Thursday, January 9, 2014


On Saturday we finished our first training sessions for echolocation with Brian Bushway from World Access for the Blind! Brian travels around the country helping other visually impaired people learn to use sound as a tool to navigate.

Brian came to Georgia from LA, to work with my grandson Myles and two of his friends from the Center for the Visually Impaired.

The boys did so well. Each of them made real progress during the two days that Brian worked with them. Brian explained to us at dinner after the first session, that the brain actually adapts and functions as if it is receiving visual information from the eyes by using sound instead, so you really can "see" with your ears. Testing shows that the brain can use sound information to produce a very similar neurological response when compared to a response to visual information. This neurological response produces images in the brain of what your ears are "seeing". So you can actually "see" with your ears that there is a tree, a car, or a building. Amazing right? By the end of the day yesterday he had the boys walking complex obstacle courses, finding hallways and alcoves, having foam sword fights and finding a bowl or tray in front of them or beside them just by using sound.

This article tells a little about it and about Brian. There's a really cute video too.

It was a wonderful experience. Brian is such a great role model for the boys. He taught us all so much in such a short amount of time. We are exhausted but so grateful. Myles is already sad that he is gone and says he misses "his" Brian. We can't wait until he comes back this summer. I think it's going to open up a whole new world of possibilities for the boys. I could already see more confidence in the way that they were traveling by the time we were finished yesterday.
Boys learn sensory technique to gain ability to navigate

Saturday, March 23, 2013

Myles's Circus Experience/Circus touch tour

Circus touch tour

I wanted to share this because it was so special. Ringling Bros. Circus gave Myles's preschool class from the Center for the Visually Impaired tickets to the show on March 1st. I just found this short video that was on the news. The seats were so close to the floor, it was fabulous. After the show they got to have a private hands on show. The elephant played the harmonica and Myles did his very best to slip under the rope and get to the elephant. I had to hold him back. He had such a great time and the people from the circus were so incredibly patient and kind. It really was amazing. I wish that I'd gotten more pictures, but all I had was the phone camera and a lot of them just didn't come out.

Sunday, June 13, 2010


More progress in the treatment for Lebers. This is not the mutation that Myles has, but progress in the treatment of the disease is wonderful and could lead to a treatment for his mutation some day.
Oral medication for Leber's congenital amaurosis demonstrates biological signal in early study

VANCOUVER, British Columbia — Three patients enrolled in a phase 1b proof of concept study for an oral medication therapy for Leber's congenital amaurosis had vision gains and reported improvements in functional vision after 7 days of treatment.
According to a press release from QLT announcing the interim study results, the three patients, age 10, 12 and 38 years, had rapid improvement in best corrected visual acuity, Goldmann visual field testing and/or retinal sensitivity after initiating therapy with QLT091001, a synthetic retinoid replacement therapy. Improvements were most pronounced in younger patients, and results continued to improve over time, up to 4 months, the release said.
All three patients share a common genetic mutation in lecithin:retinol acyltransferase. Future enrollment will include patients with genetic mutations at RPE65, according to the release. The study drug is a synthetic retinoid replacement for 11-cis-retinal.
"These preliminary results are very exciting, are better than expected, and provide a measure of hope that a treatment might be developed for this devastating disease," Robert K. Koenekoop, MD, PhD, the trial's principal investigator, said in the release.

Wednesday, April 28, 2010

Wednesday, April 7, 2010

The Results are in...

The results have finally come in on Myles's genetic testing. Although he does not qualify for gene therapy that is currently being conducted there is hope. I found this on the LCA Blog

Saturday, August 29, 2009

Gene therapy works on AIPL1 mice

"I'm sorry this blog hasn't been updated in a while. Now there is
finally exciting news to share. A study has just been publish demonstrating
that gene therapy works in mouse models of LCA caused by mutations in the
AIPL1 gene! The conclusions of the authors are very encouraging, as they
recommend the technique to be used in human trials!
AIPL1 is the 4th gene for which gene therapy has been shown to work,
together with RPE65 (for which studies are continuing and growing on
humans!) and Gucy2D and RPGRIP on animals.

Here is the abstract from Medline


Gene Ther. 2009 Aug 27. [Epub ahead of print]
Gene therapy with a promoter targeting both rods and cones rescues retinal degeneration caused by AIPL1 mutations.
Sun X, Pawlyk B, Xu X, Liu X, Bulgakov OV, Adamian M, Sandberg MA, Khani SC, Tan MH, Smith AJ, Ali RR, Li T.
Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA.
Aryl hydrocarbon receptor-interacting protein-like 1 (AIPL1) is required for the biosynthesis of photoreceptor phosphodiesterase (PDE). Gene defects in AIPL1 cause a heterogeneous set of conditions ranging from Leber's congenital amaurosis (LCA), the severest form of early-onset retinal degeneration, to milder forms such as retinitis pigmentosa (RP) and cone-rod dystrophy. In mice, null and hypomorphic alleles cause retinal degeneration similar to human LCA and RP, respectively. Thus these mouse models represent two ends of the disease spectrum associated with AIPL1 gene defects in humans. We evaluated whether adeno-associated virus (AAV)-mediated gene replacement therapy in these models could restore PDE biosynthesis in rods and cones and thereby improve photoreceptor survival. We validated the efficacy of human AIPL1 (isoform 1) replacement gene controlled by a promoter derived from the human rhodopsin kinase (RK) gene, which is active in both rods and cones. We found substantial and long-term rescue of the disease phenotype as a result of transgene expression. This is the first gene therapy study in which both rods and cones were targeted successfully with a single photoreceptor-specific promoter. We propose that the vector and construct design used in this study could serve as a prototype for a human clinical trial.
PMID: 19710705 [PubMed - as supplied by publisher

I haven't had time to do much research and we have not met with the specialist to go over the results yet, but so far it doesn't look like he is going to have any other life altering disabilities due to this abnormality and one day, God willing, he may have a chance to have surgery that would give him at least partial vision. It's funny, I'm really ok with him being blind, but at the same time, so happy to find out there is a chance, even if it is far away, that he may one day be able to see. So for now we are praying that this is the correct information and that the research will continue to move forward. They are currently only doing gene therapy on the 1st of the 4 genes.

Thursday, March 4, 2010

Lightbox therapy

     I keep taking my camera with us when we go to CVI, hoping to get some pictures of Myles while he is "working" with his teacher. She is visually impaired also. He is doing really well, it amazes me sometimes. Some people never realize that he is blind and if you tell them they look at you like you are crazy or wrong. He gets around incredibly well and at times he really appears to see things. 
     The first time we ever went to CVI, we didn't realize that a lot of the people who work there are blind or extremely visually impaired. There are different levels of blindness. They actually have the halls lined with images of what people with impairments are able to see. I am fascinated by them. There are even several blind artists. Some people can see only light. Some can see light and reflection, some light, reflection and movement and so on. It's like a spectrum from no vision and complete darkness to normal vision. Myles is at the end of the spectrum. He see light, some form if the contrast is good, some shape or form and movement in contrast. He can put his face in direct light and seems to enjoy the sensation, it would hurt your eyes if you have normal vision.  Any way the first time we went, we did not realize the secretary was visually impaired. She looks at you like she sees you ( Myles is learning to do this) and she cocks her head and makes expressions which most blind children and a lot of blind adults do not do. This is because from the age of 18 months on most of a childs learning is visual. You mimic others. You mimic their expressions, the way they form words ... If you never saw anyone wave goodbye, how would you know to do it unless someone took you hand and showed you how. So, we did not realize she was blind and did not know until Aubrey answered her by nodding her head. After a minute the girl said, "if you answered with a nod, I can't see you. Could you speak verbally please?" She can't see your face, but with special glasses that have yellow lenses and a very large screen computer with words in high contrast she is able to read small amounts of text and type entries into the computer. So who knows what Myles will be able to do if he doesn't loose all of his vision. That's what the diet is for at this point, to help him retain what vision he has and keep his eyes healthy. They are so lovely and this disorder he has can sometimes cause whitening of the eyes due to the retinal nerves dying because it is degenerative. It's a small thing and maybe a little superficial ,but if they don't turn white he may not have to keep sunglasses on. Most people with this disorder do that, not for themselves necessarily but for the comfort of others. People find it disturbing and react to it and the blind person senses it. Any way I haven't been able to take pictures the last several times that I have tried because he is being very clingy and cries when the teacher takes him to another room. He isn't comfortable with the other kids because he doesn't know them and for every child there is an adult teacher/guide to help them. A couple of the teachers are very loud and it scares Myles. Which is pretty funny considering how loud he is. It takes a while for him to warm up and let her work with him without tears, so I will keep trying. Maybe next week I can get a few. 
      In the mean time I took the ones posted while he worked with the lightbox. He loves the lightbox. He puts his face right on top of it. We are only working with a few shapes and colors to start with. He can discern between two orange circles, a green circle and a red triangle. He will bring each one to me when asked. I really didn't think he would be able to do this but he can. It's so amazing when he can do little things like this. We are also working on stacking blocks. We tried to introduce pictures to him but he either wasn't able to see the image or just didn't understand the concept. I think the image was too small, so I may get some overhead film and print my own in a much larger image to see if he is able to do it. It was a picture of a banana and then she also used a real banana. The idea is to increase his vocabulary and help him to understand an object in a two dimensional  way.  Later, if there are any communication issues, he can point to which thing he wants and he can do matching and set skills that he will need in school. This will also help him if he is able to use technology in order to read in the future. He will still have to do braille. It is faster and he may loose all of his sight, but they want to prepare him for any eventuality. They are wonderful and do an incredible job. I would have no idea what to do without there help. It's all about teaching him to use the vision he has as much as possible. As well as leaning to use his other senses to make up for what he can't see.
His behavior has been getting better. He stayed here all week last week and most of the week this week. He went home yesterday. He has not been screaming as much and the eye poking has decreased significantly. Now if I could just get him to stop grinding his teeth. Boy, I hate the sound. He now does it if he is stressed, like at CVI when he was upset or when I am rocking him to sleep at nap time. I just put him down at bed time but at nap time he still comes and gets in my lap to be rocked. He also seems to do it when he is bored. So I try to redirect his attention but saying something to him about it just seems to make it worse. Just one more Autistic like symptom on the list. Maybe it will only be Aspergers its hard to know at this point because the vision issues can cause some of the symptoms.

Saturday, February 20, 2010

Say it again... and again...

I kept Myles most of the time this past week. There was a lot going on and it was just better for him to stay here. My husband was out of town and so it was just me and the boys. Cyan is 14 and pretty much hibernates in his room most of the time and we didn't  have school this week due to winter break. It was a hard week and I was exhausted and ready for a break, but I have to say that after the first couple of days he wasn't screaming as often and seemed to be much better behaved. I really think that he just needs more consistency and an intensely structured routine in order to get his behavior under control. The problem is that he is going in so many different directions it is almost impossible to keep things consistent.  He is spending the weekend with his dad and so I am sure that Monday will be a "start again" day. Daddy loves him, but it is very much a lets just play and have fun situation when he is with him. Maybe this weekend will be different. Mom and dad are tired of me stressing structure and schedule so they just tune me out now for the most part. I get the "I know, I know, keep him on his schedule"  whenever I try to remind them. There is also the "keep him on his diet and don't forget his vitamins" reminder. I feel like a Drill Sargent sometimes or maybe a broken record is a better reference. And then of course there is me telling Myles over and over again throughout the day, "please don't poke your eyes" and "please use your inside voice" or "please don't scream Myles". Now he has begun to put his fingers in his own ears before he screams. At least there wrong with his intelligence. He also learned several new phrases this week, he had now added to his repertoire, "go night-night" and "good job".  But his favorite repetitive phrase is still "go outside, go bye-bye" he says it 20 or more times a day, over and over and over. So, I guess we are both broken records. LOL! Maybe it will warm up soon and we can spend more time outside and he can scream to his hearts content or till his voice gives out, whichever comes first.