Just want to say hello and introduce myself. I found this site while searching information about gyrate atrophy. I am 24 and I was diagnosed when I was 5. I see doctors at NIH, although sad to say haven't been for a check up in quite awhile. When I was first diagnosed I was put on the low protein diet but I am no longer on it. I recently had a son and I am trying to find out how soon it can be detected, guess I should give doctors a call at NIH. Would love to talk with other patients and family members, to learn more and also to share what I know. Hope to be chatting soon. -Lesli

Hi Lesli, When my son's were diagnosed we couldn't even find gyrate atrophy on the website for rare diseases. We felt like we were the only ones in America. It's nice to find out about more people. Congratulations on the birth of your son. I imagine his pediatrician doesn't have many answers about Gyrate Atrophy. I like my general practitioner, but it's out of his realm. What made you quit the diet? I imagine it wouldn't be a healthy diet for pregnancy. How is your sight? My oldest son's retina specialist said that he would like to see us yearly. Is that about the frequency you went? What do you currently do for your GA? Thanks for joining and sharing. Jen

Lesli, Welcome to the group. Congratulations on the birth of your son. I would definitely give NIH a call, they would be able to give you an anwer. I have briefly discussed this with my daughters geneticist. Wondering if it would be detected at birth like PKU or CF. My neighbors son had a false positive with CF just a few months ago and we hav family history of CF, so I was curious. They keep adding new newborn test every year as CF is a relatively new test for new borns in our state. My daughter was originally diagnosed with RP in Feb. 08, almost one year ago and then at her 6 month retina appointment her specialist decided we should do some bloodwork to rule out GA. Her ornithine levels were above 1,000. She refused to do a genetic test at her last genetic appointment 2 weeks ago. We did not push it. Her levels are currently at 432 with her diet modifications. She is currently taking vitalfo, which is a relaively new product and Rachel feels it is a lot more palatable. We tried Cyclinex in the beginning and failed miserably. She is suppose to stay at 15 grams natural protein and 20 grams vitaflo, but we still have a lot of cheat days. She is a small 11 year old at a wopping 68 pounds. How is your vision today? We go back to the retina specialist next month and I am curious if he can see any visible change. Rachel says her eyes are fatiguing a little more often, but that could also be the level of books she is reading. Thanks for posting and welcome, Missy

Hello Jen, Thanks for the reply. When were your sons diagnosed? Are they patients of NIH? When I was first diagnosed I was 5 which was in 1990 so you can imagine how little information was known. In fact when I was diagnosed there were only about 100 known cases. I am not sure what the number is now but I know it's not many. When I was first diagnosed I was put on the diet. It was extremely tough and I only lasted on it about 3 years. My parents deceided that at the time the diet just wasn't working for me. From my exams no major changes were found in my eyes from being on the diet as apposed to not being on it. Since the diet hasn't really proven to "cure" GA I have chose not to restart it. When I was first diagnosed we were making trips to NIH 2 times a year. As I got older the doctors cut it back to once a year. Then in '98 my father was diagnosed with stage 4 lymphoma cancer, so as you can imagine that took priority in my family's life. He is in remission now and doing great. It wasn't until 2002 that we were able to make a trip back to NIH. At that time the doctors saw no changes from when we were there in '97, so they said we could start coming every 2 years. Well I graduated high school, then went to college and again the checkups took the back seat. I have still followed up with my local retina specialists. My vision (nearsightedness) has remained the same since 2002, but I have developed cataracks. The cataracks have remained the same and are not severe and are not causing me any major problems. My night blindness seems like it is getting worse. I am planning to schedule an appointment with NIH as soon as possible. I am currently not doing anything for my GA. I have never let GA get me down. The way I look at it I am extremely healthy I just have bad eyes! My mom worries especially with me driving, but I tell her if I had never been diagnosed I would have never known anything was wrong with me. To me I see normal. I know that I can't rely on my periphial vision when driving; thank goodness for mirrors! Hope to be talking to you again soon. -Lesli

Hi Missy, Thanks for the message. It's nice to have people to talk to about GA other than the doctors. Is your daughter a patient of NIH? I answered your question about my vision in my responce to Jen. There have been many times over the past years that I have thought my eyes were getting worse, but the doctors have always proved me wrong. I just went to my local eye doctor last week because I thought my eyes and/or cataracks had gotten worse because I had noticed a definate decline in my night vision, but the exam proved me wrong. Everything still looks the same. My doctor said that most likely my night vision is worse because of the combination of GA and cataracks. Just means less driving at night and more night lights around the house! Hope to be talking with you soon. -Lesli

Lesli, My oldest son was diagnosed in August of 07. He had gone to get his drivers permit and had a lot of trouble with the eye exam. He got his permit, but with restrictions for mirrors and such. We followed up with an Opthalmologist who talked about his subcapsular cataracts, but then went into the exam and said that there was something very unusual about his retinas and two days later we were in a retina specialist office. He did the diagnosis, examined all of the family. Our two youngest children were only 3 and 5. He was always supposedly trying to get us in with IU med center. In December I gave up on him and went through our Opthalmologist. Rick went through all the tests, pictures again of the eye, and an erg which was flat. I asked about my young children and he said to have them blood tested. Andrew showed up positive. He hasn't seen a retina specialist yet, and we're actively searching for someone within driving distance, but not the same Dr. He didn't have the personality for adolescents let alone young children. I've been researching on medline and someone has done studies on identifying this disorder during pregnancy. I think your son could be tested, and probably really should be if he's on formula. If he did have GA they would use a protein free formula. If you nurse, from what I've read, you would be able to continue. They've told Rick he should never drive at night, but he insists he can see. I've ridden with him many times. My husband thinks that Rick sees better than he does at night. It really is a worry. I don't want to limit him before it's really necessary, but I never want him to get hurt or hurt someone else because of his eyesight. When he checks his blind spot he practically turns around in his seat. I know he makes accommodations. Thankfully he is not a speed demon like some young drivers. I know some of my other children pushed that too far. When you said that you hadn't been to the doctor for awhile, I figured that it was your age. I know after graduation routine doctor and dentist appointments didn't happen. I'm glad that your father is doing well now. I know how things take a back seat. I have 9 children. 3 are out of the house, 1 away at college, and 5 at home. All the kids have asthma, and it probably seems unbelievable to the doctors, but sometimes you fall asleep or they fall asleep and they don't get their medicine daily. It happens. Andrew also has lazy eye we're supposed to patch at least three hours a day. It happens on school days, but snow days or weekends it often gets overlooked. When you did the diet who oversaw it? Someone from NIH? Do you remember much about how many grams of protein you were to have? Did you do a replacement shake? My boys don't, and it seems like most do. I worry that I'm not doing the right things. Welcome to motherhood!!! It is so awesome, but forever more you'll be wondering if you're doing the right thing for your child. Your attitude toward this is wonderful, was it always that way? Did you find it a heavy load during your teen years? I hope you don't mind all the questions. I'm thankful you found this site and were willing to post. - Jen

Lesli, It is nice to have people to talk to about GA other than the doctors. We are not seen by NIH. I am starting to wonder if I should give them a call though. I think the last documented numer of GA patients was 150 with 70 patients in Finland, but that was stated in an 2003 puplication. I think. Even if your eye exams say your eyes are not getting worse, you know what you are experiencing. Rachel went to a low vision specialist and they test you on real life situations, like how you sit and read a book. What would help you see better? White light and yellow overlays seem to help Rachel with fatigue, if she uses them. Because of the reduced field of vision the eyes are working much harder and fatigue easily, which isn't picked up in an eye exam. I know with RP patients, there is sometimes a noticable change with pregnancy. I will not duplicate any of the questions that Jen had, but motherhood is wonderful and you never stop wondering if you are doing what is best for your child. How old is your son? I wonder how long Rachel will be able to keep up with her diet and when/if she will continue when she is off to college or on her own. It is positive news to hear your eyesite has stayed the same since 97, except for the cataracks. Is there anything they can do for the cataracks? Lymphoma is a hard disease, I am glad he is in remission. I have ran a few marathons for TNT, trying to get back on the running kick, but it is hard with 4 kids. Were you part of any of the GA studies? You have a very positive additude. Keep it up that is very important. Thanks again for sharing your experiences, Missy

Jen, I know what you mean about seeing a retina specialist that doesn't have a good personality. I saw one here locally when I was 18 and he told me in his opinion I wouldn't be driving much longer, well 6 years later here I am still driving. What did he know? After that I chose to never see him again. The doctors at NIH are great. I highly recommend NIH. They've got specialists in the eye clinic that their primary study is GA. I haven't been told not to be driving. My mom, like you, worries all the time. Your husband is probably right. I know you don't want Rick in danger or possibly putting others in danger, but I am sure Rick is like me he knows his limits. Anyone behind the wheel of a vehicle has to be careful, we just have to be even more careful. I know my limits and I don't push them. I'm sure RIck is the same way. It's scary, yes, but you have to remember to us we see "normal." I imagine that Rick is extra precautious, like myself, and he won't do anything to put himself or others in harms way. I explain this to my mother all the time. Unitl I know I shouldn't be driving or until the doctors tell me I can't, I'm not going to stop. Driving is an experience and privalage that every able young person needs and should be able to experience. The doctors at NIH are the ones that monitered the diet. I was limited to 15 grams of protein daily. I didn't have any replacement shake, however I did have to take pills. I don't remember what all of them were. I only remember calcium. Yes I've always had this positive attitude. I look at it this way there are a lot worse things that could be wrong with me. I look back over my childhood and teen years now and I don't really remember ever feeling like it was a heavy load. I do however think that knowing I had this disease I held myself back from certain tasks, sports inparticular. I feel like if I had not known, or if a big deal had not been made of it I would have tried harder at these tasks. Having everyone tell me that I didn't see normal I felt like I couldn't succeed at these things, but I now know that I could have if I would have just tried. I have decided that if my son, Dixen, does indeed have GA I am not going to make a big deal about it. I'm not going to try and hold him back or limit him from trying to do things. If he does have it I plan to not explain all the details of GA to him until he is older, so that he won't think the way I did and not want to try. I don't mind all the questions at all actually I like sharing my experiences. Look forward to more conversations. -Lesli

Missy, Like I told Jen if you are not already being seen at NIH I highly recommend it. Dixen, my son, will be 7 months old this Friday February 6. They could remove the cataracks but they haven't really gotten bad enough for them to really want to worry with them. I really mainly only notice them at night if I am driving. When I was first put on the diet it was a study at the time. Being a patient of NIH you are part of studies another reason why I need to go back. Actually I am planning on calling the doctors up there possibly this week to see about scheduling an appointment for myself and to see about getting Dixen tested. I have always tried to keep a positive attitude. I agree it is very important. At least I can still see, maybe not the best, but it's better than nothing. If I do loose my sight one day at least I have been blessed with many years of being able to see the world. Some people never get that. But no matter what happens I will stay strong, it could be a lot worse! Hope to be talking with you again soon. -Lesli

Lesli, I wish that I could get Rick to talk to you; however he's a guy and he'd rather not talk about it. He says he's not going to worry about it until he's blind. But he can't imagine living his life without his eyesight. I've told him that you were 24 and haven't had a lot of vision changes. Right now at our community college he's taking a welding class. His first career choice has always been a heavy equipment operator. He also is considering heating and air. My husband is very talented mechanically and craftsmany.(don't think that's a word) Combine that with a large family and my husband has done every home improvement in our house. (with Rick beside him) He and Rick just installed a wood burning outdoor boiler. Rick played a major roll in the plumbing and wiring of the pumps. Our metabolic Dr. told him that he should probably have two career plans. His first choice, and one that he could do without his vision. We haven't found one for that second condition, but I also think he's too young to decide that. I think we let him follow his dream and then as he matures and his sight changes he can make those adjustments. I wish that the margins were wider on this site. We're going to need to make a new topic. It's good hearing from you.- Jen

Jen, Sorry for the delay in my response. I am sure you understand having a 7mth old really keeps you busy! I understand how guys can be, but I would be glad to talk to him if he is ever interested. Honestly though I feel the same way he does about not worrying about it until he is blind. I mean I know it's a horrible thought, but it really could be worse. I am just thankful for everyday that I can see, although I may not have the best vision at least I can see for now. Sure my nearsightedness is horrible, it is -10, but it has stayed that way for several years at least since '02 maybe longer. I take one day at a time and live life to the fullest. It really could be worse; we could have some sort of disease where we were in severe pain all the time. I agree he is too young to have to make a decision on a career choice for when he looses his vision. I agree he should follow his dreams. Who knows he may never have to even have to have a second career choice. I know in the back of my mind that one day I may very well be blind, but I can't worry about that now. Life is full of surprises; there may be a cure tomorrow! If you would like to email me my email address is 88amp@comcast.net. Hope to hear from you soon. -Lesli