I Am Not a Mutant

This continues where page I Want to Be a Mutant ends.

I stand corrected. The genetic testing we had done by ArcticDx DID screen for complement factor I. I did not remember correctly. Mea culpa. I was in error.

Now the problem becomes this: I don’t have it. Everything else – OK, almost everything else – has one or two stars next to it. Next to complement factor I is a negative sign.

Unless I am also misinterpreting that, I would be a non-responder to ‘lamp stuff’. I guess someone else gets to be Storm. I am apparently not a mutant.

Not sure if that is good news or bad news. Reasonably sure being part of the lampalizumab study would keep me out of the stem cell study. I have always wanted the stem cells. I am also not excited about having a needle in my eye every month . Remember when I was talking about primal fears? One of them is bodily integrity. That is one of my biggies.

On the other hand, the stem cell study is taking forever to get off the ground. I could be effectively blind before they get their stuff together.

‘Tis a dilemma. Not sure why Regillo said he wants me on lampalizumab without knowing if I would be a responder. Not sure how much people without complement factor I actually responded. Not thinking it was much. Maybe he is just being a scientist and looking to experiment. I would not mind except for the needle part.

I really am not as brave as you wet folks; not at all. And that is especially true when I suspect I will get no benefit from it.

That said, you people who have had genetic testing, check your charts. The way Lin and I are reading them, the gene you are looking at is CFI, fourth from the bottom. If you have little stars, you should be a responder to lampalizumab. Take the chart to your doctor and inquire if I am accurate. Remember I have been wrong before, so check it out.

Of course, since ‘lamp stuff’ is only for slowing GA, you people with early AMD or wet AMD, won’t be candidates for it either. However, knowledge is power. If you have the gene and do progress to GA, you can respond quickly to get the right treatment.

You who have not had a genetic screening, hold on a bit. This is the first treatment for GA available and it is showing what looks like a relatively large difference in effectiveness across genotypes. I suspect insurance companies will start paying for genetic testing out of self-defense. [Lin/Linda here: Medicare HAS approved the ArcticDX testing.] I could not find frequency of the I allele quoted anywhere (and my eyes were crossing trying to read the genetics info, so I quit). However, I found the frequency of some other alleles associated with AMD to be about one in three. With two chances out of three the injections will not be effective in any given person, insurance companies will pretty much insist on genetic testing in the very near future. Meaning, my dears, they pay!

And that is that. I intend to have a talk with my local retinologist in August and Regillo in December. Those of you with research capabilities, keep an eye out for the phase 3 study journal article. I would like to read it.

And the journey continues.

written June 28th, 2017

Next: A Dozen Years of Progress

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