Not Created Equal

We heard from a reader who has vitelliform macular dystrophy. I had never heard of it. Therefore you can image my surprise when I picked up an article I had downloaded last week and – guess what! – the article talked about vitelliform dystrophy! Sometimes the synchronicity in the Universe is scary.

Anyway, it appears the Universe has declared we are to learn about vitelliform dystrophy. Here we go!

I have discovered all macular diseases are not created equal. There are dozens of them and researchers are discovering more on a regular basis.

Vitelliform dystrophy may look like age-related macular degeneration and act like macular degeneration but it is not macular degeneration. (Don’t worry. We are not throwing you out of the group!)

Vitelliform dystrophy is a pattern dystrophy. They are so called because the damage tends to ‘draw’ things on the retina. For example, one manifestation of the disease looks like a butterfly (photo to the right is a fundus photograph of butterfly pattern).

Vitelliform 2 is called Best disease. This is not because it is the best disease to have nor is it because Dr. Best hijacked the disease and named it for himself. It is because the disease comes as a result of a mutation on the BEST1 gene. (Apparently that means we all have BEST genes and there are at least two of them. How about that.)

Best disease is a pattern dystrophy because – all together now! – it makes a PATTERN on your retina. The pattern is a sunny-side-up egg. The yolk is centered on the fovea.

One of the nice things about Best disease is you may never know you have it.  According to the Hereditary Ocular Disease site 7 to 9 percent of those with Best disease are asymptomatic. Others may experience vision loss but recover most of their function. A much smaller percentage may proceed to neovascularization and serious loss. Of course, the older we get the better chance we have of having some really serious problems. And by the way, children can have this one.

That is because, once again, it is genetic. Best disease is an autosomal dominant condition. That means it is on a body-forming chromosome – not the chromosome that has the x or the y and makes you a boy or a girl.  It is also dominant and can express itself whether or not its partner gene wants it to. You only need one of these babies to be in trouble.

Of course there are all sorts of things that may or will affect whether or not this gene does actually express. However, this is not a place to discuss epigenetics. Nor am I the one to explain THAT baby! Suffice it to say, you should warn everyone you are related to by blood that it has expressed in the family and they need to have regular eye exams.

Like AMD there is absolutely no treatment and no cure. (I get so tired of typing that). If you have Best disease and progress to CNV you may profit from shots.

And that, my dears, is that. Continue reading “Not Created Equal”

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Hindsight is 20/20

Good evening! How are you all?

Lin has noticed I seem to have written soooo many pages they are overwhelming and confusing some people. She feels this is particularly true for some of the newbies who probably feel like they have walked in on the (boring and confusing) middle of a movie. [Lin/Linda: to be clear, those are Sue’s words! ::grin::]

Understood. Some of you are back in the shock and doom phrase and I am talking about getting newspapers on your phones and other trivial matters. Who wants to hear about that sort of thing while your world is unraveling?

In the interest of pointing you towards something that might actually be helpful, Lin is republishing some earlier pages for your attention and discussion. And I – always helpful – am going to add to the confusion by writing another page!😘

This page will have a catchy title thanks to Lin, but right now I am going to call it “What I know now that I wish I had known a year and a half ago”.

First, you are not going everything black and dark blind.

It is not good but neither is it quite that bad. You are losing central vision. Things will not be good for anywhere from about 15 to 60 degrees of arc. Since normal visual fields are 170 or so degrees of arc, you have the potential to lose about a third of your vision. Not anything to cheer about but better than 100%.

You may not be doomed to progress to end stage AMD.

About 15% of patients become ‘wet’. About 15% progress to geographic atrophy. That means you – starting out with drusen and a diagnosis of early AMD – have a 85% chance of dodging the proverbial bullet for end stage AMD. You may very well not get as bad as I am and a year and a half after my second eye went to hell, I am still functional. [Lin/Linda: a person can have both wet AMD and geographic atrophy in the same eye.  I don’t what that does to the %, if anything.]

You did not cause this.

Yes, AMD is caused but it was not caused by anything you did or did not do. The causes are in your genes. This is a heritable disease. There are dozens if not hundreds of genes that are being investigated to try to figure out how AMD is created. It appears AMD may just be the result of a genetic ‘perfect storm’ and there is no one to blame.

There may come a time you are seeing things.

I saw some odd stuff when my brain was working overtime to assign meaning to the faulty images my eyes were sending it. You are not psychotic (I hope you are not psychotic). This is Charles Bonnet Syndrome. When your brain gives up trying to assign meaning to false signals you will stop seeing weird ‘stuff’. In the meantime, enjoy the fantasy.

Point number last: There is an amazing amount of hope for treatment and eventually a cure for AMD.

Research is going on everyday. New discoveries are announced with regularity. The medical community is hot on the trail of something that will arrest the progression and may even reverse this disease. All we have to do is hold on.

OK. Those were my biggie when I first lost my second eye. What are you worried about? Please share and we can discuss it. Continue reading “Hindsight is 20/20”

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Genetic Rant & Roll – The Miniseries: Final

Lin asked me to give an impression on genetic testing. These are just impressions. I am not educated enough to have an opinion. Can I be totally full of canal water? Absolutely.

Let me preface this with all the stuff Lin emphasized. The testing we did was technically not ‘for’ me. I am too far gone to be in their target population. It was really not supposed to give me any solid info. In my case, it was an exercise. That said…

For me at this point in my disease, the testing was minimally helpful. I discovered a possible reason for why my disease started early and is progressing fast: I seem to be a prime candidate for AMD from the genetic standpoint. 97th percentile rank seems pretty prime to me!

I discovered management strategies such as vitamins and antioxidants would not have made a big difference. Maybe took away some of the guilt of having a big, bowl of popcorn for dinner as opposed to a healthy salad all those times! (You would probably cringe if you really knew how many times that happened.) [No, =I= wouldn’t having lived with you for years in college. ::smile::]

Those two discoveries brought on a feeling of hopelessness. I was doomed by crappy genes and none of the potential management strategies would do a dang thing for me. I ranted and raved. Got a little pissed. Fight, flight or freeze? I fight.

Fighting for me generally involves gathering information. Some of us grew up on Scholastic Rock (remember Lolly, Lolly, Lolly get your adverbs here? Ooops, digressing again) and we know that knowledge is power. I looked for what was going wrong.

What I found was a whole bunch of stuff that had to do with mutations in lipoprotein formation and the alternative complementary immune system. Chewed on THAT for awhile, let me tell you.

My understanding – and this can be TOTALLY out in left field – was that my garbage collection and disposal system is not working too well and my defenses have faulty targeting systems. Lots of friendly fire taking out good cells.

And here, my dears, is where I see the value of genetic testing. In the next few years they will be coming out with dozens of targeted treatments for many diseases. Already, a friend’s sister-in-law did not have to have chemo for her breast cancer because it would not have helped according to the genotype of her tumor. The woman got targeted treatment and was spared going through chemo because of genetic testing.

If lampalizumab proves to be as hot as it looks like it is going to be, AMD’s time will have come for targeted treatment. And that means the time for genetic testing for AMD would have arrived as well.

Why, you ask? (I am sure I heard some curious soul voice the question 😁) Because there is one genotype that responds beautifully to lampalizumab. It will save money in treatment ( and remember, for most of us, this is America, the land of the almighty $$$$$$) if you only give lampalizumab to the people who will respond.

So my impressions on genetic testing for AMD? Great idea but too early in the game. The FDA does not consider supplements to be drugs and will not pay for testing to “pick one”. (Remember $$$$$). Later this year when they launch lampalizumab and maybe a few other treatments? Whole different story. Genetic testing is going to rock and roll.

And that is how I see it. Other impressions? Continue reading “Genetic Rant & Roll – The Miniseries: Final”

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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 9

Macula Risk Report – Prognosis

Lin/Linda here.  Neither Sue nor I were candidates for the Macula Risk evaluation.  We’re not the ‘typical’ patients who benefit from genetic testing – those are people with early, intermediate, or advanced AMD in only one eye.  We had the Vita Risk evaluation which primarily told us whether or not supplements would help us.

Most people get the Macula Risk test which includes the information from the Vita Risk test plus a 10 year prognosis for their progression toward advanced AMD (CNV/wet AMD or GA/geographic atrophy).   Based on this prognosis, they are assigned one of 4 Macula Risk Scores, M1-M4, with M1 and M2 indicating a low risk of progression in 10 years and M3 and M4 indicating a moderate risk.

Click here for more information about how the risk scores are determined.

The Risk Scores are used to give the patient’s eye care professional guidance as to when the patient should have an exam, what testing should be done, whether they should be advised to take supplements and when they should be referred to a retina specialist.

 

 

 

 

 

 

 

 

We are finally coming to the end of our journey with genetic testing.  The last thing to do is for each of us to talk about our overall impression of the process and results.

Continue reading “Genetic Rant & Roll – The Miniseries: Part 9”

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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 7

Lin/Linda here, my turn.  I want to clarify that a lot of what I knew about the test came from my email interactions with Gerry at ArcticDX before he offered to have Sue and me tested. This is what he said in his first email in November 2016 about what information their testing gives:

  1. What type of supplement you should use (AREDS with zinc or a zinc-free equivalent) – that’s their Vita Risk test which is what we had done.
  2. What is your risk of losing your vision to AMD (for those with early or intermediate AMD) – their Macula Risk test (also includes supplement recommendations) which is the test done for most patients.

He also said that this testing would normally be done through a physician’s office and discussed with them as well as with the genetic counselor that the company provides. Each of us spoke to the genetic counselor.

Before the test, the only thing that I really was expecting to find out was if I am zinc sensitive.  Since my father had AMD which progressed to Geographic Atrophy, I knew my risk would be higher than someone with no family history.

This is what Gerry told me about my results:  “1.  You have 0 bad copies of the ARMS2 gene and you have 2 bad copies of the CFH gene which puts you in the ‘zinc is bad for you’ category;   2. Overall, you have an elevated, but not high, genetic risk of 81 percentile.”

I’ve had quite a few statistics courses but I’ve never been good with numbers and it was a long time ago! I did what I tell people NOT to do: I looked at the 81% and that’s what I thought my risk was.  Before this I’d read that with a 1st degree relative with AMD, the risk would be 50% so 81% looked quite a bit higher!! I admit that I had a moment of panic. I wonder why they chose to put the % there?

I went back to Gerry who helped me to remember what percentile means.  He said “Genetic risk percentile describes how good or bad your AMD genes are – an 81 means that out of a random 100 people, 19 people will have it [AMD] worse than you, and 81 the same or better – this will never change – it’s DNA.”   I remember he told me that our genetic risk accounts for about 60% of the overall risk, that the other factors are things like age, race & eye color that we can’t change but some that we can such as diet, weight, overall health.  So there are things that I CAN do to improve the odds.

At least I was able to tell Sue that she WON with the worse genes of the 2 of us – she’s so competitive! ::grin::

Back to the Genetic Features part of my report, I did ‘my count’: 3 low risk, 4 medium risk and 8 high risk genes.  I honestly didn’t know what that really means but figured it went into the mix for calculating my percentile – and it does. It wasn’t until Sue started to do in-depth research into her specific high-risk genes that I even thought about looking at them individually.

We’d both read that the APOE gene was related to the risk of developing Alzheimer’s Disease and AMD but there’s been no hard evidence exactly how.  Sue initially thought that because it showed ‘medium risk’ on her report (as it did on mine, too) that it not only meant the risk in regard to AMD but also Alzheimer’s Disease (Part 3).    The results of testing the APOE gene here is for the risk of AMD, not for Alzheimer’s.  The Alzheimer’s Association says that genetic testing for Alzheimer’s Disease is very complicated and controversial.

Bottom line about APOE risk as shown on our reports: it doesn’t give us enough data to say anything about our genetic risk for Alzheimer’s Disease.

Next:  the graph and supplement information

Continue reading “Genetic Rant & Roll – The Miniseries: Part 7”

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