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!]

Next: Genetic Rant & Roll – The Miniseries: Part 7

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