ACTA 2 anyone?
Interesting news in my world recently. The mystery of what caused my aorta to explode apparently has been solved–and it’s very docile name is ACTA2
I was a little disappointed to hear that from the geneticist’s nurse the other day when I finally talked to her about my test results, which were taken a few months ago now, I suppose. The found a genetic marker in ACTA 2–which as you may have clicked above,
“The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is part of the actin protein family. Actin proteins are important for cell movement and the tensing (contraction) of muscles.
Smooth muscle α-2 actin is found in smooth muscle cells. Smooth muscles line the internal organs, including the blood vessels, stomach, and intestines. Within smooth muscle cells, smooth muscle α-2 actin forms the core of structures called sarcomeres, which are necessary for muscles to contract. Smooth muscles contract and relax as part of their normal function without being consciously controlled.
Layers of smooth muscle cells are found in the walls of the arteries, which are blood vessels that carry blood from the heart to the rest of the body. Smooth muscle α-2 actin contributes to the ability of these muscles to contract, which allows the arteries to maintain their shape instead of stretching out as blood is pumped through them.”
I found a LITTLE bit about it, some studies back where they identified it in 2007–by studying some 14 families that had some mutation of it, which I apparently have, though I have only heard that as a superficial diagnosis, with no further information as I think there are some 30 variants they have found so far. Now, my WTF moment was kind of like, REALLY, that is as far as we have gotten with calling it anything, though I did find this in my reasearch:
AAT6
ACTA_HUMAN
actin, aortic smooth muscle
ACTSA
alpha 2 actin
alpha-actin-2
cell growth-inhibiting gene 46 protein
growth-inhibiting gene 46
Those are the other names for the thing–the gene defect I have from one side or the other. I suppose the blame I have placed on my mother might indeed belong to my father, but for some reason I don’t think so. Knowing this now makes me want to do a larger study and maybe contribute to one of the dna pools of data like 23andme and whatever the other one is. Part of me is grateful I don’t have marfan’s syndrome since it would likely affect other areas of my function. As it is having shit for vessels doesn’t bode well for the remaining intact ones, mostly in my stomach. Good thing I am great at starving myself due to a general sense of poverty and being actually I guess pretty picky about food I want to eat. So they aren’t stressed though I am not well nourished in any sense of the word lately…I am still navigating this world of hell I sit in with all my payment plans and hating Denver and hating our house and wanting to move to…wait for it….HOLLYWOOD. Oh my god, no, this is not the I want to go be a moviestar or whatever Hollywood experience but the fun and movement and city and happy and color and Dr Seuss trees and the gritty like NY smelling better with some issues popping up like are here (the homeless people these days look like fucking war victims, all tan and dirty and ribs poking out with dingy sparse Jesus beards…pissed themselves a few times and sitting in it…my god what the hell has the world come to? But yeah….give me a beachy life and access to the ocean. I know I will fall in one day, but why not be happy before it happens?
Well, yes, we have a fucking crazy old man running our country. A crazy old dangerous man because he is ADDICTED to ego coaxing and power and if he doesn’t get that…well, world look out. We’re sorry. Generally the reasonable among us outnumber those who did this—though I can’t say every reasonable person I know voted. Enough on that.
So I have a gene issue I really know nothing about…YET, but what I have read online anyways–I have sent a friend to find what she can on it–but they have got to come up with a better name. Ehler Danlos and Marfan Syndrome at least have some bite to them. Your gene is fucked up—AFTER ALL OF THE FUCKING SURGERIES!?!?! MOTHERFUCKER. That gives me nothing but a nightmare with a docile name and no context but my own experiences. I am unsure anyone has had quite the repairs I have had…I mean…honestly? Almost everything, literally…I gotta ask them what, if anything up there is still left…I mean–the dissections and dissections and this happened in 1995 for the first time and only NOW…the strange thing is…I know it is something that is inherited and nobody seems to be expressing any symptoms but me and my sister (maternal blood) just had baby number 2. Though–if you recall–part of the reason I even found my birth family was to inform them it was likely genetic and they should get their kids tested. I don’t think anyone ever did…and now it is fucking serious, but I am really not a respected person in literally any circle but the one Don and a few close friends sit in, I suppose.
Man, life is a motherfucker. There is no one to blame for a gene issue, but God, I guess, if you are into that kinda thing. I personally have not been helped with all of my wishes and prayers as of late and that totally sucks. Actually obviously NEVER. Ha. I got married with no ring. No dress. No party. Nothing. The hospital is suing me still. The student loan people recently sent me a bill for $1500–um. Yeah, I kinda wanna send them a photograph of my slit wrists or something.
I am gonna ask this one more time. Universe? You hear me? I need some serious help? Please?
