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.

Thursday, February 4, 2010

Arggggghhhh!!!!!!! The Screaming.......the poking!!!!!! !

I may loose my mind. My grandson screams. He pokes his eyes incessantly and he ignores all my attempts to correct these behaviors. We go through phases. I get him to stop poking for a little while. Later, I get him to stop screaming for a little while. Then something will happen with his schedule or maybe nothing happens and he will start it all again. He has been screaming all day, every day, all week. We went to CVI on Tuesday and he screamed almost all the way there and then again almost all the way back, that's two hours of nearly non stop, ear piercing, high pitched screaming . He also throws things, hits, pinches and just generally behaves in a way I can only describe as "Helen Kellerish" It reminds me of the Helen Keller, pre-teacher that I read about when I was a child. It made an impression I guess and when he behaves this way I start gritting my teeth and trying every way I know to make him stop and get him under control. It usually goes better than it is currently going. My nerves are shot. My head hurts constantly. I have no patience.
During his non-screaming phases he only screams in unfamiliar situations like restaurants, stores, malls, anywhere there are people of course. When you look at Myles you can't immediately tell that there is anything wrong with him and people think, well I don't know what people think but they get angry. They are rude, they make comments, they tell us to control him. So, needless to say I don't take him out a lot. It is just too stressful. I have a lot of experience with kids. I have raised two kids and nearly a third. I have had a foster child. I ran a daycare/preschool with 60 kids, I worked in the school system for years, I worked in an alternative school for years, etc., etc., I love kids of all ages and I normally have an abundance of patience. But I can't control the screaming. He will not respond. I try to be very consistent. I try to be very calm. He will not stop. It is soooooo frustrating I am really pulling my hair out.
We worked very hard on it and he had stopped doing it at home and in the car for the most part for quite a while but since Christmas he has gotten increasingly worse. I really do know why. My daughter and her husband are getting a divorce. His whole little world has been disrupted and he is out of sorts. I just wish that I could get him to a point of feeling more secure so that he would stop because it is so hard to deal with. I can't go anywhere. If I try to talk on the phone the other person says "oh dear, I guess I'll talk to you later ", I don't blame them of course. If I could hang up on it I would too. On top of this he is poking his eyes until they are bruised. This stresses me out because it can cause damage to his eyes. Nothing I say or do will make him stop. Sometimes I just have to hold him and hold his hands down for extended periods of time until I can get him to focus on something else. So what is the point of this post you ask? I don't know really. Just a release of frustration I guess. If you have any ideas of course I am all ears. At least until I go deaf or insane.

Wednesday, January 27, 2010

Forks and Spoons

So for months now I have been trying to teach Myles to eat with a fork or spoon. Some days are better than others, some foods easier of coarse. He can get mashed potatoes on the spoon and in his mouth at least 1/2 the time. We're still trying to come up with some sort of workable plan for potty training. I don't really want to do diapers for years and from what I have read and been told that happens a lot with children who are severely visually impaired. We're trying to figure out a way to incorporate lights and sound but I am still at a loss as far as actually making a plan.

Myles won't wear his glasses at all now so I don't know if that means they are no longer helping or if it is just a two year old thing. He keeps breaking them and I can't even keep them on long enough to read a book to him. So his vision may be declining. His nystagmus is worse lately and I am having to remind him more and more to use his eyes too, not just his hands. When he does actually look at something he puts it very close to his eyes and says "hmmm"or"ohhhh" so , he still sees something.

We are working on Braille readiness. So we are trying to learn top, bottom, and sides, and to run his hand from left to right across the page. He loves the feel of paper, thank goodness. My son and daughter both have sensory issues with paper and I was worried that he would too. We have been encouraging him to touch it and play with it since he was 8 months old so maybe that has paid off. He still hates the feel of sand, rice, coffee grounds and grits. So I am temporarily out of ideas for the sand table play. We are supposed to hide things in one of these boxes of sand, rice, grits or coffee grounds and let him "discover them". He just refuses to put his hands in it. He will stick in one finger then pull it out and wipe it on his shirt repeatedly. As with most two year olds the things I want him to touch and play with he won't and the things I don't want him to touch and play with he goes back to constantly. The joys of the terrible twos!

Saturday, January 16, 2010


We heard from the doctor from Emory yesterday. Unfortunately Myles does not qualify for the Gene Therapy that we had been hoping for. They said that the reason the testing is taking so long is because the mutation he has is more rare than we had imagined. Apparently they don't know much about this one and we will have to wait until they are able to complete a full breakdown of his genetic profile to find out what the other effects of the mutations will be. So it is news and no news at the same time. More waiting, more wondering, more confusion and the only new information really is that he does not qualify for the surgery that might have helped him to see. And so we keep waiting...
...and praying, and doing what we can through diet and therapy.

Sunday, January 3, 2010

Still waiting

We are still waiting for genetic testing to come back. I has been about 9 months, I think. Myles has not been doing great on his diet over the holidays. Well that's what New Year's Resolutions are for!