full song with his body, with his feet doing the drums, he hums the melody, breaks into full on song, and does the beat with his little feet and even his breathing.  Music is still the center of his universe.  I’m looking into getting him into the Academy of Music for the Blind.  He still plays the piano, drums, and has had a peaked interest in the guitar, and listening to the guitar in songs.

He is still the little ball of stubborness that has always been his best trait.  I keep telling myself this is a good trait.  This is a good trait.  As I count to 10 as he pushes my buttons.

We learned over the summer, his light perception with bright sunlight may have allowed him to see shadows against light/white concrete.  We will continue to keep this in the back of our head, and take note.

On the Foundation front, we are in the midst of some exciting times.  The past few months have been spent researching, researching, researching.  We have been fundraising for what we are about to embark on very soon.  The study of his gene mutation (NMNAT1 mutation).  To pay for a research lab who will focus everyday on researching this new gene.  We are putting together our scientific advisory board, and relying on some legal help to make sure the decision we are about to make is the best.  Troy and I were talking, and we can’t believe we are here.  WE ARE HERE.  We found out Gavin was blind, we decided to do all our best to make his life the best we can, and with your help, we are ready to FUND A LAB to try to treat his rare blindness.  This part of our foundation, has been going on for about 8 months, from the time the new gene was publically released, because we couldn’t really pursue anything until then.  I hold all my gratitude to our board of directors, who keep me grounded.

Wow.

Just wow.  I have no words.  I feel like I don’t get how impactful that is yet, because we are so involved in it.

WE ARE HERE – means all of you.  You who have supported and stood by this little boy.  We know that even when we fund the lab, and we are ready for treatment, and if it doesn’t work – we can say we tried.  We tried.  With all your help.  Your kindness, your support and your loyalty to us, as a family, as advocates, as human beings.

To end, this is the song he wanted to sing on the way to church on Sunday.  He is so happy, and so healthy.  And yet lives in such a dark place, that most of us would go crazy in.  But it’s his life!

He knows no better, and no worse.  I will update when we can.  In the meantime, please follow the foundation page and Facebook.  It’s the easiest way to spead the word.

I love recording his firsts.   This is his first time chewing gum.  He got the hang of it pretty well, fairly quick.  We have tried again after this, and the times he is chewing, rather than swallowing, is getting longer.  LOL

Isn’t it normal to try to pull the gum you swallowed out of your belly button?

Gavin is coming along with his braille.  I sat with his VI teacher, and she went over all they have done and accomplished.  When she first started working with him, he would sit in his chair, with his hands stuck like glue to either sides of the chair.  I know this is a mix of his personality, but it’s also Gavin not being too interested in sitting and working on learning reading/braille.

Having said that, and I know how far along he has come, I am very proud of him!  We went through 12 “forms”, and he identified them all.  He also identified the outlines of the forms (he almost got all 12) – and this was right after his 2 week Christmas break.  She showed me the exercises he does for keeping his little fingers to move from left to right on a page, up and down, etc.

They used this, it’s called Rolling into Place (from APH):  It’s a rolling type game/toy.  It gets his fingers moving across the page, with velcro on the ball.  All pre-braille skills.

What we have found to work with him, are recordable books.  Believe me, we have tried every tactile, braille, cardboard, foam, different type of touchy-feely books, with 3d toys, and music books, and there’s no real interest.  His teacher (Bless her), bought him a recordable book as a gift from Santa that visits their school.  Each page was devoted to each of his therapists, and so there are different voices with each page!

BRILLIANT!

During Christmas break, we finally had that break through we were working towards.  He sat with a book, and turned pages for like 15 minutes at a time.  He would take a break, and come back to the book for another 20 minutes.  I couldn’t believe it.  But the interest was there from his teachers reading to him.  He felt the braille at the bottom of each page, and turned the pages on cue.  He was getting the mechanics of reading down, and it was done through something that interests him.  I think this is true for any child. You have to find what works!

Here is Gavin with his recordable book.  I was lucky enough to have some wonderful people want to “read to Gavin”, and purchase some recordable books to send him.  I think the variety of voices, will continue to hold his interest, as we move towards more braille skills.  So, thank you to all of you who are doing this for him!  If you find a recordable book, and would love for your child to read to Gavin, or you, or whomever… please let me know.  We would love it!

We have collected a great library of braille books for Gavin.  He is very interested in the surrounding world.  I think when he becomes a braille reader, a whole new world will open up for him, and he will love it.

 “There is a wonder in reading Braille that the sighted will never know: 

to touch words, and have them touch you back” – Jim Fiebig

]]> http://livingwithlca.com/2013/01/working-with-braille/feed/ 0 http://livingwithlca.com/2013/01/working-with-braille/ http://feedproxy.google.com/~r/AllChildrenshouldBeAbleToSeeASunset/~3/6Wh0Ujpc0uo/ http://livingwithlca.com/2013/01/upcoming-events-rare-disease-day-2013/#comments Tue, 22 Jan 2013 17:11:31 +0000 Living with LCA http://livingwithlca.com/?p=1027

We have a lot going on in the upcoming weeks.  Below is a timeline of our upcoming projects and events we need your support with.

Friday, Feb. 8th – Origami Owl Fundraiser.  If you have not seen these lockets, you have to check them out.  You can create your own story within a locket.  I love mine.  Your purchase will benefit Gavin’s Foundation.  The party will be at my house, in Eastvale.  I will have appetizers, drinks.  It will be a great time! Please email me if you’d like to come, and I will send you my address.  Mindi Moon, will be your consultant/designer for this event.  Please visit her website here.

February 14th – Cookies for a Cause -   This is an annual fundraiser, just in time for Valentine’s Day.  Each dozen is $7, and they can be picked up in Chino Hills between Feb 13 and Feb 14.  If you’d like them shipped, they are $11 dozen.  If you are local and need them delivered, we can also do that for an additional charge.  These are a family favorite 60 year recipe.  Grandma Alice makes them with love and hope that these can help to provide much needed funding to cure LCA.  Order yours on our website.

** Haircut Fundraiser ** The date will be in February.  More details to come.  Please hold off on all those cut, color, style appointments.  A salon in Rancho Cucamonga will be hosting a fundraiser.  The stylists will donate their time to make you pretty, and 100% of the proceeds will benenefit Gavin’s Foundation.  * Details coming *

February 28, Rare Disease Day – Project SIGHT

We need your help, to make this video be as impactful as possible.  Rare Disese Day is Feb. 28, and we want to be a part of this global event.  LCA is a rare disease, and we are fortunate to have a day be dedicated to ALL rare diseases, that deserve a cure!  Using this platform to spread the word about LCA, and bring awareness across the board for all rare diseases, is what we are after.  You can be a part of this, by simply sending us a photo. THAT’S IT!  Email me jen@gavinsfoundation.org OR leave your email address in a comment below. I will send you instructions of this simple, yet profound project!

Friday, March 1 Bunco For a Cause   This is one of the funnest times.  Our Bunco fundraiser is a great couples night out, or just a night out with girls.  We have always had just as many men come, and we love that.  It means it’s fun!  We will have food, drinks and raffle prizes.  Don’t know how to play?  We do a 5 minute quick overview of rules/how to play prior to the game. If you know how to roll dice, you will learn how to play Bunco very quickly.  Come join us!  The party will be at our home in Eastvale, grab some of your friends and sign up today.  We have limited seating.

** We need sponsors for this event.  Sponsorships starting at $40 ** Great advertising opportunity

Because of these events, and your support, we are able to move towards our goal of funding research for NMNAT1.  Your sponsorships are much needed, as well.  If anyone would like to donate a raffle prize for Bunco, please contact me.

April 6th, Irvine Lake Mud Run with Gavin’s Groupies

Spring Break at the Lake!  Please join our Gavin’s Groupies team, and run to help raise awarenss!  We always have a great group, in orange, running in support of Gavin, and all the other children with LCA.  You can sign up under “Gavin’s Groupies” team on the website www.irvinelakemudrun.com.  Prices will continue to increase, so please sign up as soon as you can!  It’s always a GREAT TIME!  If you would rather volunteer, we are always in need of volunteers for this event.  Please contact me jen@gavinsfoundation.org.

Please make sure to follow @GavinsGroupies on Instagram and Twitter!

Here is a little bit about the Durdin family from Australia, and their little girl Shianne.  I introduced Shianne back when we met her in Philadelphia.  She reminds me so much of Gavin!  Shianne also has the NMNAT1 gene mutation.  Just like Gavin, LCA was passed on to her unknowingly from her parents.  I’m so happy she is a part of our Foundation.  I will be sharing two more children who are a part of our Foundation, very soon.  They just found out they also have the gene.  After many years, they FINALLY received word of their gene. It will be through our efforts, of sharing information, that we can spread the word about LCA across the globe.

Hello to everyone, my name is Colleen and I am a wife and mother of three beautiful childen. My eldest, Corey is 10 years old, Tyson is 6 years old and my daughter Shianne is 3 years old. We are a close family especially once my daughter was diagnosed with 
“Leber’s Congenital Amaurosis”, a rare retinal disease that causes infant blindness. We discovered that Shianne was blind when she was about 10 weeks old and it was the hardest thing we as a family had ever been through together.

After a little over two years and with the help of Jennifer and Troy Stevens who put me in contact with Dr.Chiang we discovered Shianne gene – NMNAT1.  The day her condition was confirmed was a day of relief  because we could finally move on.  Moved on we have and Shianne is one of the most adorable little girls I know, she captivates attention where ever she goes and leaves people amazed. Shianne loves to sing and mimic people, she also enjoys being outside playing on the lawn or swimming in the pool. She is up for any new challenge and seems to exceed in everything she tries.

Although Shianne excels, finding a cure for her NMNAT1 gene would mean the world to us as a family.

The day that Shianne says ” Mum, so that’s what you look like” will be the day I pray for.

I strongly believe that day will come and it will only be due to the efforts of awareness and fundraising to help the researchers to keep doing their amazing work.

If you would like to know more about my family or Shianne in particular you can follow our story on www.shiannedurdin.com.au