Mac Tel Support

This is a continuation of the discussion called "Idiopathic Juxtafoveal Telangietasis Type 2" started on July 15 2012, under the NORD Rare Disease Support Community, in the My Disease Has No Treatment sub topic. That discussion was set to go inactive and not accept new posts as of approximately Oct 15 2012.

There is also a very helpful discussion called "Mac Tel Support Links Only" on this site. Please visit it at http://www.inspire.com/groups/rare-disease-and-genetic-conditions/discussio n/mac-tel-support-links-only/

We welcome everyone, new members and old, to join our discussion. Together, we can support each other and bring awareness to the need for more information and treatments for the disease.

Sincerely,
Kim and Friends

Edited October 20, 2013 at 1:21 pm

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2,781 replies. Join the discussion

Thank you for your efforts in continuing this project.

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Thanks Kim

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Below is a link to an article published today, 10 Oct 2012, concerning another clinical trial using stem cells for retinal diseases. In this case they are using it for dry macular degeneration. I wish they would conduct a clinical trial using stem cells to treat MacTel! I checked the internet today to see if there was anything posted about Phase 2 of the Neurotech NT-501 for MacTel, but couldn't find anything. If anyone is going to see Dr Schwartz at Jules Stein in the near future, please ask him about it. Thanks!

http://www.blindness.org/blog/index.php/stem-cell-therapy-clinical-trial-be gins-with-initial-participant/#more-1639

Regards,
Marge

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Kim,
I just found an article (link below) on your original question back on 15 July 2012 about whether or not the Lucentis or Avastin shots helped people with MacTel Type 2, but who are not having leakage. One of the contributors is Emily Chew from the National Eye Institute - please see the "Conclusion" section.

http://www.ncbi.nlm.nih.gov/pubmed/22266930

Regards,
Marge

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Hi, once again I must apologize for putting so many posts out here, but I just found a website with 225 articles relating to MacTel, so please check it out. I found it by doing a search on the US National Library of Medicine website. Some of the articles at the end are old and a couple I have already posted on our discussion page.

http://www.ncbi.nlm.nih.gov/pubmed?term=macular%20telagniectasia

Regards,
Marge

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Thank you Kim and Marge for keeping this discussion open and on going. I don't really have much to add to the posts but do check daily and read all the posts. I try very hard not to give up hope as I am repeatedly told that there is no cure and nothing I do will stop my loss of sight. Knowing that others are waging the same battle as I am and reading all the different post somehow helps as I know I am not on this journey alone.
Carol

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Hi all.

I know Marge had mentioned the development of a bionic eye. To those of you that are skeptical about this prospect, I just wanted to relay the following:

My husband (who died 17 years ago) had lost his hearing when I met him. He had already done a lot of hard work to prepare himself for the worst while hoping for the best. Then this miraculous little device, known as a cochlear implant, came along. This "bionic ear" sounded too good to be true, and we didn't want to get our hopes up. Meeting with others who had gotten the implant was encouraging, so he went for it. Although of course it wasn't as good as when he wasn't deaf, it was good enough that he could even hear birds and frogs singing, although he couldn't tell you what kind of bird or frog. He could understand a lot of speech without lip-reading, and got almost 100% with lip reading.

So with all the discouraging news that comes from having a rare disease with no treatment (yet) I just want to remind us all to hang on to HOPE!

Karen

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Hi, Karen,
Yes, you are correct that we must not lose hope. They are making major advancements in possible treatments for MacTel and other retinal diseases. I am including a link to a recent article about the new retinal imaging technology called Adaptive Optics Scanning Laser Ophthalmoscope (AOSLO) that will measure outcomes in clinical trials for emerging therapies such as the Neurotech NT-501 encapsulated cell technology. They even mention MacTel at the bottom of the article. I just hope the FDA validates AOSLO quickly so they can prove the Neurotech NT-501 works on those of us with MacTel!

https://www.blindness.org/index.php?option=com_content&view=article&id=3292 :fda-grant-expands-foundation-funded-study-of-powerful-retinal-imaging-tech nology-&catid=65:retinitis-pigmentosa&Itemid=121

If anyone will be visiting one of the MacTel Project doctors in the near future, please ask them about the status of the NT-501 clinical trial (start date for Phase 2) and if they think stem cells might work on MacTel. I have faith stem cells, gene therapy or even that bionic eye implant might someday help us. I just wish the clinical trials didn't take so long!

Regards,
Marge

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Happy Halloween!

More reason for hope, I hope! In a previous post I mentioned I was experimenting with estradiol. I did a mini trial with increasing my dose, noticed a positive improvement in my vision. Went back down to my usual dose, vision deteroriated. I went to my primary care physician, and we agreed on me upping my dosage of estradiol to 6 mg/day. After 10 days, I realized my vision had dramatically improved. I now have proof. I've been on the increased estradiol for 3 weeks and had an appt. with my optometrist today. My vision went from 20/40 to 20/25!!! (with no change in my prescription) Will be having a repeat angio soon, will let you all know of those results as well, but I am very excitied and hope this will also help more than just me!! I am 100% convinced this is not a coincidence, it is definitely the hormone.

Karen =)

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Karen that is wonderful news. I am curious if the increase in that much estradiol might make you more susceptible to breast or cervical cancer? What did your doctor say. I take estradiol 1mg daily so I would be increasing it by 5 times as much. I hope your eyes keep on improving. My doctor said and everything that I have read said that any vision loss would not be able to be corrected once the damage was done, so what is your doctor saying about that. It would be amazing if you found something that would help and I hope the doctors that are doing research will also look into this. Thank you for your information and I pray it continues to help you.
Sincerely and hopeful,
Carol

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Hi Carol and others!

Yes, there is a risk of estrogen related cancers. It's an acceptable risk for me. I'm not in a high risk group (family members with breast cancer) and have regular exams. I too was told the damage to the retina is irreversible. I'm in the early stages of Mac Tel (I should clarify that my left eye has been and still is correctable to 20/20, even though by angiogram there are leaking blood vessels. My right eye has always been worse, and was 20/40 and now is 20/25 with the same prescription) I'm not sure if my vision problem was due to leakage which has perhaps only caused miniaml damage to the macula, and now my vision is better due to less inflammation, leakage, etc.? I'll have a beeter idea when I see the opthalmologist and get an angiogram. But I am so happy I wanted to share this now ( acutally I wanted to share it on day 10, but wanted to make sure it wasn't just a placebo effect - the down side was what I first noticed was that I looked like I had aged 10 yrs overnight, then realized it was because I could once again see all those fine (and not so fine) lines!)

Karen

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Hi, everyone!
I'm so glad to see folks are posting again - I was afraid we lost our support group!

That would be wonderful if estradiol helped improve our vision - perhaps someone can mention this to Dr Gillies or Dr Schwartz as they are both involved in MacTel research. I will ask my local retina specialist; however, she is so busy seeing patients that she has little time to learn anything new about MacTel.

Regards,
Marge

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Actually Marge I think you may find a cure first (aka Lorenzo's Oil) with all the research you've been doing!

When I get my angio results if they too show improvement I'll be gathering the documentation and will make sure someone pays attention to it (plus I'm sure you'll all help me with this!) It may be there are many factors that cause this illness which require different treatments. But it seems like for most of us ( men and women ) Mac Tel comes at a time when our hormone levels decrease. It could be that with our particular genetics/physiology it's more of a big deal. For anyone who has been to a Mac Tel center, what lab tests did they run on you? Were labs for hormone levels, vitamin deficiencies, etc, done? Have any of you had these tests done through your regular doctor?

Karen

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Hello Friends,

I'm glad to see people posting again, too.

Karen, that's great news that your vision is actually improving! I hope your opthalmologist can provide some insight into why the hormones are working and whether or not they might help others with the disease.

I haven't heard back from Dr. Schwartz yet and it's been about three weeks. I'm starting to think it might not be worth it to travel to LA. I'm due to return to my retina specialist, so I'll see him soon. He has been very interested in my case and has done considerable research about Mac Tel. Maybe it's better to stick with someone who is interested, even though I am currently his only Mac Tel patient.

My thoughts are with all of you affected by the storms this week.

Take care,
Kim

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Hi Kim.

It's my understanding that any excellent retina specialist is qualified to evaluate Mac Tel and the study centers are set up more to collect information in a standardized way to help with research into Mac Tel. (Which is why I going plus it's right here - I'm not expecting any major insight or new information) I would stick with someone whom you have a good realtionship with. When my husband learned he was losing his hearing he went to many instiutions out of desperation (completely understandable) which didn't accomplish anything much. And now with the internet information is more easily shared about rare conditions. So I would vote to just take a vacation and have fun instead!

Karen

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Gloria is going to calif for month, her and her sister have appointments for 11/7 to see dr schwartz they will ask all these questions.

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Tolobill, that's great that Gloria and her sister are going to California to see Dr Schwartz on 11/7. In addition to asking him about the Estradiol, could she please ask him when Phase 2 of the Neurotech NT-501 clinical trial is going to begin. He should know since he had Phase 1 at his location.

I came across an article about using a vitamin/antioxidant that has worked on restoring vision on some folks with wet macular degeneration. They had tried the injections which didn't work and then they had success with Nutriceutical. I wonder if any of the researchers ever thought about trying it on a MacTel patient. Here is the link to this interesting article:

http://www.medicalnewstoday.com/releases/245067.php

Karen, thanks for the compliment about my research skills, but it is going to take someone like Dr Gillies or Dr Schwartz to find a cure for us. I'm hoping and praying the stem cells they are using on the macular degeneration patients work and they will eventually try them on MacTel patients.

Regards,
Marge

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Hi all again

I have some additional comments on estradiol, mostly in response to Carol. The now famous study done on HRT and breast, ovarian, and uterine cancer risk was done on women taking synthetic hormones. There are no large studies yet with bioidentical hormones, and there probably won't be, since bioidentical hormones can't be patented. The bioidentical hormones could be better (my guess), worse, or the same. Here's a couple of links:

http://www.drnorthrup.com/healthwisdom/topic_details.php?id=271

http://www.drnorthrup.com/healthwisdom/topic_details.php?id=270

However, 6 mg of estradiol is the amount used in birth control pills, so it's not that high as it sounds in comparison to 1 mg.

I think the improvement I've experienced is due to the effect of estradiol on the vasculature of my eyes, perhaps similar to the mechanism of improvement some people have experienced with the Avastin injections. I'm hoping it will slow or stop the progression, but I don't think this will reverse any damage done to the retina. And it may turn out to have no effect overall. All I know is it is helping me right now. There are many publications involving estrogen and the vasculature system, and for those of you with diabetes, estrogen and insulin regulation. I'm compiling sort of a "best of" list of publications that seem the most applicable. Then I'm hoping a couple of PhD's I know will let me pick there brains, although their experience is with estrogen, anti VEGF, and breast cancer, and not estrogen and eyesight.

I noticed an improvement quickly, each time (within 3-10 days) so I think if your physician agrees it's relatively safe for you, I would roll the dice, so to speak. If you didn't notice an improvement within a month you could stop. I realize however, for some this would not be a safe choice. I'm fortunate to be in good health.

Question for Carol:

Is it okay to already have a dog, if you end up getting a guide dog? Or do they recommned you just have the guide dog only? Thanks!

And for you gentlemen out there with Mac Tel, I haven't found alot of scientific publications on testosterone and vision, but what little information is out there sounds overall like there is a beneficial effect of testosterone, so I think it's worth exploring, and I'll keep looking for you guys as well.

Karen

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Karen thanks for all the information on estradiol I will follow your links and talk with my doctor. My husband and I talk with the doctor about the Avastin injections I have been getting and I could not tell if it is helping slow the progression down, but it has not improved any at all. My doctor decided to keep me off for a couple of months and see if it made any difference and so far it has not. At first even though they could see the disease in both eyes really only my right eye was effected and most of my vision gone. I started out only getting injections in my right eye, but in April of this year the disease started progressing in my left eye and injections were started in that eye also. I do not think the injections are doing any good, but when you are told that is your only hope to try and slow this down I decided what do I have to loose to try. My husband just changed jobs so I postponed going back to the doctor until Jan. 2013 as I did not see a reason to pay a detectible for 2 months and start all over again with another deductible in Jan. so this may be the perfect time to try the estradiol and compare the differences.
I already had a 11 year old female lab when I purchased my female puppy and started service dog training with her. I am not sure what the agencies that place guide dogs requirements are but I do not see that as a problem if you are placed a trained guide dog. I did have to limit the time my puppy spent around my older lab as they want the dog to bond with the human world and not the dog world. Training a service dog is very different than training a pet dog. Sophie started service dog classes at 3months and she just turned a year old in September. We are about to take our state certifications test and go to advance training. Sophie will be an all around service dog not just a guide dog. Guide dogs are trained just for that period, where I have been training Sophie to also do jobs of service dog which are two different types of training. Sophie goes everywhere with me now, from groceries store to movies and dinner. She has traveled on everything but an airplane which I am not ready for due to airport security and some stories I have been told about treatment to service dogs. Sophie has been in cars, trains and buses for trips up to 10 hrs each. Once we pass certification we will started the advance train which will included guide dog training. When I put her service dog vest on I say lets go to work and she is all about work, and when we are done and vest if off I say release and she goes and plays with my other lab. It was just during her younger puppy time they asked she not have a lot of interaction with my other dog until she learned the difference between work and play. If you are going to wait an apply once your vision is classified as legally blind in both eyes then you will go to where you dog is being trained and work with it for a month or two and then bring home. At that time your dog will be fully trained so it should not make any difference if you have another dog in home. I was told once you are declared legally blind you can ask to be put on a wait list and usually it is anywhere from 6 months to 2 years wait. Check with the Department for Blind and Disable and they will give you what information is required in your state as each state is different I am told. Hope this helps.

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Hi, thanks Carol!

I am so tempted to get a couple of dogs, I really miss not having them, but was worried if I needed a service dog in the future it could be a problem. I'm glad it's not. I would like to train a dog myself as well, as I saw a program on service dogs and how sometimes they have a hard time leaving their trainers and bonding with their new owners. I felt so sorry for them. I guess the paradox is right now I have to work, so there's no time to train a dog, and they only way I won't be working is when I'm disabled, then I might not be able to see well enough to train one! I'm a bit worried about my abilities as a trainer, as I have yet to get my cats to STOP jumping onto the bed in the middle of the night to play with a live mouse. So I'm off to try to find the small hole the mice are sneaking through.

Also I don't know if you mean by your doctor, an opthalmologist or your primary care physician. Your primary care physician is more likely to be receptive and knowledgable about the estradiol - and cheaper.

Thank you again for all the helpful information!

Karen

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