So, I did the 23andMe thing.
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Yeah yeah, I know. Privacy etc. But in my estimation, that ship has sailed a long time ago. Also, I'm adopted. By state design, I don't know shit about my ancestry or my family-specific health risks. (My weird ass eye problem? That's so weird I pretty much need to live near Hopkins for the foreseeable future because only a handful of ophthalmologists have ever freaking met someone with it? The thing that can blind me without my realizing? Genetic lottery, baby.) And my chances of getting that information through a state agency are zero.
So, I signed up for the extended package thing. Results in a month.
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@89th said in So, I did the 23andMe thing.:
What’s your eye thing?
Oh you missed that?
You shouldn't have asked. It's extremely complicated and as much as I've read, I learn more every time I visit my doc.So, I go in for a regular optometrist visit a few years back, and they do the standard pressure check. It's high. Like, borderline concerning high. They refer me to an ophthalmologist, who does a much more comprehensive test.
I find out I have pigment dispersion syndrome. The part of my eyes that give them their color rubs against another part of the eye, and the pigment flakes off and mixes in with my eye fluid. This is concerning because the eye continues to produce fluid at a constant rate, no matter what, but the pigment ruboff can create a blockage in your eye's drainage tubes. When this happens, your eye pressure spikes. If it spikes enough, permanent damage occurs to your optic nerve. Which means permanent spot blindness. (The disease is then referred to as Pigmentary Glaucoma. It has very little in common with traditional glaucoma, but that's what they call it.)
Most of the time, you receive no indication at all that this is even happening. Unlike regular glaucoma, which is constant high pressure, my risk is pressure spikes, which can be very damaging but also leave little trace they ever happen. And we see in three dimensions partly because there's a good amount of overlap in the coverage of each eye's foveal vision, so basically you don't even notice you've been going blind until you're really fucked and it's long past time any doctor can help you.
It's a very weird, very rare thing, but it affects Aryan looking folks more than others.
Ophthalmology is no joke. On top of being a doctor, you've got to be one seriously smart motherfucker, even amongst doctors, to get into that specialty. And few of them ever meet patients with this disease. Many have precisely zero practical experience with it.
There are ophthalmology conferences across the country like any other community of medical specialties. My doc has been a keynote speaker for this disease, and has been the principal author on a number of research articles on it. Basically I have to go through a very strange battery of tests twice a year (seriously, they're very weird, very creepy and they take half a day), but even the tests are basically a way of me telling my doctor I'm having problems; there's no test they can do to just "know." But, if shit hits the fan, they can do emergency surgery to clear the blockage and save my vision. My doc has done this procedure many times. That's why I go to her.
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@89th said in So, I did the 23andMe thing.:
Holy shit that sucks man. Glad you’re with a top doc though.
Straightup, I went to a rando ophthalmologist in the Ashburn area shortly after I got the referral, and they told me (1) I was already blind in many areas, (2) nothing could be done about it, and (3) he strongly suggested I go somewhere else because he has no experience with my disease.
That was a happy-cake kinda day.
After finding my current doc, turns out (1) wasn't true at all, and as long as I by God never miss my appointments, I'll most likely be okay. So, could be worse.
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I didn't realize it was that rare. Yes, it's fortunate that your ophthalmologist is in your area.
As for the 23 and Me....friend of mine did it and found out that there was some Chinese in her background. Hers was supposedly a full blooded Mexican family. After some snooping, it turned out great-grandma had something going on back in the day. The only one not laughing about this discovery was my friend's mother, who found out that her mother was the product of that affair. Ah, the things you learn.
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@89th said in So, I did the 23andMe thing.:
Holy shit that sucks man. Glad you’re with a top doc though.
Dit-to!
I guess we already know the answer to this, but: with all the research etc that your doc is involved with, is there any hope of cure coming down the pike at all?
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@Catseye3 said in So, I did the 23andMe thing.:
@89th said in So, I did the 23andMe thing.:
Holy shit that sucks man. Glad you’re with a top doc though.
Dit-to!
I guess we already know the answer to this, but: with all the research etc that your doc is involved with, is there any hope of cure coming down the pike at all?
No "cure," it's not really that kind of a thing. But really, if you just catch it early and stay serious about your appointments, chances are very high your eyesight stays intact. So the biggest thing is getting tested so that you know you have it. My doc tells me the emergency surgery isn't even super complicated—it just helps if you've done it before. People get screwed from this when they don't know they have it, or not take it seriously.
Also, your eyes flake off so much material that by the time you're 50 or so, the two parts of your eye don't really touch anymore, so chances become almost nil you'll have a serious spike after that.
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@Friday said in So, I did the 23andMe thing.:
As for the 23 and Me....friend of mine did it and found out that there was some Chinese in her background. Hers was supposedly a full blooded Mexican family. After some snooping, it turned out great-grandma had something going on back in the day. The only one not laughing about this discovery was my friend's mother, who found out that her mother was the product of that affair. Ah, the things you learn.
That is awesome.
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My wife's brother and wife and my oldest and my youngest did the DNA thing.
- Discovered wife's grandfather had hid his Jewish roots his entire life.
- Found a 90+ year old cousin of wife's mother still alive and have had a great re-union with her and found out lots of surprising family history.
- Had to come clean to my twin girls that they were IVF and I am not their biological father.
- Connected with the bio-dad and he is a very nice guy, has a bitchy 2nd wife that isn't happy about this, and found my girls have about 6 half-siblings.
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"Now look here, you Baltic gas passer... " - Mik, 6/14/08
The saying, "Lite is just one damn thing after another," is a gross understatement. The damn things overlap.
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Results are in: I am very, very much a bloody Limey.
I have some ancestors in Glasgow, Edinburgh and South Yorkshire, but the vast majority is from London. Freaking London. It's far an away the strongest match. 90+ percent.
I'll never hear the end of it from @Doctor-Phibes .
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@Aqua-Letifer You are in for sh*t.
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I mean, just look at this. It's not like it's some great-great-great so-and-so, it's everyone I'm related to.
FFS.
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Holy hell.
How accurate are these things, does anyone know? Like, what's the variability?
In the DNA ancestry portion, it gives you a list of other users you're related to and by how much.
I have 2 freaking people who are first cousins, once removed. One would be, according to 23andMe, a nephew of one of my biological parents, and one would be one of their first cousins.
That's... a... little close.
Sent them both messages, told them everything I know about my biological parents, asked if that sounded like anyone they know. Fuck it, worth a shot.
