I am the mom to Gavin Stevens (age 4), who is blind, and was recently shown on a video walking down a curb for the first time. AMA

No questions from me. Just want to say that you are a fantastic mother and your son will live a fantastic life :)

That's the best thing I could have heard. Thank you so much!

I saw the video days ago and was so inspired. I read the whole AMA thing and I cried for a bit. Gavin is so lucky to have such a caring parent. You are proving to the world that it is not the disability the defines a child: it is their environment that shapes them and enables them to understand, connect, and celebrate their own human experience.

You are a beacon.

Wow, thank you for that. He is much more than the vision that he does not have. Those were very nice words to wake up to and read! Thank you for sharing them with me. I cannot take full credit, Gavin's dad is the best father anyone could ask to have, and our full support system is very loving and supportive.

What does Gavin like to do for fun?

He loves to sing, and sing and sing! He is in a Music Academy for the Blind, and is learning an array of different instruments. He also loves to wrestle with his brother, and play soccer. We put a plastic bag over the soccer ball, so he can hear it roll through the grass.

Amazing. Love seeing that his disability doesn't dampen his spirits in the slightest and that he can anything just as well as any other kid.

Yes, we just sometimes need to find a creative way - but as parents, we always make it happen. We have the same expectations for him, as we do our oldest.

• Are people generally overly sympathetic? Like to the point where it starts to get annoying?

• What is something that your whole family can do together, and have fun while doing it?

• Do you personally know any other people with similar conditions?

Thanks for doing an AMA. TIL about LCA.

Some are overly sympathetic. Especially when we go to heavily populated areas. The biggest comment we get is "Poor little boy." I never want anyone to feel sorry or bad for him. He is happy and healthy, and sometimes I don't have time to explain that, so we just smile. It was a lot harder earlier on, we've managed to not let the comments bother us like it used to.

We love Disneyland. Gavin loves to go on the Peter Pan ride, and the Toy Story ride. We also enjoy being at the soccer parks on the weekend, while my husband coaches my oldest, Gavin runs around with my hand and guidance and kicks the soccer ball. We also enjoy taking walks in the evening. Thank you!

Brave kid. Even with the ability to see I don't think I rode in Peter Pan until like six :). Im glad that his world is enhanced by such loving family members :)

Does he understand the concept of sight, that his interaction with the world is different? That must be a challenge to explain.

He doesn't understand the concept of actual sight, yet. We never changed our words around him, so we didn't avoid words like "see" "look", so these words are in his vocabulary, but he has his own meaning for them (by touching/hearing, etc). I don't think he understands his world is different at this age, and we don't treat him like he is.. which I think is the key. There will be a time when we have this discussion, but it hasn't happened yet. I hope to get some guidance from other LCA families on this topic when the time arises, because I think about it now, and not exactly sure of how our approach should be. Great question!

Sorry, I forgot to post the last answer. We do know other people with Leber's Congenital Amaurosis (LCA). It is extremely rare, but thanks to the internet, we can connect. We attend a convention every 2 years, that brings families with LCA together. There are only 4 families in California, near us, (where we live) that I know of, that have LCA.

The sunglasses! The tiny squeaky voice! The backpack! /cuteoverload

Since this is an AMA, I'll throw one out... What's the funniest thing either of your kids has done?

Thank you! That's a tough one, because they both make me laugh everyday...

I think the funniest thing that has happened (and it was one of those you had to be there moments) was with Gavin at the grocery store. Many children who are blind speak in 3rd person when they are beginning to talk. Gavin has just transitioned out of this phase this year. Instead of say "I ate a bagel", he would say "You ate a bagel", etc. Anyhow, we were at the grocery store, and Gavin passed gas. I mean the loudest thing that seemed like it lasted for a whole 30 seconds, and echoed off the walls. It was so loud, he began laughing so hysterically, everyone in the produce section also started giggling and smiling. Trying to diffuse the situation, I kept telling him to quiet down, but he yells out "Ewwww .... YOU farted!!" (Instead of "I farted"). So now, this little 3 year old is blaming it on me, not knowing he is blaming it on me, because he is trying to take ownership... since he is really proud of his tooting rear. It was one of those red faced moments, with about 10 people around laughing, that I will always remember. It's a memory that I will remember during that phase of his life when he spoke in 3rd person for so long, and it's a funny memory to look back on (and be embarrassed about). lol

As a psychology major, it really interests me that blind kids speak in 3rd person for a while. Why is that?

It's interesting to me as well! Would you have any take on this? I have yet to find a concrete answer, yet it is a commonality amongst the LCA children that I am in touch with (through their families). What makes it even more interesting (and this is just my observation), the children that have no vision/light perception only, are the majority in this group.

I wonder if it's because, since these kids have no visual cues as to who is speaking/acting, they associate a voice with a name, and not so much an entire person. Their brain processes the sound of the voice only - not the appearance nor movements of the other person.

So, when Gavin would speak and hear his own voice, his mind labels this as 'Gavin,' or when mom speaks, 'mom.'

Does that make sense? I can't really explain what I'm trying to convey. Haha.

I myself have never been around blind children, so I may be totally wrong!

That is the best theories that we have been given so far. I've heard this a few times, that the children don't understand they are a separate entity in a sense. It's funny you have also said the same thing, and yes it makes perfect sense! Thank you for your input.

My friend's three year old talks in the third person as well. I think it's so adorable! He's sighted, though, I didn't realize it was a common trait between many visually impaired children.

It is very interesting. I know some children who are sighted do speak in third person, and I agree, it is very cute. I've asked his therapists many questions about this, especially his occupational therapist at Blind Children's Learning Center, since she just works with visually impaired children. They really cannot pinpoint why it is such a common trait with children who are blind. They think it has to do with them not understanding themselves apart from other people, but whatever it is, it tends to leave on its own about 4 years of age.

...and honestly now that he doesn't do it anymore, I kind of miss it. LOL I won't tell his teachers that though. :)

Have you thought about having him learn echolocation to see?

We have. We have actually reached out to World Access for the Blind, to begin using their guidance. We hope to begin using their knowledge very soon, it is something we are trying to save up for. We have noticed Gavin's uses some type of echolocation on his own. He knows he is near parked cars, when walking through a parking lot, or when he is approaching a wall/building. Echolocation is such a unique way to help the blind, and am excited to hopefully get someone to help Gavin, aside from what we do at home with the knowledge we have about it.

How would you like people to act when they meet Gavin for the first time?

I would like them to stop and say hello. He doesn't know you are there until you say something. Bend down, extend your hand and say hi. He will begin talking to you instantly and ask you 100 questions!

He is adorable! Why does he wear glasses if he doesn't need them?

Thank you! Many children with LCA also acquire a behavior called eye-pressing/poking/rubbing. There are many theories with this behavior, and no one knows exactly the main reason, but I feel however, it has to do with stimulating the part of the frontal lobe of the brain that desperately needs vision. Gavin, like many other children, push on his eyes with his fingers, fists, etc.. the pressure on the eye, sends a message to the optic nerve, signaling stimulation that is not there due to the blindness. A ramification of this is, deep set, sunken looking eyes, and even damage to the facial/orbital bones. It can also cause scarring/damage to the cornea of his eye. He got the glasses when he was 6 months old, as a deterrent. A blocker. He would try to push on his eyes, and the glasses would act as a means of protection. He is much better now with the eye pressing, but it is still a constant behavior. The glasses are non-prescription, but are transition lenses, so they become a sunglass in the bright light. Although he has no vision, he can detect very bright sunlight, but the bright sunlight bothers him (ironic). This question is the #1 question we get! Thank you for asking.

I'm a little curious about a blind child's school life. Are all his textbooks in Braille or does somebody read to him? Also, when the teacher writes or draws on the board does he have someone tell him what's there? Does he do anything after school to help him with his learning? Thanks, I have an uncle who is blind but was his class valedictorian in high school so I've always been curious with blind individuals learning in high school. Also, thanks for doing this AMA!

He has had a VI (vision impairment) teacher since he was a baby. Obviously not teaching him braille then, but just exposing him to it. We had braille on all his toys (as labels), etc. Since he is just in the pre-braille stage right now, he knows the letter "G" in his name, as well as "N". Our goal right now is just letting him get used to braille, he has not shown a big interest in braille and in books, but recently has become more interested. All his books will be in braille. There is an aide assigned to Gavin, in his pre school. They help to bring the visual world to him, by explaining what is happening, etc. They have been extremely great with having tactile learning items for him to explore while learning... while other children have visual cues. He receives all his therapy while he is at pre-school 3 hours a day, 5x week. He has an occupational therapist, orientation and mobility specialist (who helps with his cane training), a vision impairment specialist (that works with his braille), and his teacher, who helps to orchestrate it all! My hats are off to all of them. He has really thrived in pre-school, and loves going everyday. I know once he starts kindergarten, it will be a big learning curve for our whole family!

That all sounds expensive! Is that covered by insurance, provided by the state, or out of pocket?

This is provided to children with special needs under the state. These are all state programs, funded through our local school district. I know different states and counties work differently, and I do know of other families who do not receive as much support as we do, based on the region of where they live.

As a mom who had a baby/toddler with special needs, I know how awesome those teachers are. I owe them SO much.

I agree 100%!! They were, and have been our life line.

When the time comes, get fully involved with his school's PTSA, having that extra link in to the school will give you lots of leverage when a time of need comes around.

Thank you very much for that. I will definitely keep that in mind. I know once he enters kindergarten, it's going to be a big learning curve for us. I appreciate it.

What's it like to raise a child that was born blind?

When did you find out he couldn't see?

There are a lot of things that I couldn't imagine doing without being able to see. What are some things that were unexpectedly hard to teach Gavin that wouldn't be to someone that possesses regular vision?

Initially, very hard. You wonder what kind of quality of life your child will have. We mourned his vision for a while, and still do. It is very much like raising our 9 year old sighted child in many ways. In other ways it is very different. Vision is the key way a baby/child learns, so with the help of many therapists, we have had to learn how to stimulate his development.

I knew the day he was born something was wrong. He passed every eye exam, every month. Finally at 3.5 months, I demanded a specialists. It was then we were told he was blind, but didn't know the cause.

Teaching Gavin to crawl (which he never did). Teaching him to walk, and help gain the self-confidence he needed to want to move around in space and explore. He never reached for toys, so we had to find the right approach to introduce them to him. He was tactile defensive, and didn't want to touch anything. TEaching him to hold a spoon right now is still a struggle to teach him to feed himself.

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When they do a newborn/baby "eye test", they just test the pupil, by shining light and seeing it dilate. Gavin's eyes did this! His cornea, lens, pupil, and all outside features of his eye looks completely normal. The problem is on the back of the eye, on the retina (particularly the macula, which controls central vision). A typical newborn/baby eye exam, doesn't involve dilating the eyes and looking deeper into the eye. We were always given the green light, and all looks good. Deep down, I knew something was wrong, and I went with my instinct until we demanded a specialist.

I was very touched by the YouTube video, but also very impressed with your obvious loving interaction with Gavin. What kind of support do you, as his parents have?

Thank you. We come from a very loving family, that has extended to a close knit of wonderful friends. It is because of this support system, that we feel we can be who we are. We can cry when we need to, we can go to them for support when we need to, and we can all celebrate together, when the occasion calls. Our support system knows how big the small things are to us (just like him stepping down a curb, or recognizing the braille letter "G", or walking by himself a few feet). Our other part of our support system, are our other LCA families. Some of them have children who are blind, who are at the same age, or older. They offer advice, for a stage you may be in for your child, and then you may also become the support system for another family. We try to not get frazzled or stressed, and know that Gavin will do what he does on his own time.

What kind of challanges have you encountered from medical proffesionals? Do you often battle with them over things?

I find with our current case (2 kids with various special needs, found out today me and one of my children have FOXC1 Gene Duplication, which explains my eye sight issues, probably my moms glaucoma, but we have no clue what the future holds) with our situation I am always battling with someone to listen to me. Between Autism, 2 brain surgeries, seizures ect. I often feel like I am a crazy loon! LOL Did you ever go through this type of phase?

I have to say, it was only early on that we had to battle. This was during the time when we didn't know what was going on, but I knew 'something' was wrong. His pediatrician just wanted us to wait it out, and allow his vision to develop, and wait until the 4 month mark. Finally, when we did get the specialist referral, we had to fight our health insurance for about 6 months, to get the testing needed covered to further investigate Gavin. That was a dreadful and stressful time for us. We had a baby that was blind, we didn't know why, and the test needed for us to find out more information was not being covered by our insurance. I have learned, I don't know about you, but I listen to my intuition a lot more closely now. Gavin's retina specialist did tell me, he has learned to listen to the parents, because they are almost 100% right! I am so sorry to hear about your struggles. Keep your voice heard, and advocate until that person hears you... sounds like you are doing it now. Unfortunately I feel when it comes to special needs children, you do have to keep talking and talking and talking until that person listens. I can only imagine how exhausting that has to be. My hats of, and best to you family. I hope you find the support you need for your FOXC

** FOXC1 Gene Duplication.

Thank you, I am still at the point with the FOXC that I am mad, pissed off, and want to be angry, having dealt with pretty major diagnosis in the past though I know that this is all part of the "grieving" process that one goes through when they get a diagnosis like this. Autism, Craniosynostosis (yeah look it up, its kinda scary), and Arnold Chiari Malformation Type 1 are just 3 of our top "diagnosis' we have a whole list of syndrome like symptoms but no one knows "what it is".

As of today though I put my foot down with the genetics doc and he is seeking out "more specialized geneticist", so at least he is listening to me a bit now.

Anyway, didn't mean to rant here, but I am glad that you guys no longer have to fight for medical care (except of course the ever lasting fight of insurances). My thoughts are with your family, your little boy is so blessed to have such a supportive loving family!

Thank you for that. I am so sorry to hear. Are these considered "rare diseases"

Yeah, my pediatrician told me to write a book.. I'm still thinking about that..

I don't know if you have heard of Global Genes. It is a non profit for rare diseases. I recently became one of their advocates for rare diseases. They are a very sincere group of people running this organization, whose goal is to unite and help people in situations like yours. Just throwing it out there, I know there is a lot of support groups, and don't mean to add another to the list.

Your son is adorable! I am so glad to hear he has a family dedicated to making sure he has an active and fulfilling life. <3

LCA was addressed on a TV show called Bones. Did you see it? What are your thoughts on the way blindness is portrayed in the media? How do you think Gavin will react to it when he gets older?

Thank you!

Yes, we did see the show. Our whole LCA community was so excited that it was being discussed. We were hoping it would continue with the story line, and the baby would be born with LCA. So there could be continued awareness.

The thing with LCA, is it happens when you are born. If you have LCA, you have some type of visual impairment. Gavin's was on the more severe, with none. Some other children however, have more vision when they are born, but that vision deteriorates. Since it is a childhood type of condition, that continues through life, I have learned many people do not know what to do when they meet a blind child. It's not often you come across a 2 or 3 year old using a white cane down the street. I think when the media sees this, the first reaction is to feel sorry or bad for him. That is why I try to share other videos of Gavin singing (which is his passion), so everyone can see how happy he is. I don't want people to feel sorry for him, so we have done our best in our press interviews, to express how happy and healthy he is! I hope Gavin will be proud of his parents for doing everything they can. We want to look back and say we did everything we could to bring awareness in the media to this very rare condition. If that in turns means Gavin doesn't want to pursue treatment when he is older, we are going to support his decision, and will still feel we did what we were supposed to do.

What are some of Gavins favorite questions to ask people?

This is going to sound funny, but here they are. And I will explain.

What's your name? Are you a boy or a girl? What's your mom and dad's name? Do you drive a van? Do you have a screen door? Do you have a dog? Do you have a real phone? ... just to name a few.

His questions are typically to get a feel for who they are, but the other questions regarding doors, vans, and "real" phones, are because he wants to play with them! He is obsessed with doors, especially van doors and screen doors, because they sound cooler to him. "Real" phones (as opposed to fake ones - lol), are phones that are either rotary or cordless type phones where he can feel the buttons. He loves to also ask if you have a dog. He is afraid of dogs. He is taking mental notes based on these questions, to see if he wants to come hang out with you or not - lol.

That's GREAT! ! But I guess that means since I have dogs, he won't want to come and hang out..... :'(

We are actually getting him a guide dog buddy. It's a program that adopts out dogs that have been trained to be a guide dog, but yet don't quite make it in the service category. They adopt them out to children who are blind. Once we have our dog, he will become more familiar with them, then he can go hang out. LOL!

Will Gavin ever be able to see, and if not with current medicine, with something down the road a ways (stem cells, gene therapy, etc.)?

Thanks for the AMA

Gene replacement therapy has proven to be effective in many ways for LCA. Corey Haas (who at the time was 9 years old), was the youngest to receive gene therapy, and it has continued to have success with his vision improving/not detiorating. Stem cells may also play an important role for those who have LCA, and whose cells on the affected area on the eye are no longer existent. Induced pluripotent stem cells are also a big talk right now for LCA, and there is a lot of research going on about it. We hope the momentum continues, and through our organization, we can provide effective means of funding for treatment. The last 2 years specifically have been the most impressive for LCA research.

Well that sounds encouraging. If you decide to go that route, then good luck!

Than you!

I watched a few videos of Gavin at his music lessons. Other than singing, is he learning any other instruments? Has he progressed faster in music compared to his peers?

He is currently being exposed to the ukulele, piano, percussion, the recorder, and was shown the violin the past week. He has weak finger strength, which can be attributed to his blindness, because he was very tactile defensive for a very long time. He did not want to touch or hold anything, and the strength in his fingers needs to continue to be worked on, which is what we are doing. I would say piano is his strength. He still pokes at the keys, but as soon as he gets the strength needed to utilize all 5 fingers, he will soar. He can find each key in each octave, and can replay pretty accurately a simple song played to him. But again, it is through poking the keys, so there isn't a lot of fluidity. His musical ear in general, and his tone, is far surpassed that of his peers. And that is what his music teacher has expressed. His teacher says he has no boundaries when it comes to music. I can't wait to see what he does in the future!

What are your thoughts on a service dog? I don't know how common they are amongst the blind, but I do know there is a blind lady on my campus that has one.

We are interested. This is something that young blind adults can get when they are older. I believe the age is either 16 or 18. The reasoning I believe is because they would like the individual to rely on learning traveling safety independently, and not rely on a dog. We are actually getting a trained dog for him now through a buddy program, it's designed for children who are blind. The idea is to help them get used to being around dogs, and living and caring for a dog. These are dogs that have been in the training to be a service dog, but yet for whatever reason, do not make it through the program. We have seen how much a service dog has helped those who are blind, and we will highly encourage Gavin to have one in his life!

It sounds like you call him "Bubba" or "Baba" in some of the videos, how did he get the nickname?

Also you sound like a great mother, and I wish you and your family all the best :).

I think my husband started calling him "Bubba." It seems like in different situations, we call him different things. I think when I'm encouraging him, I do resort to Bubba for some reason. It might be because of my husband, and the way he talks to him, that I just pick up on it. I call him monkey, and my husband also calls him Jones (or Jonsie). We were at the horse races for a family gathering, and one of the horses was named "Monkey Jones". Since I called him monkey, Jones kind of stuck. We call him Gav and Gavie a lot too! I never really thought about this until this question, I'm going to ask my husband why he calls him Bubba now!

i study a lot of different languages and so i thought it interesting because in spanish, we often say "papa" to little boys when encouraging them and in english "dada" (or daddy).. in arabic "baba" your pronunciation sounded so close to the arabic "baba," it made sense to me... and bubba.. very southern and used for the same soft meaning. i think across all languages we have that sound, the same reference, we use to reference children, especially when being tender.

You're so right, there is a consistent sound across all languages for this type of reference. I've never thought of it that way... thanks for bringing it up.

I just wanted to tell you, I'm in a wheelchair, have been for the past 10 yrs, I've pushed myself over 2,500 miles since May 1. Your Son is here to do great things. Feed him knowledge. Knowledge will bring him his peace. If you ever were going to strive for his happiness, knowledge is the only way. We are here to learn, and he is a shinig star. Introduce him to outer space and the galaxies. Give him challenges for him to work out with his mind. Thank you for sharing your and his story. You are a wonderful mother and you have a gem of a Son! GOD Bless YOU BOTH!

Thank you very much for your words of wisdom! I respect your insight, due to your own struggles, and yet you are inspiring me! That is what I love about the human spirit, as long as it doesn't get skewed by our definition of what we thought our lives were to be like. We are living a different life than we imagined, but it's almost more beautiful and meaningful, than I thought was possible. Thank you again, I wish you all the best, and appreciate your words, that I agree with 100%!

You say he's completely blind. Now when I cover my eyes I see darkness, does he? Or does he see nothing in the same why your elbow sees nothing. Also if he does see darkness does he see the fuzzy weird light patterns that appear when you block your sight. Also has he mentioned dreaming yet?

This is one thing we don't quite know yet. Since he doesn't know what seeing is, how does he know he is seeing darkness? I do know, in bright sunlight, when the sun is right above him, he squints. To the point where it bothers him. This is something very difficult for me to understand in a way with LCA and blindness, because many of the individuals with LCA are also photophobic (light sensitive). But yet, they do not have vision, to where they can see actual objects. Some do, but some do not. So, with Gavin, we say he is completely blind, but with minimal light perception in very bright outdoor light. A very bright light indoors, we don't get this reaction from him. We have learned it is only sunlight (bright day sunlight). I think as he gets older, he will be able to convey to us what the outdoor light means to him, in a way of what he can detect the light, and to what degree. For being 4 years old, all this is based on his tests done by the doctor, and what we have picked up as his parents based on his behavior. Some say with the eye pressing, the children "see" the white flash of light, but again, I probably won't know that answer from him until he is older. It is something that is very interesting to me, and that little part of Gavin that goes into the "unknown" category. He has mentioned dreams, and he mentioned a whale in the water that scared him and had his arm in his mouth. I was floored when he woke up crying and told me this in the middle of the night. I asked his teacher, brother, etc. if anyone mentioned a big whale in a book, or with a toy. I don't know how he got the concept of a "big" whale. We know whales are big, but a whale is not something you typically touch everyday (or ever), so for him to have that concept kind of caught me off guard. I am fascinated to know what he dreams of... because he does talk in his sleep. When I ask him in the morning, I don't get much of a response.

You might find this man's videos interesting. I don't know if he has LCA (I haven't seen all of them so I don't know if he explains his condition), but he's been blind since birth and answers questions that everyone asks him. This one is about "what do blind people see."

http://www.youtube.com/watch?v=ZDHJRCtv0WY

Yes, we love him! So glad you have watched his video. He as a very interesting perspective, and we love his sense of humor. Since we are still trying to figure things out with Gavin, we love watching his videos, to gain a better understanding of our boy!

How was your day?

My day was great, thank you. How was yours?

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Gavin doesn't understand (yet). We never changed our language, and asked others not to as well, (ex: Let's go see brother.) His way of 'seeing' someone is different than us, but we never changed the words "see" or "look", etc. We never avoided them.. he just saw it differently. This is all he knows, but I know as he gets older, he will want to know more. This is where we are right now. We don't want to tell him he is different, etc.. since this is his normal. He wouldn't at this age understand what being blind means, since he has no point of reference. I know I will get some help from our other LCA families, when the time comes to explain it to him. I do know when he says I want to "see" it, he asks you to put it in his hands, and when he asks if you are "seeing" it (whatever it may be), he asks if it is in your hands. He did ask where my cane was the other day, and I asked him if I needed a cane, and he replied with "No, because you're mom." I will take his questions with an open mind to explore it to where he can understand it, but I don't think he is there, just yet.

"No, because you're mom." Made me tear up! The video is an inspiration! Way to go Gavin!!! And you are a great person mom!

Thank you so much! I appreciate that. I am truly thankful for you wanting to learn more about our son.

How do you feel about Bionic eyes and the progress that have been made with them lately?

I am thrilled for the progress Bionic eyes has made over the past few years. We sat in a convention when the first phase was introduced, and my husband and I were blown away. We had never heard of such a thing, and yet were able to meet the people who were a part of a trial, and hear their stories. There was still a lot of work to be done then, but to see how far it has come - I think it is wonderful. For those who choose a visual prosthetic to achieve greater independence in their life, I am totally on board with.

thats great to hear :) best of love to you and your son.

Thank you very much.

Can you ask Gavin what he thinks the world looks like?

I just asked him, and he laughed and said "I don't know." A few moments later he said "The world looks like earth." This is a great question, I'm going to try again when he gets home from school, and see if he has another answer. He's in the middle of singing, and when he is in a zone, he's focused - lol. Great question!

See if he can give a description of a tree.

I asked Gavin earlier what a tree looks like (my words exactly), and he replied with .... Christmas. (and then he said Christmas Tree). Interesting.

Are you still taking submissions for Gavin's Sunsets?

Yes, we are always adding sunsets to our collection. :)

I have no questions but he's adorable and you seem like an awesome mom!

Thank you so much! Very sweet comment to post.

So glad you're doing this AMA, Gavin's video really touched me, and after watching it I went through a lot of the other videos, and was just amazed by how great the family dynamic is (you can really tell how supportive you and your husband are, it's so refreshing!), and how he handles his condition. Thanks for sharing it with us!

What is the likelihood of treatment in your opinion? What is an advantage that Gavin has due to his blindness, have you noticed any heightened senses? Finally, how do you see his life in twenty years, how do you visualize his future?

Thank you so much! That was very nice. Our love and happiness for our family, is our #1 goal, regardless of what lies ahead of us. We live with the philosophy that we are beyond thrilled to be parents to these two children.

There will be treatment for LCA. I know that with every fiber of who I am. Now, when this will happen, is the multi faceted question. It depends on medical science advancements (which with LCA have been monumental in the past 2 years). Which depends on money for research (which is the reason my husband and I started Gavin's Foundation). Over 22 children worldwide have regained vision in a clinical setting, with other gene mutations that cause LCA. Gavin's gene mutation is very new, but the bio-chemical make up of his gene, is very advantageous for gene replacement therapy. This is what we will begin funding soon with the money we have raised. A research lab to begin working on his gene mutation, and trying to figure out basically how it works. At the end of the day, our philosophy is, Gavin's here now. We are enjoying him today, and making his life the best it can be. If he was to never have vision in his life, we are completely ok with it. But I also feel LCA was given to us, to begin a movement to try to bring more awareness and a cure. If it's not for Gavin, it will be for another child, because of Gavin.

His keen sense of hearing is unreal. I mean, it's hard to even explain. Especially when it comes to music, he has such a natural musical ear, that is astonishing and so amazing to watch! I opened a small bag of reeses pieces across the room the other day (he had head phones on). He perked up and said "mom, are you eating my reeses pieces?). He smelled it from across the room.

I hope in 20 years he is happy, a respectful man, and a positive person in our society. As far as what Gavin will be doing... he will be blessing us all with his music somehow. Either producing music, composing it, singing it or playing it. Music is who he is, not just a part of what he enjoys. I hope it continues to bring him joy, and as a parent, we will support whatever he would like to do as far as a career. Thank you again for your nice comment.

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I do. If you notice, I try not to put "blind 4 year old" in his YouTube videos. Even though he is blind, and we have accepted it, it is also just another quality or characteristic of what makes Gavin, Gavin. This is why I constantly try to redirect to saying his is very happy and very healthy, so the blindness term associated with Gavin, doesn't give a negative feel. However, it is a big part of who he is. We live with his blindness, in our family, and in our everyday lives. By that, I mean, we are conscious of it, because we are in a sense trained to make sure he is getting input we typically only get with our vision. I appreciate your sincerity... it is also our wish to bring attention to LCA. LCA deserves it, because medical science has proven it can be treated, but we need more money and time to figure it out. Just because it doesn't affect a large population, doesn't mean it is any less deserving. Thank you again.

How did you feel seeing him walk for the first time, especially after seeing his response?

The process of him walking, took about a year. It took a long time to get him to just sit up independently. His favorite spot as a baby, was laying completely flat on his back, with full body contact to the ground. If you think about it, this is safe. Sitting up, and being in open space, not knowing what is around you, and most importantly, if you are safe. We had to teach him this, before we even began trying to help him take his first step. Once he began standing, we would lean him against the wall, and encourage leaving the wall, and walking into open space. Once he did that, he was very hesitant, but also very excited and also a little stressed. As the weeks went by, and he began to realize we were there to protect him, and he felt safe, he began doing it himself! Now we came to the hard part, because now he was walking, but how did he protect himself? The months following, we had to teach him "hands out"... he walks with his hands out to protect his face and torso. I remember him laughing and laughing, when he took his first 2 steps, and really understood what he was doing. I'm getting teary eyed thinking about it.

Thanks for doing this ama!

How do other children treat him upon first meeting? Do you worry about the future with his socialization?

Thanks for your interest!

Other children are either scared or often not sure how to act towards him. The first thing as humans we do to connect is lock eyes. Gavin doesn't do that. They approach him, and stand there wondering why he is not interacting (by looking at him). I have to begin the introduction, but I find children have a difficult time connecting to him initially. I used to worry about his socialization, until this past year. He started pre-school, and can sometimes be the class clown. I know he will be just fine.

Wow, i am glad to hear hes becoming a little goofball haha!

Im sorry other kids seem freaked out at first, i really hope he doesnt take it to heart.

He is a little character. He gets the attention of whoever is around him. He doesn't really know any better. It's the smaller children, or babies that have a hard time really connecting, since they don't talk. And that is what Gavin relies on. He ends up finding a way to communicate with them. :)

I watched that video and it warmed my heart. I had tears in my eyes and felt like a proud parent at the same time. You guys are great, he's lucky to have you to help him grow instead of coddling him. Tell him that he inspired me, a grown woman!

Thank you! It's very easy to coddle him, and especially when he was a baby. I didn't want him to leave my arms and venture into this sometimes cruel, yet beautiful world. But we knew that would do no one any good! I will tell him... thank you for sharing your kind words with me.

Would you mind posting a story to /r/strongstories of how you had showed strength through any tough times?

I would love to. I will plan on doing this first thing in the morning!

Does Gavin participate in sports? If so does he play in leagues specifically for blind children? Does LCA have any other symptoms or conditions? Is LCA the most common cause of blindness in children? How close is the LCA community? Thanks for the AMA and tell Gavin he's super cool!

Gavin played in his very first soccer tournament last fall. It was a VIP league for AYSO. For children of all disabilities. We use a plastic bag over the ball so he can hear it. There is also a league for the same concept in our area for baseball, but I think he is still too young for that just yet. There is something called beep ball, and it's baseball for the blind/VI. I don't think we have a league nearby in the area, but is something we definitely will pursue if he has interest. LCA causes something called eye pressing. There are many theories behind this, one being trying to stimulate part of the brain that is not getting the vision it desperately wants. This is why Gavin's wears non-prescription glasses, to try to detour that behavior. Some mutations associated with LCA, can also cause kidney problems/failure. Gavin's kidneys so far are healthy, and we don't think his type of gene mutations is one of them. LCA is the most common cause of childhood blindness. Our LCA community is very close! We rely heavily on each other for support, and thanks to avenues like social media, we are able to connect across the globe. LCA is a very specific disease since it is a retina condition, and the blindness is not caused by another secondary condition.

As a graphic designer, I've always wondered this.

I'm not necessarily wondering how you would explain a movie poster or business card to Gavin -- but moreso colours and shapes.

Gavin understands shapes. This is part of his pre-braille work that he is doing right now. He has a flat board that has raised shapes, so he can feel them. He can identify all the shapes. Then his teacher moved to just have the outline of the shapes, and he has now identified all of those. One thing we have always had to work on is his understanding that a circle can be big and small, and that a circle is in fact a shape, which fits into a category. His understanding of concepts had to fall into place before he could really grasp this type of identification with shapes... but slowly we are here. For example, when he first started identifying a ball as being round/circle, he thought the ball was named round/circle. So this took some time. Colors are something that we continue to expose him to, but he doesn't have an understanding just yet. I don't know how we will tackle that, but for now we have colors in our vocabulary, and it's another word that he knows we use to describe something. Colors are one of those things, like the sky, clouds, rainbow or sunset. It's something that really can get to me, when I see a beautiful rainbow, or a pretty sunset over the ocean. Everything else we can describe, or he can feel and touch... those are things he cannot.

Thank you very much for responding and taking the time out of your day to do this.

I appreciate your interest in learning more! Thank you.

First I think you and your husband are awesome, and Gavin seems like a fantastic young man that I believe has a bright future a head of him.

This subject is very interesting, you say colors are in his vocabulary, but does he understand what they are? Or what does he think they are?

Thank you very much. Yes, it is very interesting. For instance, we don't not talk about colors in our home, just because Gavin cannot see them, or right now understand what it is. He knows he has a pair of blue shoes, and black shoes that are his favorite. When I ask him what shoes he wants to wear, he will reply with either black shoes or blue shoes. We know them by the color/look - but that meaning to him means something to him, but he uses the words as an identifier. I'm afraid I'm just causing more confusion - lol. It is one of those things that we talk about, or he will ask what color the couch is, because he is now understanding that things are of color. The odd thing is, he has never asked me (I will ask my husband, and his teachers), but he has never asked to "hold red", or to feel a color. I'm afraid if I begin to introduce that the color red - is like something hot, that I will just thoroughly confuse him right now at this age. So, the color thing is just something we use as another adjective when describing something. We know colors are all around us, and as he gets older, it will be part of his vocabulary, so it's something we do use now when we talk, and not stay away from. I hope that makes a little bit of sense. This has made me more interested, I will ask him about colors when he gets home from school today. :)

Thank you for you answer.

Everything makes perfect sense! Please post his answer, I would love to hear what he has to say about it:)

What kind of music does he like?

I asked Gavin about colors, and he said "There are 7 colors." I asked him what the color blue was, and he said exactly "I don't know." I asked him about the other colors, and he was not very interested, so I didn't push it. I will continue to ask him as time goes on, as a color is mentioned in our every day talk.

Gavin honestly loves an array of music. His older brother loves hip hop, pop music.. and he is drawn towards that type of music, I think because of the fast beats. He also loves country (thanks to me, and that being all I listen to in the car). But, he also loves Michael Buble, Bruce Springsteen, Elton John, Mumford and Sons (loves their instruments), and he loves to hear Celine Dion hit her high notes in certain songs.

No real question, here. I watched his video a few weeks ago and hearing his little voice say, "I can do it!" touched me in a way that few things ever have. He's the bravest, coolest little dude, and I hope life has nothing but amazing things for him and your family.

I really appreciate that. I continue to tell myself that he is my lesson in bravery. Even though for him, he is just doing what he knows he needs to do, and there's nothing great about it. However, every day he encounters our visual world, and is thriving in it! I am grateful for your kind words about my son!

Something that always interests me is how blind people intetpret what glass is. Has Gavin been exposed to glass? More accurately has he been exposed to the idea of glass?

This is one of those things when it comes to explaining, that falls into the category of explaining pictures. He knows what glass is, as in like a window. But we have never explained looking through the glass, or even more complicated a mirror. If I tell him a mirror is to look at, and see yourself, that definition has a totally different meaning to him, as he sees with his hands. We have never had a conversation with me asking him what glass is, I think I will ask him that. Whenever he approaches a glass door/window... he will identify it. So, by touch, he understands the feel of it. Great question!

Does he understand the concept that you can see and he can't and if he doesn't how long would it take for him to catch on to it?

No, he doesn't understand that concept yet. He doesn't understand what vision is, since he has no reference of it. He is not at the age yet, where I can try to explain it, and he will understand. Other families have explained this to their children, at a young age, but not as young as 4. I think it's something we will deal with in the next couple of years, or when the moment is right, when I see that he is ready to try to understand. That will be a defining moment.

How do you think he will feel at the defining moment? Tears,confusion,Anger (let's say you tell him at 7-8)

I think that moment will be more defining for my husband and I, as far as emotions. Just because we are parents, and all the emotions that come along with that. Gavin knows only what he knows. In my mind I can kind of explain it like this. Us as humans have 5 senses (sight, taste, touch, smell, hearing). What if right now, at my age, I was told there was another actual 6th sense, a sense that most everyone else relies on everyday. But I do not have that sense, and was never born with it. To me, I'm happy with my 5 senses, and I would look at the 6th as a bonus, but to everyone else that actual 6th sense is a huge part of their life. I don't know if I explained it like it is in my head, but that is sort of how I would think Gavin would feel. I think Gavin would know he is ok, and the way we hope to raise him is to have an understanding that the world looks different to him, than it does to us, but it won't alter his quality of life, nor his happiness. For us, as parents, I think there will be a lot of tears (on my end at least for sure), reason being that will be that transition from him being young, to being older and addressing the condition that only he has, in our whole family.

Even with that being said, my husband and I are trying to help medical science as best as we can, to bring vision to those affected with LCA-NMNAT1. But, at the same time, we know if this doesn't help Gavin, but it does help another family, then we have done our job. :)

Aww if you ever wanna see some advice about being blind that Gavin can use look up TommyEdisonXP. he's a middle aged blind man that show how he lives his life being blind since birth.. he drives,play basketball and even uses a iPhone.

We love Tommy Edison! I think we came across his videos last year. I love the humor he brings when addressing his audience. It gives me a glimpse into Gavin's life when he is an adult, and it lets me know that Gavin will be just fine. We also follow him on Instagram, very interesting! Thank you for sharing with me.

I just came to say what a great attitude your son has, loved the video and wow I learned more about blindness in 30 minutes than I have in my whole life. Thanks for doing the AMA. Does Gavin understand the difference in his own level of vision and yours?

Thank you for that. I'm glad you have taken the time to learn more - it really means a lot to our family. He doesn't understand the level of vision that we have, and what he does not. When we do use words like "see", he understands it as feeling, touching. We have never told him that he cannot "see", and that we can, as that will thoroughly cause confusion at this age. We also have not said anything to the point that he is blind. We don't avoid the word, but I have never said "Gavin you are blind, and mommy is not." I think that level of understanding will come with time. I think at the age of 5, which is just next year, he may begin to develop some more understanding.

thanks for the response, I certainly wasn't expecting one so I appreciate you taking time to do this. I think what you're doing is helping to put this topic on many people's minds. Keep up the good work and positive attitude, it's infectious to those around you, likely more than you know.

Your answer to my question is fascinating, I never really thought about him equating "see" to "feeling" but that makes sense (no pun intended). He's a cool lil dude for sure and obviously your family and now Reddit is very proud of him. I rewatched the video last night and it's remarkable what a powerful thing that is to see him accomplish what we take for granted.

best of luck on the medical front, I wish some politicians weren't blocking stem cell research due to their personal beliefs especially when it was in it's infancy. I think we'd be a bit further along by now. I've seen videos of people who have regained hearing due to advances in technology and I really hope that Gavin gets an opportunity to share a similar experience with his vision. Please keep us updated on his progress.

Thank you. I also just posted another response to a similar question, and I elaborated a little more, if you are interested, its the comment right before your question, I believe on this thread.

I truly appreciate your interest, as his mom, but also the co-founder of our Foundation, and an advocate for rare diseases and LCA. I am speaking with many hats, but it is also because of the response of sharing our story, and putting it all out there, and having people want to learn more, that has really brought us to this place. We are in final agreements with funding a research lab to further explore his specific gene. We will have a press release hopefully next week, to announce our big accomplishment as a foundation, and the next phase of our mission. Gavin's Foundation website will have all the info if you are interested in keep up. Thank you again.

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I say he is healthy, because it is an accurate statement to make. His type of genetic mutation has not caused any secondary conditions, that has resulted in a decline in health. The condition is specific to the retina of the eye.