Genetic Rant & Roll – The Miniseries: Part 10

Lin/Linda here:  Here we are, at the end of what seems like a long journey.  We want to wrap this up with some thoughts we each have about the value to us of the genetic testing that we had and offer some words about genetic testing in general.

Before I start, we want to thank Gerry at ArcticDX for having us tested and for patiently explaining the results to us.  We’ve learned a lot.  Of course, as we’ve mentioned several times, there are other sources of genetic testing (there’s a link at the bottom of Part 1).  Let’s first discuss the testing that we had which is the Vita Risk test.

Benefit to me

I’m not the ‘typical’ person to be tested in that I don’t have AMD but I am very glad that I found out that I am zinc sensitive which means that if/when I develop the disease, I will NOT take zinc but I should take the antioxidants that are in the AREDS/AREDS2 supplements.  As to whether knowing that I’m in the 81st risk percentile is valuable, I expected to have a higher-than-average risk because my dad had AMD. But then again, my grasp of what numbers really mean has never been that great! ::smile::

General benefit in my opinion

I think that the real value is for people with early, intermediate or advanced AMD in only one eye to have both the Vita Risk and Macula Risk testing.  In addition to knowing what supplements will help or harm, the patient can find out what their risk is of developing advanced AMD in the next 10 years.  That information can help their eye doctor manage their care in the best way possible.

For someone who is categorized as high risk (M-3 or M-4), that may also provide the motivation the person needs to work on their part of the equation which is the 30-40% of the overall risk that is based on lifestyle factors like nutrition, weight, exercise, blood pressure and cholesterol control and smoking.

Even before I had the Vita Risk test, I knew I would have a higher-than-average genetic risk so I’d already started to work on my issues with nutrition, weight and exercise.  Luckily, my blood pressure and cholesterol are fine.

Zinc

There are some people who believe that the solution to one’s concern as to whether they are zinc sensitive is to not have genetic testing done but to take a supplement with a low dose of zinc or without any zinc.  That is an option and may be the only one available to those whose eye doctor does not work with genetic testing like this or for those whose insurance won’t pay for it.  Some things to consider:

  1. Zinc did help some people in the AREDS1 & AREDS2 trials but there was also benefit without it.  In both studies there was a group who received antioxidants with zinc and one who received antioxidants only.  The reduction of progression to advanced AMD was significant for both groups:
    1. antioxidants with zinc: 25% reduction
    2. antioxidants without zinc: 17% reduction
  2. Supplements, vitamins and minerals are not regulated by the FDA. However, the National Institute of Health has guidelines.  For zinc in terms of safety, the upper limit is 40 mg.  The dosage used in the AREDS1/AREDS2 studies was 80mg.  There was a subgroup in AREDS2 where the dose of zinc used was 25 mg and they found no difference between the results of it and with the results of the groups who got 80mg.
  3. For those who are zinc sensitive, even 25 mg is considered to be too much.

The point is that everyone has to make their own decision as to how to handle the issue of benefit vs risk of taking zinc without the knowledge that comes from genetic testing.  Is the difference between 25% reduced risk of advanced AMD with zinc that much MORE than 17% without zinc?   I’m certainly not the person to ask about that one! ::smile::

 

Continue reading “Genetic Rant & Roll – The Miniseries: Part 10”

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Genetic Rant & Roll – The Miniseries: Part 8

Lin/Linda here again to finish up my report.

On to the graph.  I AM sensitive to zinc!  Gerry told me never EVER to take zinc.  He said that I am the ‘poster child’ and why they really want to do these tests. I don’t have AMD now but this gives me VALUABLE information if I do develop it.

It shows what happened to the ‘average’ participants in the AREDS study (first one) who had the same genotype as me in regard to CFH & ARMS2 only. Each line shows one of the 4 treatment groups in the study (the key is below): placebo is solid blue line, antioxidant is dashes in red line, AREDS F(ormula – the one with zinc) is dotted blue line,  and just zinc is green line with dots).  What it shows is that the zinc & AREDS Formula with zinc groups progressed to advanced AMD faster than the other two groups!  Yikes! Scary!

 

 

 

If you look back at Sue’s graph, participants in the AREDS study progressed at the same rate over the 7 years of the study no matter what group they were in.  So because of her CFH and ARMS2 genes, none of the study treatments – antioxidants alone or AREDS Formula with zinc or zinc alone – would have helped.  Remember, she’s sadly already at advanced AMD.  For a person who has financial constraints, knowing this in the early stage could have saved quite a bit of money spend on supplements.

 

So that’s the end of the analysis of our reports.  Most of the people who have genetic testing will also get a 10 year prognosis which is used to advise their eye professional as to what their care plan should be.  That’s in the next page.

Click here to review the research that supports the genetic testing by ArcticDX.

Click here to review the findings about the dangers of zinc for those with a specific genotype.

Click here for other sources of genetic testing for AMD through the US National Center for Biotechnology Information (NCBI), a division of the National Institute of Health. This is their Genetic Testing Registry with labs around the world not only in the US.

Continue reading “Genetic Rant & Roll – The Miniseries: Part 8”

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Genetic Rant & Roll: The Miniseries: Part 6

Hi. Slowly resurrecting here. I had a half of a burger before deciding discretion is the better part of valor. Better tomorrow. Do not – I repeat – do not put yourself in a situation to get food poisoning! Very nasty stuff.

I had about a 15 minute conversation with Gerry from the genetic testing company that did our testing. Lin and I will be coming at this from two, different angles I would suspect. Given my situation and my results, it was all of little help to me.

Do not get me wrong. I am very appreciative of being given the service for – one of my absolutely favorite words – free. I am sure I would feel differently if I did not have geographic atrophy already. I would feel differently if I were not two standard deviations above the mean (read pretty wildly variant from ‘normal’ people but, hey, why be normal?) in risk factors or if known ‘treatments’ had been predicted to be even a bit helpful for me. None of that was the case.

Gerry admitted that the genetic screening is not for people like me. I pretty much know what is going to happen. More of the same. AREDS, low zinc AREDS and an antioxidant diet are all minimally – really minimally – effective in someone of my genotype.

My genotype sort of says to me hang out, relax and quietly go blind. Fortunately I am not in the habit of listening to lazy, misguided genes!

Oh, there are a couple of things I did get confirmed. My eyes have a pretty crappy trash removal system just as I thought. Also, the targeting mechanisms on my defenses are faulty.  Gerry saw that as more crucial than my other problems. It is sort of an autoimmune problem in my eyes. Not exactly, but sort of.

Gerry was not totally sold on stem cells. He said the research has a long way to go.

Yep. Phase 2. One step above the safety and tolerability phase.

With my eyes, as long as I don’t mutate into the fly, I still want in. I don’t have a lot of time to waste.

Arctic guy suggested looking at the lampalizumab study. He said that is in phase 3 and looking promising – on pretty much the far end of the state. Getting there would not be a joy.

I could not get the paper on their phase 2 research to come up on Google Scholar. Not sure why. Let me know if you find it. Anyway I was told Roche keeps shoveling big bucks into this project. Big bucks in means anticipated big bucks out. They think they have something.

So. Here I am. Pretty much where I started. Genetically speaking, I don’t have a lot of options. My choice is the choice I made months ago: Stem cells. RPE replacement with an eye to eventual photoreceptor replacement once we have the technology.

Lin, your take on your results? [Yep, next page!]

Continue reading “Genetic Rant & Roll: The Miniseries: Part 6”

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Genetic Rant & Roll – The Miniseries: Part 1

First the disclosure statement: we actually got our first ‘perk’ for doing this webpage. ArcticDX, the parent company for Macula Risk and VitaRisk genetic testing, has provided Lin and I each with a free genetic test Vita Risk to see if we have the genotype that interacts with zinc and makes your AMD deterioration progress more rapidly than those without it.  The price quoted to the public for these tests is $500 each without insurance, $50 copay if an insurance covers it.

That said, we have no intention of letting these generous gifts cloud our judgment about whether we think the information was valuable, etc. However, we will be using their products, talking about their products and consulting with their genetic counselors because we have been able to use their product for – one of my magic words – free. If you have a genetic testing company and wish to extend us free services, we will write about your company also.

OK. Thanks to Gerry and all of the folks at Arctic. It is exciting for us to think you believe in us and the quality of what we are doing enough to want to be associated with us.

I got my kit midweek and just got around to opening it this morning. I had wanted to give myself plenty of time to do it because I am really lousy at following directions. Fortunately for me directions were pretty basic and straightforward. You open the envelope, run one brush around the inside of one cheek, scraping 20 times, and then scrape the second brush on the inside of the second cheek. I did it first thing in the morning, before breakfast, so there was no stray DNA in my mouth. Never really thought of chicken or pig DNA being in my mouth after a big breakfast, but it would make sense.

I thought my cheeks would be tender but I hardly felt it. The brush is very gentle.

The kit is now sitting in the mailbox waiting for the letter carrier to pick it up and send it on its way. Not sure how long it will be.

The literature that came with the kit is possibly a little more optimistic than I would like, but this is the nature of advertising. I don’t believe medicine is quite able to apply genetic information in determining treatment and management strategies as well as the brochure suggests. Someday. I am interested in seeing what kind of ‘personalized treatment’ is going to be suggested. [Lin/Linda: at this point in time, the results can provide guidance to eye professionals as to creating treatments plans (how often to have an office visit, how often to have various eye tests) and whether AREDS supplements are advisable and with or without zinc.]

That is our most recent venture into the brave new world of AMD and vision loss. Please keep in mind: we are two sets of experiences, two opinions only. If you have experienced or believe something different – or even if you back us up for that matter – let us know. We are on this journey of exploration together.


Lin/Linda: I do not have AMD so there is no way my insurance would have paid for a test for me.  However, I do have a family history and I am the “right age” as the company representative told me & it will tell me if I’m one of the ‘zinc sensitive’ people.   Neither of us could benefit from and we did not have the Macula Risk test that ArcticDX has which includes a 10 year prognosis.  The prognosis shows estimated progression to advanced AMD which is what Sue has.  And I don’t have AMD.

 

Click here for contact information for ArcticDX.

 

 

 

Click here for other sources of genetic testing for AMD through the US National Center for Biotechnology Information (NCBI), a division of the National Institute of Health. This is their Genetic Testing Registry with labs around the world not only in the US.

Continue reading “Genetic Rant & Roll – The Miniseries: Part 1”

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I Am Not a Doctor

Commentary: Lin just sent me a post from someone in the Facebook group. She asked for my reactions. The person is claiming he completely reversed neovascular (wet) AMD with nutritional treatments. Here goes.

First the disclaimer. I am not a doctor. I am not a nutritionist. I am a woman with dry AMD who has tried to educate herself about her disorder. Therefore I do not, by any stretch of the imagination, have all of the answers. End of disclaimer.

That said, let me congratulate him on his greatly improved vision! I am glad he are doing well.

I know some of what he says is true. In general the diets of those in the developed world are atrocious. We should be eating many more fruits and vegetables, especially our leafy greens, than we do. The reason taking the AREDS/AREDS2 supplement works to slow the progression of the disease is probably our poor diets. If we ate well, the supplements would not be so needed. [Lin/Linda: I have to mention that there is some risk taking the AREDS or AREDS2 with 80mg zinc.  It can cause problems in the genitourinary tract but there is evidence that for people with certain genes, that high dose of zinc can cause their AMD to progress faster. Since not everyone has easy access to the genetic tests, there are supplements with no zinc or less zinc.  Check out this post for more information.]

Angiogenesis is the growth of new blood vessels. This is a hallmark of wet AMD. There is some evidence angiogenesis is part of the healing process and may be triggered by inflammation (Reiner O. Schlingemann in Role of Growth Factors and the Wound Healing Response in Age-Related Macular Degeneration). There is also evidence that retinal hypoxia (in English? Your retina is gasping for oxygen) is a trigger for angiogenesis and neovascular (wet) AMD. (Citation same guy. It is so nice not to have to follow APA format😁 [Lin/Linda: APA is the American Psychological Association and when you write something for them, you need to follow a very strict format for references to articles.]

That said, theoretically it is possible he hit upon a combination of nutrients that would reduce inflammation and increase oxygenation to his retina, thus somehow stopping the angiogenesis. Did this happen? No clue. I am just sort of a slightly-too-smart-for-my-own-good, visually impaired lady. (Gets me in a lot of trouble.) Is it possible? Sure. “There are more things in heaven and earth, Horatio, than are dreamt of in your philosophies.” (That is the bard, of course).

Now, it would be my supposition – again totally unfounded – he was not in advanced AMD and had not experienced much if any photoreceptor death i.e. geographic atrophy. Unfortunately from what I have been told dead is dead with those. They would not have come back.

That is pretty much my take on it. Again when it comes down to it, I know nothing but I have a helluva lot of opinions. Don’t believe me. Offer your opinions. What do you folks think? Continue reading “I Am Not a Doctor”

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I Have Macular Degeneration…Now What?

If you aren’t familiar with how to move around on our website pages, click here

Where can I quickly find information about AMD?

One of the best resources available is from the Prevent Blindness organization’s website called Guide Me.  You answer a few questions and you will get a personalized guide with important aspects of AMD based on your answers.  Click here to go to Guide Me.

What other websites are helpful?

Here are some of our favorites:

  • Click here for a video that covers important information about AMD
  • Click here for a description of dry vs. wet AMD (we are not recommending any products in this article)
  • Click here for an article about depression after diagnosis (which is common)
  • Click here for some answers to common questions about depression after diagnosis
  • Click here for an article about how vision rehabilitation helps prevent long-term depression
  • Click here for a very comprehensive page about wet AMD
  • Click here for a very comprehensive page about dry AMD
  • Click here for an article about how fast AMD progresses
  • Click here for 10 questions to ask your doctor
  • Click here to find a support group
  • Click here to find out should I take the AREDS or AREDS2 supplements?
  • Click here read about the role of nutrition in AMD
  • Click here for eye healthy foods including a Healthy Vision Grocery List
  • Click here for a January 2017 scientific review article“Nutritional and Lifestyle Interventions for Age-Related Macular Degeneration: A Review”
  • Click here to find out what vision changes/symptoms to look for
  • Click here to find out about the people who can help you (what are the differences between the types of eye doctors, do I need to see a specialist, etc)
  • Click here for tips on how to make the most of the vision you have
  • Click here for a FAQ (Frequently Asked Questions) that answers a long list of questions such as ‘will resting help my eyes?’, ‘Can I see for myself if my retina or macula shows any signs of damage before I have symptoms?’, ‘why don’t new eye glasses help?’, ‘what is meant by degeneration?’, ‘is a macular hole the same as macular degeneration’, ‘I have had dry MD for years. Does this mean I’m going to get wet MD too?’, ‘No one else in my family has MD. Why did I get it?’, ‘can drusen be treated?’, ‘I have changes on the Amsler Grid, does this mean I have MD’, ‘I have Wet MD but my Doctor says there is nothing he can do or no treatment available. Why is this?’

Where can I do more research?

Of course you can do searches on the Internet – there is a LOT of information there.  We have done a lot of research and here’s how you can find it.

  • through Sue’s Journal Pages. Sue became visually impaired early in 2016.  She is a psychologist trained in Dialectic Behavior Therapy (DBT), a cognitive behavioral therapy, and she writes about how she is using it to help her cope with this vision loss.
  • on our Resource page where there are links to many sources of information such as what is AMD, what is Stargardt’s Disease, organizations and websites with useful information, support groups, videos, books & reading materials, where to find vision services, where to find financial help especially for injections, personal stories, the science stuff, clinical trials & research (and how you can become part of one,  online newsletters, symptoms, possible causes/contributing factors, treatments, coping, how to take care of yourself…and more!
  • and in the posts in News/Highlights blog

There are more ways to get information from our website

Search or select CategoryYou can actually do research ON OUR WEBSITE!  You can find things such as in which of Sue’s journal pages does she talk about depression, where can I get more information about sunglasses or vitamins, etc.  If you are using a computer, for example a laptop, you may have seen the search box plus words under Categories and words under Tags/Keywords on the right side of each page. If you use a tablet or smartphone & the screen isn’t wide enough, unfortunately you have to go all the way down to the end of each page to see these sections.

Do you want to know in which pages Sue talks about depression? You can type the word depression (you can also type multiple words) in the search box or select the word depression under Tags/Keywords and you’ll get all of her pages where she talks about it plus you will get any of the News/Highlights posts as well as any matches in the Resources/Links or News/Highlights pages, too. If you want to find everything on our site about sunglasses, you could type the word into the search box or look for the word under Tags/Keywords and select it.

Tags/KeywordsIf you want a broader range of pages & posts such as ‘Tips for living with low vision’, you’ll see that under Categories.

 

 

 

 

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I’ve set up this page so that when you click on a link (words that are underlined & in blue or green), a NEW tab will open in your browser and this page STAYS WHERE IT IS.  When you are done with the new page you opened, just close it.  You do NOT need to use the back option.  If you click on a link and the new page replaces this one, I’VE MADE A MISTAKE so please let me know by sending me an email at light2sight5153@gmail.com.  Let me know exactly which link or links do not open a new tab or window.

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Linda & her dog Chase
Linda & her dog Chase

To find about more about me, about Sue, about our project, go to the menu at the top of the page for sections about each of those.

 

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