For folks, that happen to find this group, please know there is a new nonprofit that is raising awareness and fundraising for GA research. You can find the group here https://www.gyrateatrophy.org/. Please join, share your story and help spread the word. 

Also, there is a GA Facebook group, https://www.facebook.com/groups/312246252579381 but most of the discussion is in a chat which you need to be invited to. You can post in the group page and we can add you to the chat, which includes patients, parents and families members across the world. 

All the best, 

Sean 

Hi Karabi, 

This is not a very active group unfortunately as you can see by the slow responses or no responses... I am 39 years old and was diagnosed when I was 14 at which time i did not follow the diet well. Right now I am more or less on track with diet and regular doctor visits with local doctors at Inherited Metabolic Deceases Clinic. I am a bit old fashioned in tracking my daily protein, i simply use paper. I could not find an easy to use phone app for myself. I basically write down protein amounts for foods I eat either from memory (for more common and frequent foods) or from the food labels. If you had any specific questions, I can try and answer them for you and your daughter. 

I am not aware of anything related to GA and gene therapy. 

On the other hand, I had a question for you. Was it recently that you went to NIH and Dr Valle? i was seeing them many years ago, probably last time was in 2005 and I thought both programs were closed. Is that so or are they still seeing patients currently? 

Thanks. 

Anna

Hi,

I just joined this group and am happy to find some fellow travelers. My daughter is almost 20 and was diagnosed when she was 16. We were at NIH for a while and now are seeing folks at Hopkins including Dr Valle. She has really struggled with the diet, especially how to track it. She was using the weight watchers app to get the protein levels but then just using a note to add them up over the day. Does anyone have any tips on how to track the protein preferably on a phone?

Second, can anyone share any information on gene therapy? I know it has been approved for some diseases but GA isn't even in the pipeline as far as I know. How could we advocate for that?

Thanks!

Karabi

Hi Missy, 

I have not logged in here for a while and maily because this group has not been very active. I am 38 years old and was diagnosed when I was 14. If you or your daughter would like to talk, I can try to find some time. I can share my diet regiments if you would like. I struggle from time to time, especially having a family and 2 kids.... :)

I was just reading one of your posts ""Another family is going to Finland to see a genetic specialist"" - do you have any information on the doctor or clinic this family is going to see or have them gone yet? From my knowldege, Finland has the biggest number of GA cases in the world, so perhaps they might be doing more research than here in US. 

Thanks, 

Anna

Sean,

Thanks for the note.  I know the diet is hard.  I try not to push, but it is hard to see her struggle with energy levels and I believe if she took the EAA suppliment she would feel better.  She has been vegetarian for about 5 years. 

i remember chatting with you via email when Rachel was first diagnosed.  I will give her your email and if she decides to contact you than great.  I have ran a few marathons in my younger years for luekemia research and the cystic fibrosis.  I would love to start a fundraising group just for GA.  

I lady from Potland Oregon just contacted me.  She was original diagnosed with a different eye disorder.  She will be traveling to visit with Dr Valle in the fall.  Hopefuly, i will be able to go up and meet her.

Have fun traveling the world.  

Missy

Hello, 

I have GA and would be willing to speak to your daughter if she is up to it. I am 35 and was diagnoised when I was around 12. I can definitely relate to being done with doctors and diets. To be honest, I still struggle with diet. I try to be vegeterian mostly but I am not following a strict diet or taking any supplements though I should be. I grew up in Boston and saw Dr Berson at Mass Eye and Ear. I have been living in San Francisco for 10 years and seeing Jaque Duncan at UCSF. I developed cataracts about 2 years ago but we are currently waiting until they progress further before having surgery. I got a sabbatical from my job last year and I am currently travelling in Latin America while I still can travel independently. I stopped driving at night due to vision loss but luckly still have pretty good central vision. 

Not sure best way to approach your daughther or get her more "motivated" so to speak. I still struggle with acceptance of my vision loss and acceptance is definitely a moving line. Some days are better than others. Too be honest, I like to think that GA made me appreciate life more because I know one day I might not be able to see the ocean, a sun rise, mountains, friends, family, etc and I try to appreciate life moments and take it all in. But that is also coupled with the thought if I am going to go blind whats the point of following the diet and I should just live my life to the fullest while I can and deal with "it" the blindness later. It can be a tough burden for sure but overall I am still pretty positive with life but struggle with following a strict diet. I share these personal thoughts to maybe help you understand what your daughter might be struggling with but we all deal with it differently and she could be in another space. I did see a vision loss therapist for a bit. It helped to vocalize some of my thoughts and concerns but since I can still do most things by myself I decided to stop and maybe if my vision gets worst I would go back. 

I think you added me on facebook but here is my email if you or anyone else wants to connect. seanmcgaugheyis@gmail.com

Interesting about the marathon, I am training for a half marathon in Colombia and thinking about doing the boston marathon in April. My dad ran it a few years back and raised money for boston mass eye and ear hospital but it would be awesome to find a GA specific doctor or fund that we could raise money for directly. 

Hope all have a great day. 

Sean McGaughey

Mary, Hannah, and Jenny,

I have finally been able to get back on rareshare.  I originally started this group when Rachel was diagnosed with GA when she was 10.  She will be 20.  She does have cataracks and is considering surgery, so I am very interested in this feed.  She just tried tow different types of drops and it did not reduce the swelling.  Bummer, though I am not sure she was good about daily use.  She has given up the diet. She is a vegetarian, so is on a reduce protein diet, but not a low protein diet.  She did try a mickie tube for about a year and that was helpful.  She was able to consume 20 grams of medical protein and live on about 20 grams natural protein.  I think she might go back to that when she is out of college.  

Thanks,

Missy

I have had about 

Thanks to all for responding to my question on cataracts. I was asking because my son has recently been diagnosed with cataracts. He lives in San Francisco. I was concerned he wouldn't able to receive treatment because his eyes are fragile with the gyrate atrophy. His retina specialist in Boston is conservative in his treatments. He doesn't like to risk any sight loss or create any acceleration or progression of vision loss. Sincere thanks to everyone for responding. This is wonderful news. If Anyone wants to share any other tips on diet control, formulas or great doctor contacts, it would be helpful to all to post a list. Also, my sons doctor always says to talk to all doctors, interns and residents to get the awareness and create interest in gyrate atrophy - maybe spark someone to complete research studies. Thanks again!!! Mary

Mary, I did cataract surgery in Colorado where is live. I was very happy with my doctor and the results. Which state are you in? I am assuming you would not want to travel for a cataract surgery since those are very common, you just should find a good local doctor for this. Anna

Dear GA community Has anyone heard of any clinical trials in regards to Gyrate Atrophy, I keep reading that Gene Therapy is advancing, but I haven't heard of any in regards to OAT. Hope to hear from you all

Colin, I hope all is well. I was wondering if you have been treated for your cataracts? My son has developed cataracts in both of his eyes. He is uncomfortable. Any other news or updates for treatment or research. I look forward to ant information. Sincerely, Mary McGaughey Email mary4mcg@gmail.com

I have a question for Colin on this feed. My son has had a 'Goldman visual field test' in one eye. The opthamogist has had his drivers license revoked based on this test. He is scheduled to take a 'binocular Goldman' test in the next 2 weeks - (both eyes). He is terrified to do so because it may 'seal his fate' regarding driving. It sounds like you are still driving. How is that? I am trying desperately to help him. Any suggestions? A Mom

Jen I was a vegetarian for a about 15 months but I eat meat etc now again. I've noticed recently that some sports like badminton it's harder to track the birdy. I was not one of the 5% where vitamin B6 lowered my ornithine levels significantly unfortunately. Missy I have a bunch of links etc that I will post to articles and research etc into RP and GA. (I don't have them on my laptop here). There is one company called optobioncs (http://optobionics.com/) that are studying a solar retina implant for RP patients. Balancing the diet with proper growth and nutrition is difficult. I commend you for being able to do it. I could not justify the negative health implications at the time. Perhaps if my vision gets significantly worse I might consider the diet again. In the meantime I'm hoping for a more effective treatment. I'm currently working on a project to show pictures of what I see with GA. My goal is show "here are my ERG results etc and this is what I see."

Hi Hannah My son is 19, and he was diagnosed 10 years ago. In addition to the diet, we moved away from teh Vitaflo because he couldnt stand it -- we changed to another AMino supplements that seems to work for him, and kept his Orn level at 200s. I dont login to rareshare a lot -- but if you have contact details, will be happy to chat with you and discuss further.

Welcome A, This is not an active group, but it is nice to know there are a group of people here who understand what you are going through. My daughter has GA. She is now 14 and as diagnosed 3 years ago. I think the diet is the hardest part. She is drinking Vitaflos EEA formula. She is suppose to drink 4 packets, but probably averages 1.5 packets a day. She is also suppose to take a creative supplement, but that rarely happens. We have moved and need to set up an appointment with a new geneticist and dietician. We have not checked her ornithine levels since this summer. She is hovering around 600, prior to diet is was around 1,200. Thanks for joining. There is also a small group on Facebook, it is relatively quiet too, Missy

Hello everyone! I am not sure if there are any active participants in this forum right now as the last post I read was from 2 or 3 years ago. I have been diagnosed with GA about 19 years ago, I have been on and off and back on the diet and I am currently working with my doctors on finding the best dietary approach. I am also current with my eye doctors on check ups and such. I was hoping to share and learn about experiences of other patients with GA in regards to diet, treatments, eye doctors, etc. Hope to hear back from someone soon. A.

Wow! We are a quiet group. I hope all is well with everyone and their families this winter. Just an FYI Sean has created a group on facebook, it is quiet like this group, but it is growing. It looks like we has 15 members, please introduce yourselves if you haven't already. My daughter is now 12 and her ornithine levels have gone up since summer. 350; 450; and now 650. She has just added creatine to her list of supplements because her creatine numbers are a 10% of the normal number. She is scheduled to see the geneticist next month, so i will take her to get her blood taken again soon. Hopefully the lab won't do the wrong blood tests again. Very frustrating... JenD and AHH, sorry i never responded to your emails last month or so, I was having computer problems and lost all old email addresses. Would everyone feel more comfortable to discuss issues and concerns if this was part of a private yahoo group or like forum? Trying to figure out a way we could support each other. Thanks, Missy (mom to 4, 12 yr old girl w/GA)

Ed and Nancy, Glad you found us. Rachel is 11 soon to be 12. So, Bri was diagnosed at 7? Rachel hs been on the diet almost a year. It has definitely been a rough year, changing an 11 year olds diet is interesting. We have found a local PKU family to communicate with. I think Rachel would love to hear from Bri. She feel so alone sometimes with GA. Rachel drinks 4 packets of vitaflos EEA formula, 6 grams creatine, calcium vitamins, omega 3 vitamins, and multi vitamin. She is good probably 5 out of 7 days, though this summer she has been off diet more than on. Bri's dietician should be able to tell you about Vitaflo. We see Rachel's geneticist on the 24th, so if you have any questions for him, let me know. Need to sign off for now. Leaving for vacation in 12 hours. Missy

Hi everyone, Nancy and I are parents of Bri... a 16 yr old diagnosed with GA over 9 years ago. I've sent her an invite so hope she joins the group. Like most of us, we have some good and not so good days with the protein restrictive diet - tough when you're a teenager. I saw that a couple of you were discussing emergng treatments in Europe and supplements like Vitaflo. Would love to hear what you've found... as great as the Internet is, there seems to be very little about emerging GA treatments. Thanks, hope to hear from some of you. Ed & Nancy

Were had an appointment with Rachel's geneticist and dietician. Her dietician mentioned a young boy who was just diagnosed in Mexico, but they can only email in spanish. Is there anyone on our site who could converse/email with the parents? Thanks, Missy