Scary stuff indeed, Al. Awful.
I think I'd want the kids tested. And I'd be super careful about blood pressures.
I've had Mara tested for some scary communicable stuff because I'd want to know when she was younger, not older. That's different because it's not genetic, but it still seemed both difficult and necessary. I'd agree with Biohazard about the girls, that knowing is better. And if someone's working on a drug, even letting them say they've found a few more potential patients for it could help in development.
And you're not too old to be a known egg donor, though I don't know too many details about how that works. Because your sister would want your eggs, that gets you over the age hurdle where an anonymous or stranger donor would be denied, though you'd still have to find a doctor who thought you were healthy enough to donate. So if that's what you really want to do, don't rule it out. But again, would genetic testing be a good idea first? Probably.
Yikes. Scary stuff indeed. Even though (without knowing anything, of course), I'm guessing that this genetic ailment is rare, and your kids are even less genetically related. But, I completely realize this is cold comfort, based on the what if factor. I suppose you might be what-if'ing rather the tests were done or not. I'll hope for very positive outcomes for all!
$5k would cover a full sequence these days.
Sometimes the possibility and uncertainty is worse than bad news, and certainly worse than good news. Now that you know it's a possibility, for peace of mind getting them tested might be the best route.
Sounds horribly scary, al. If you do make it to the New York, and you have a few spare minutes, please do try to come to Boston for a day.
I'm probably just making a big deal out of nothing and it's on my sister's dad's side, and her evil aunt (who is truly evil in a fashion not usually found outside the pages of a faulkner novel) will never get tested in a million years as it will besmirch the xxx-xxxx name. so sure, we'll let them sequence our genes and see if we're related to wallabies and lampreys. not or. and. maybe I can get the kids excited about it on a pure science fair sure winner basis. you'd feel bad not voting for the kid related to wallabies and lampreys, who was maybe going to have a fatal aneurysm, right? so they'd have that shit locked up.
unfortunately, even on this most cheerful read of the situation, my sister is in danger of a fatal or you'll-wish-it-had-been-fatal aneurysm due to her relation to wallabies and lamprey eels. or perhaps better, in a complex causation matrix including her relationship to lampreys and wallabies. and she fell onto her face at elizabeth arden really really hard. my poor sister. what'd she ever do to anyone? can the world just not handle that amount of awesome, is that the problem? fuck.
Sorry to hear about all of this. A friend of mine (not super close) just mentioned the other day that she has lupus, which has always seemed to me to be particularly horrible in terms of not even being able to externalize the antagonist. I hope that medical science continues to advance, for all our sakes, but it is hardly comforting to think about that when you're talking about someone with so many health problems. I guess I don't have anything very clever to say except to deal with it as best you can and try to accept what you need to, so that you can be present for everyone you love. Find peace where you can.
Yeah, $5k is a lot of genetic testing these days, when spit-in-a-tube-from-home outfits that do partial analysis, like 23andme, are $99 (I haven't learned anything life-changing from them yet, but I am immune to norovirus!)
my sister has lupus :-( among other things.
Christ, how horrible. Are the kids old enough to have to understand what the test is for?
My sympathies. Also, if it doesn't have a name yet, can I suggest Wallaprey Syndrome.
you'd feel bad not voting for the kid related to wallabies and lampreys
If for no other reason than getting to sing, "More Than An Eeling".
Sympathies on your sister's ongoing struggle to stay healthy. I know how hard it is to have family that's trying to stay healthy.
About the polymorphism and the prospect of testing: A few thousand USD is the cost of fully sequencing an affected region using patented primers. Full sequencing with custom primers from a lab that is studying the region is in principle cheaper, but takes someone's expertise. Full sequencing is valuable if the affected region is highly variable between individuals, or subject to copy number variation. The much cheaper genotyping assay available commercially from a bunch of companies mentioned above is in many cases just as useful. The cases where it is just as useful are those where the polymorphisms are on single nucleotides and are present often enough in a population-- threshold level between 1 and 5 %, most likely 1% for europeans. It's usually straightforward to see just how restricted in scope the cheaper anonymous test will be, this by reading the literature. Do you know the name of the relevant gene?
Population variation in non-human organisms is only now being studied because it's cheaper than it used to be. I bet that there are lots of affected mammals, just nobody is checking whether individual horses or sheep tend to have the problem because there's no point in looking there.
Nothing to say about personal information and collaborating on a test, since the decisions are individual. If you're interested in getting in touch with others who have faced similar decisions about participating in research, you might look to patient organizations for either leukemia or ovarian cancer.
12: yes I would have to explain it. I could maybe get away with just "we're doing it for sister 13, the unluckiest girl in the world, so that she can get free medicine maybe, later. they want to compare our genes to hers and see if we're all secretly wallabies and lampreys." daughter y would be easier to lie to but older daughter x would immediately know something was up and would mope about endlessly feeling freaked out if she thought she was going to have an aneurysm. not that it's not a genuinely upsetting thought and all.
I think maybe my NYT bestseller book that I'm going to write about building my house on an indonesian island and learning from the simple wisdom of the villagers needs to expand, so as to include us importing wallabies and lampreys and learning from their simple wisdom also, that it would turn out we secretly already shared. "lombok among the lampreys"; that sort of thing. it's east of the wallace line, at least.
Shit, alameida, all that really sucks.
If you're sharing genes with wallabies and lamprey eels, you should at the very least be able to get some cool superpowers out of the deal, right?
it's east of the wallace line, at least.
Nature's redlining.
yeah! the power to...um...be a smaller type of kangaroo? that's mind-bendingly cute? and also...ah...move ancient orators like Crassus to shed tears of dismay when I die..or more helpfully, perhaps, suck the blood out of things with my jawless endless rows of teeth? maybe this is a dune thing and I will discover the source of the spice and all this suffering on sister 13's part will have been worth it.
Indonesia is certainly the source of some spices.
australian bed-mate reports that kangaroos and their ilk are astoundingly strong.
The zoo's baby wallaby is extremely cute, too. I'm not as keen on eels.
perhaps I would serve the world best grilled and then made into nigiri. in the eely respect. eelish. doesn't seem a superpower exactly. if I could make unagi nigiri appear suddenly out of nowhere then that would be kind of a good superpower in a loaves and fishes way but I would quickly start muttering under my breath about otoro and stuff.
23: You could kill people by having them eat a surfeit of you. In lamprey mode. A surfeit of wallabies might kill through cuteness. Actually I bet they have nasty claws and can claw the everloving shit out of a person who mistakes them for merely adorable.
Sometimes the possibility and uncertainty is worse than bad news
"Reality is not the terror, possibility is."
Shitty news all around, very sorry.
Are you confident enough that this is an actual disorder, btw? I don't know anything about genetic medicine, and probably it's true, but the description of this specialist's behavior gives me a bit of a hammer-nail vibe.
minivet: I agree that it seems silly that everything is about fatal aneurysms but that's just par for the course in my family and I don't suspect the geneticist of any shoddy sequencing.
Can I ask what kind of aneurysm the genetic disorder causes? Aortic? Cerebral? Other? All? I work for a company that treats abdominal aneurysms (probably should go presidential, but what the hell).
Also, if your sister smokes, she should stop NOW. It's the number one predictor in the general population, even more than family history.
I'd test, yeah. Best of luck to all.
28.2: Ugh. Thanks for that reinforcement.
Wombats are cuter than wallabies.
Alameida, you, your sister, your daughters, and the lampreys and wallabies have my sympathies. It's a tough place to be, and a tough situation to put a kid through, but if this is something that they're going to have to deal with in their lives, better that they learn earlier rather than later. The more time they have to adjust to the knowledge, the better they will be able to handle it, I think. And if they don't have it, then that'll be a weight off them and you. Here's to hoping they're free.
Your daughters are extraordinarily lucky, regardless of their genes.
The love that makes you want to stand under the sword of Damocles on their behalf is what they know from you -- and it's that kind of love that gives people the power to deal with whatever craziness or tragedy life may throw at them.
Test or don't test, know or don't know, I don't have any advice on that. All I can do is to quote my old Irish boss, whom I adored and who had had more grief due to genetically linked illness in her life than anyone should have to endure: "If you're meant to hang, you won't drown."
My thoughts are with you and your sister and your children.
chopper: cerebral. and she smokes like a fucking idiot despite having this precancerous condition in her larynx. she has a high chance of developing cancer from it, 1 in a single digit number that I've apparently decided to forget, but then if she gets the cancer it has a 2% survival rate, it's worse than cervical cancer. she's also in horrible pain all the time, such that she can't go anywhere or do anything a lot of the time. so she figures she's just rolling the dice anyway and is probably going down early from some stupid condition so she might as well smoke and enjoy herself some fine tobacco because fuck it. also why not scew a dumb hot dude (answer: a) you have to talk to him sometimes and b) he will stalk you later.)
To be fair to dumb men, I've known several who weren't stalkers.
I don't know shit about cerebral aneurysms, other than they are treatable endovascularly if caught in time. So lots of (additional) tests in your sister's future.
On the smoking front, like I said above, it doesn't stop me. So I sympathize.
why not scew a dumb hot dude
Because she's only looking at the sample mean?
it has a 2% survival rate, it's worse than cervical cancer
You must have meant a different kind of cancer, surely? Cervical cancer is one of the slowest growing cancers, I thought. Hence the recent change in how often they recommend getting pap smears.
um, I guess I don't know. I was thinking of a friend's sister who had a poorly read pap smear and then by her next pap smear she was untreatably ill. but perhaps she was unusual in that respect. I don't know then, pancreatic or something. at any rate this esophageal/laryngeal cancer is apparently very inclined to be fatal. the doctor checks for it but if they find that it's there then they can't do much of anything. I suppose it's because one's neck is narrow--not like they can go slicing big bits off. and thanks for the supportive comments everyone.