Snips & Snails & Puppy Dog Tails

Snips and snails and puppy dog tails are supposed to be what little boys are made of. However, now it appears we girls are made of snips also!

Just when I had decided I am not appropriate for ‘lamp stuff’ (lampalizumab) because I do not have the complement factor I (CFI) at risk allele, Lin informed me the snips ArcticDX tested for are not the same ones as in the study! I may be saying I don’t qualify because I don’t have ‘fruit’ but Arctic tested for oranges and the researchers tested for apples. Apparently all ‘fruit’ was not created equal. My CFI test that was fine may not really have tested what should have been tested if I want to make a decision about the study. I am so confused! [Sue talks about CFI & lampalizumab in pages I Want to Be a Mutant and I Am Not a Mutant.]

So what in Hades am I talking about? See above. The part about being confused. Let us delve further into this mystery.

A snip is actually SNP (it is pronounced snip). That is a Single Nucleotide Polymorphism. SNPs are tiny, little parts of genes. They are a variation in the spelling of our genetic code. Clear as mud, right?

Let us try again. The alphabet of genetics is made up of four letters: A, C, G,and T. Each of them is a nucleotide. Vary the order of the nucleotides on an allele and you can get any one of a variety of characteristics being expressed. Life in all of its diversity is written with a four- letter alphabet.

Sometimes Nature doesn’t spell too well. Sometimes she gets sloppy and copies a C for an A or whatever. These spelling errors do not cause disease but they can affect how the cell will function. They can also predict a response to certain drugs.

Spelling errors or SNPs are very common. According to my source, the Genetics Home Reference again, any one of us can happily harbor 10 million SNPs. However, even with that number of errors, Mom Nature still earns top grades in spelling. 10 million letters in error is a drop in the bucket when you consider how many letters were written for each of us.

We have gone from chromosomes to genes to alleles to SNPs. We are getting smaller and more specific as we go. Pages to paragraphs to words to letters. The SNPs are letters in error in the book of Life. Apparently the genetic testing I had found no spelling errors at the top of a paragraph while the researchers found spelling errors at the bottom of the paragraph. These bottom of the paragraph spelling errors caused the fantastic response to ‘lamp stuff’.

Looking at the perfect spelling of words at the top of the paragraph cannot tell me if I harbor those magic mistakes at the bottom. I am back to where I was. Indecisive as to what to do once again.

written July 30, 2017 Continue reading “Snips & Snails & Puppy Dog Tails”

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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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Sisters Are Doin’ It For Themselves

I have paid a lot of attention to the male movers and shakers in vision research. Perhaps it is time to note the contributes of the women. Recently I have come upon short articles about the research of two.

Sally Temple, SUNY-Albany, and her colleagues recently published a paper on how nicotinamide can suppress the progression of AMD. Nicotinamide is a vitamin B3 derivative.

Dr. Temple took pluripotent cells, that is stem cells, from people who had AMD and those who did not. She manipulated the stem cells to become retinal pigmentation epithelial cells and grew them in her lab.

One of the first things Temple and her team noted was the cells from the AMD people acted differently from the RPEs grown from healthy subjects’ cells. The cells from people with AMD produced different chemicals. The chemicals were the same ones that figure in the production of drusen and contribute to inflammation.

These were RPEs growing on a culture medium in a glass dish. There was nothing else to contribute to the formation of the chemicals. The chemicals had to be coming from the RPEs. And, with no other possible influences, the cause for the production of these chemicals pretty much had to be genetic.

The fault, dear readers, is not in ourselves but in our genes. One more tally in the genes are destiny column.

But the good news is, when they squirted (or whatever) nicotinamide on the offending RPEs, things improved. Chemicals that are responsible for the bad things were less and the RPEs survived longer.

Perhaps if we find a way to get nicotinamide directly into eyes, we will get the same results in vivo as in vitro. Worth a try.

Masayo Takahashi is a Japanese researcher. Takahashi has been experimenting using pluripotent cells taken from the same people they are going back into. No embryonic cells required.

There is excitement about this new procedure not only because of ethical issues. There are indications this procedure will be cheaper and faster to implement. In additional, they are thinking people can ‘bank’ their stem cells. These can be used either for ‘repairs’ in the original cell ‘owner’ or they can be given to other people who are immune matched. (Sort of like blood type matching. Don’t want the body getting up in arms over the ‘invading’ materials.)

Bottom line is the ladies are out there rocking it just like the men. They continue to come up with great new findings and each one takes us a little bit closer to effective treatments and maybe – just maybe – even a cure.

To copy Lin’s use of old song titles, “sisters are doing’ it for themselves”. And they are doing it for us, too! Continue reading “Sisters Are Doin’ It For Themselves”

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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: Part 3

First the disclaimer: I am not a doctor or a biochemistry or a geneticist. Do I know what I am talking about? Hell, no! But I got this chart that says I have eight, really crappy, five moderately crappy and two decent genes and I have no idea what any of these 15 pairs of genes does. Trying to find out.

Just remember a little knowledge can be a dangerous thing….especially when it comes from someone who does not know what she is talking about!

Our first gene pair is ABCA1. ABCA1 is associated with macrophages, or ‘big eater’. Greek like Latin always makes things sound much cooler than they sound in English. Macrophages are part of the immune system and ‘eat up’ things that should not be in your system. (I have asked a medico whose wife I know to explain the complementary immunity system to me in English words of five or fewer letters. I will let you know when I understand it, but I think there is a connection here.)

Anyway, ABCA1 moves fats from the inside of the cell to the outside of the cell. Sounds like sort of a cellular level garbage man to me, or maybe the teenage son taking the garbage to the curb would be a better analogy.

Once the fat is outside the cell – or on the curb in our analogy – our ‘garbage man’, a protein manufactured by the APOA1 gene, comes around to pick it up. I am not sure the status of my APOA1 garbage man. I did not get that one in the report. However, if the fats are not getting to the ‘curb’ we can expect them to build up In the cell. Although my source – the Genetics Home Reference – does not say this, I think this is related to drusen.

I have a moderately crappy APOE gene pair. My guess is APOE is a brother or cousin to APOA1. The APOE gene produces proteins that bind with fats and carry these fats from the cells and through the bloodstream. Perhaps the analogy here would be the garbage truck. People with good copies of the APOE gene have fancy, self-contained garbage trucks to transport the fats. Nothing flies out of them into the bloodstream ‘street’. APOE is one of my moderately crappy genes so my garbage truck may be a dump truck. Things sometimes fall out. People with really crappy APOE genes have garbage flying off all of the time.

If your garbage is fat and your street is your bloodstream, all sorts of cardiovascular problems can happen because of substandard transportation. Fortunately, even with one bad copy of the gene, my cholesterol is good. Maybe I avoided that problem. However, with crappy copies of the APOE gene I discovered I MAY have an increased risk of developing Alzheimer’s. Happy, happy, joy, joy. Just what I needed to make my day! [Lin/Linda here: we’ll discuss this more in coming pages because I, too, have the same genotypes for APOE & we both have a parent who had a form of dementia so this is important to us.]

So those are the first two genes on my list of 15. In my analogy – or perhaps it is a metaphor – I have a lazy kid who is supposed to be taking the garbage out but doesn’t, an unknown quality as a garbage man to pick it up and a garbage truck that loses things from its load. My inefficient disposal system means that lipids – affectionately known as eye poop in these pages – get left behind and pile up. Not sure if I am anywhere near being correct but I sort of like the explanation. Make sense to you?

Next up: ARMS2 Continue reading “Genetic Rant & Roll – The Miniseries: Part 3”

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Welcome!

You are here to follow the journey & misadventures of a woman named Sue who became visually impaired with Age-Related Macular Degeneration (AMD or ARMD) seemingly overnight.   Join in the tears and laughter. Join in the discussion. Learn more about Age-Related Macular Degeneration. Find resources for your own journey or that of someone you know.

We’re going on a bear hunt….can’t go over it, can’t go under it, got to go through it.

Sue is a psychologist trained in Dialectic Behavior Therapy (DBT) and is using it to help her cope with this vision loss. Her trusted and invaluable friends bring computer, research and occupational therapy skills to this endeavor. Yeah team! We hope you benefit from the fruits of our labors.

We are not offering free psychological therapy.  We are not medical people.   Please read the disclaimer.

This website is divided into 4 parts:

  1. If you have just been diagnosed or if you are beginning your research, here’s a place to start in I Have Macular Degeneration…Now What?
  2. Sue’s journal pages which are like chapters in a book
  3. Highlights & News which are basically blog posts
  4. Links to helpful resources (still under construction)

For those of you who aren’t familiar with websites or blogs like this, to ensure that you will be notified when information is added to the website, you must subscribe by email.  On a laptop & most tablets, you’ll find the place where you can do this in the right-hand column.  On a smart phone, you will find it below the content for the page that you are looking at.

We are still learning, we don’t know everything about this awful disease.

Thanks!

Thanks to Lesley B., Sally R., Dave M. and Gerry M. for going through the website looking for links that didn’t work, things that didn’t read well and typos.  We couldn’t have done it without you.

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Welcome!
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