Category: Health and Wellness
Hi. I'm wondering if any of you have Lebers Congenital Amaurosis and if so, are you involved in the genetic research that's going on.
My grandfather's eye doctor is apparently acquainted with one of the doctors doing the research and since I have LCA, they want me to get tested to see if I have the gene they're currently working on. Apparently, they're having success with medication. I have no idea what they define as success but whatever.
I'm scheduled to meet with a genettisist at the end of July. I don't really know what to expect. I'm not overly optimistic because there are so many different genes that cause LCA. I really don't want to pay $2500 to chase rabbits down bunny trails but on the off chance that there is hope, I can't just blow this off.
Anyway, if you're involved in this, have your experiences been positibe? Is there any advice you'd give to someone new to the process?
thanks.
I have LCA and would like to participate in this research. Can you provide a link to it? I tried joining Project 3000, but it appears to be out of funding or under-funded. The site looked as though it hadn't been updated for 3 or 4 years.
I will be more than happy to do so as soon as I find out something concrete.
Basically what happened was my Grandfather went in for an eye appointment. My mom and the doctor somehow got to discussing my LCA. He mentioned that he had a friend working on that research and called the guy. Then they had a nurse call me from his office with a recommendation for a genetitisist. Honestly, none of the people with whom I've talked seem to have any clue what I'm talking about so it's a bit overwhelming, especially with the potential cost.
I'm going with my grandfather for his next appointment and will likely set up a visit with his doctor just to get fresh eye-medical info as it's been many years since I've been checked out.
From what I've heard, the research is currently closed but they're having success with medication in trials with people who have the RPE65 gene. There are several different genes involved in LCA so they're only looking for RPE65's. Hopefully I'll be one of those.
When they open it up for stage 3 trials, I'll likely be brought in if I'm an RPE65.
Sorry I don't have more info but when I get something, I'll definitely post it here.
Thanks. I also have know idea which LCA gene I have. If you end up with some researcher's phone number/email address and would rather send it to me off list feel free.
I also have LCA, so I would be interested in any info whenever you can find it.
Here's a little update.
The doctor doing the research with whom I'll be working is David Sapperstein. He's based out of Bellview, Washington and works with Foundation Fighting Blindness.
I'll know more once I've met with my new local eye doctor and then the geneticist at the end of the month.
If you do a google search on Dr. Sapperstein, you'll find a 2010 article stating that participants in the drials of an oral medication for people with the gene RPE65 have gained visual field and accuity and have experienced improvements in quality of life.
That's about all I know for now.
I have LCA as well. I would be interested on more info when you get it. Good luck.
Hmmm, improvements in quality of life? LCA isn't something that causes significant health problems, at least not according to anything I've read about it. But I think I'll look at this guy's research and see what it's all about.
I think improved vision would grately improve my life. lol especially if I got enough to drive. I'm not overly optimistic about that but it's worth checking into nevertheless.
I see what you mean. It just seemed an odd way to word it to me.
I have LCA, but I'm not sure what gene I have. In fact, my limited knowledge of my own eye condition and the research about it is a bit sad. Haha. The aspect of it that's always confused me is how it's acquired and passed on. I guess I've never been good at genetics. But we don't know of anyone else in my family who's had LCA, and I haven't found any information that makes sense to me about the likelyhood of my passing it on to my kids. A friend told me that a combination of genes from both of my parents may explain why I'm the first in the family to have it and that I'm a carrier and as such could pass it on. Does anyone have any further insight on that?
Becky
I have the same questions as you do, as I'm also the first in my family that we know of to have it.
Hi there.
First of all, don't feel bad about not knowing about all the research going on. I had heard about it a while back when doing some research of my own but really didn't persue it. I've always just figured that I'm blind and that's just how it's going to be so never really bothered.
Running into this opportunity was simply by chance, or God.
Anyway, I am the first in my family to have it as well. Apparently it's a recessive gene of which both parents must be a carrior. That's about the extent of my understanding of the scientific aspect.
My son does not have it.
I have LCA myself, and I am also the first person in the family to have it. I'm not sure what gene I have, as there are quite a few genes that can cause it, as others have already stated, but I did some reasearch on it a few years back and found that doctors were isolating the RPE65 gene. Apparently it's the most common gene out there that causes Leber's. I'm not sure I'd want to be involved in this research, considering I have been blind my entire life. I'm absolutely content with not having sight.
I met with the geneticist today. Next week, my mom, dad, and I will have blood samples drawn and sent off for testing. At the eye doctor a week or so ago, they took photos of my retnas and sent them to the doc doing the research. They said they didn't see anything that would not be consistent with RPE65 LCA. I thinnk it'll take about 6 weeks to get the preliminary results of the phase 1 testing. It's $957 and if they go to phase 2, it'll be an additional $1377. I really hope they find the RPE65.
We'll see, I guess. If it's meant to be, it will be.
I'll keep yall posted.
Thanks!
Oh yeahkh, the researcher with whom I'll be working is Dr. David Saperstein out of Bellview Washington. Hope that helps. My lab work will go to the Carver institute.
wow. sounds like all the people with lca are really similar. I have lca as well, and my situation is like all the rest described here. I'm the first one who's had it in my family, and nobody seems to know much about it. I've done internet research on it, so I've learned what there is to know, but still doesn't seem like much.
Let me know what you find out.
I am actually the second in my family to have it. My older brother and I both have Leber's and Aspergers. My younger brother is sighted and normal. I have no idea which mutation we've got, but I've been told it's so rare that the doctors couldn't find enough samples in the U.S. My goal is to find out. I also would like to know if Leber's people are born with other conditions more often than people without Leber's and, if so, which conditions.
I don't know about secondary conditions. I think there are some other health issues that go along with it but since I don't have any of them, I could be wrong. It just seems like I heard that a while back. I used to belong to a group on yahoogroups for families with LCA. They seemed to have allot of information.
My labwork has been sent off to the Carvor lab but they said it would take 4 to 5 months to get any results. Guess it's time to hurry up and wait.
So, I got the results today and they weren't what we were hoping for. I have the CEP290 gene for LCA and not the RPE65 on which they're having most success with vision improvement.
Oh well. Such is life There goes a thousand bucks.
I'm bummed but mostly pissed at myself for even going there. I should have just left well enough alone, and saved the cash, and a year of pointless hoping.
Oh well. At least we know now.
The thing that pisses me off the most is how disappointed I am.
I was in your position a few years ago. Flew to LA for the LCA conference just to get tested after being led up the garden path by the doctors in London. I was very, very angry and upset about the whole thing. Still, SEP290 is high on the list of those coming nex,t or so I've heard.
LCA conference? Never heard of it.
I'm an LCA myself. I was approached by some doctor years ago; he actually drove four hours just to test my entire extended family's blood. He said he'd keep us in the loop, even if nothing was really happening. Never heard from him again. I don't think these lab dwellers realize that we're people, with hopes, and questions, and a desire to know what the hell is going on. Send out a mass email or something, it isn't bloody difficult.
I also have LCA. Blood samples were taken from my mother and I in April 2007 when I was 16 years old by a lebers specialist. It took so long for the results to come back I forgot about them for a while lol. August 4, 2009 I was given the results. Lebers CRB1. Something inside of me died that day. I realized then and there I may be visually impaired for the reast of my life, and that I needed to prepare to live the rest of my life that way. I had so hoped I had RPE65. I hear CRB1 is the one at the top of the list after RPE65, but I'm not holding my breath for a cure. I'm ok with being the way I am if no cure ever comes. I would sure love to see my kid's faces though with no visual limitation.
Like many of you in this thread, I'm the first one in my family to have it. I know some forms of Lebers come with kidney issues and cognative impairment, but not the form I was diagnosed with.
I never even got results. I'm not overly fussed; I'm not unhappy the way I am, but it would have been nice to know, and it would be beneficial if they can keep this from happening to others. LCA can, to my knowledge, cause other problems besides vision loss, or perhaps it's the gene...I'm not sure. All I know is that the doctor who tested my blood told me I was fortunate not to have experienced more serious medical issues such as heart problems and the like.
Apparently the one I have, Cep 290 is most associated with kidney problems and other sindromes that just sound aweful. I guess I got lucky though because other than visual impairment, I don't have any significant problems like that. I've never heard of crb1. Sorry you didn't get the results you wanted either.
Meg have you tried calling the doctor back? She said she'd call me with the results, but she didn't I ended up contacting her and she said they'd been back for a few months before I called. Domestic I'm glad you don't suffer from more severe issues too. CRB1 is apparently ascoiated with the gene that causes RP as well as LCA (RP is one of the leading causes of childhood blindness) so it's high on the interest list. If I get the cure in my lifetime so I get to see my kids fulyl and my future grandchildren fully, then great. if not that's ok. I guess the day I got the results I lost all hope, but I'm ok with it.
Hi John and Buckeye
Aww sucks typed in the wrong box above and there's no way to delete it. *Slinks away* oooops.
hahah thought that was sort of random.
I'm sure we called him back at some point (mind you this was years ago) but i wouldn't know how to get in touch with him now even if I really wanted to. I'm not fussed, like I said; I'm not really looking for a cure for myself, I only want it prevented in future.
Sorry I'm late back on this, but the LCA conference happens every two years I think, and is run by the Foundation for Retinal Research.
Is it this summer?
There's one this summer, yes.
I was recently was tested to see which type of LCA I have. I have CEP290, and thankfully only have my eyes effected by it. I feel better knowing what I have, as it helps me to better understand what I am dealing with, and what sort of treatment I will be in need of.
Living in Canada, the testing was free for me, as we have universal healthcare. I feel your frustration about having to pay $2500 - that's a big chunk of change. My hope is that tests whihchwe have submitted may help to find treatment in the future.