The vanishing family: Life in the shadow of a cruel genetic mutation(nytimes.com)
nytimes.com
The vanishing family: Life in the shadow of a cruel genetic mutation
https://www.nytimes.com/2023/07/20/magazine/family-genetics-frontotemporal-dementia.html
41 comments
http://archive.today/6QqLR
The disease is frontotemporal dementia (FTD). Genetic FTD is caused by mutations in genes C9ORF72, MAPT, or GRN. These can be inherited, and are dominant.
Such a sad story, I could not imagine living with what feels like a ticking timebomb strapped to my head.
Isn’t that the human condition though?
Yes, except imagine your ticking time bomb set to go off 40 years before everyone else’s.
Also, it doesn't kill you but will make you an burden to all of your loved ones.
Eh, if i start having symptoms I'm out. I'm not wasting away for decades being a burden to family and society. Rather just get it over with.
I used to think this way too. Now I recognize I was naive. It's a gradual decline, and once you get to the point that you are no longer providing any value, it's probably too late to take yourself out.
That requires decision-making and rationality of the sort that OP shows may be some of the first things to go.
One notable aspect:
"...When she decided to start a family of her own, they had a tool available for not passing on FTD: selective embryo transfer. C. could have her embryos frozen, and doctors could implant only the ones that did not have the mutation. More than a year of arduous procedures followed: fertility treatments and embryo retrieval followed by four attempts to implant, none of them successful. “My body did not like frozen embryos,” C. said. She was readying herself for another retrieval and a fifth implantation when she found she’d become pregnant naturally.
This, she told me, wasn’t planned — though given the difficulty they were having in conceiving, they weren’t inclined to be vigilant about birth control. She chuckled dryly when she told the story; a life filled with unexpected twists gets one more. She and her husband had all the obvious worries about the family mutation, but by then they had plenty of practice playing through those fears. Instead of fixating on what their child might inherit, C. thought about the clock ticking in more ways than one. She was 36, and after four attempts, it felt a little like now or never. With everything she had lived through and everything that was coming, she believed that good fortune was too precious to turn her back on. Who’s to say what other parents may be passing along to their children, genetic risks they don’t know about and that no one can test for? And more broadly: Isn’t she allowed to want this for herself? Doesn’t everyone have the right to a family?
Her aunts, uncles and cousins all had to be wondering about the genetic implications of having children. But the mutation casts a shadow over every interaction: Those who have it are too preoccupied to question the choices of others, and those who don’t feel too guilty to second-guess those who do. Barb, for one, has never broached the subject with C.
...They have not tested their son for the mutation. That, C. told me flatly, will be his decision. “He’ll learn eventually that there’s a possibility,” she said. “I’m not going to ruin his life, you know, worrying about this.” And if her son is diagnosed one day? It’s easy for her to daydream about new genetic editing techniques like CRISPR swooping in to save him with one simple, graceful, elegant snip — deleting the problematic mutation from his DNA. No cure is imminent, but that can always change, C. tells herself. “I think that in the next 30, 40 years, there’s going to be a lot of movement on this stuff,” she said. “I think he has a better chance than I do — and definitely more than my mom did.”"
"...When she decided to start a family of her own, they had a tool available for not passing on FTD: selective embryo transfer. C. could have her embryos frozen, and doctors could implant only the ones that did not have the mutation. More than a year of arduous procedures followed: fertility treatments and embryo retrieval followed by four attempts to implant, none of them successful. “My body did not like frozen embryos,” C. said. She was readying herself for another retrieval and a fifth implantation when she found she’d become pregnant naturally.
This, she told me, wasn’t planned — though given the difficulty they were having in conceiving, they weren’t inclined to be vigilant about birth control. She chuckled dryly when she told the story; a life filled with unexpected twists gets one more. She and her husband had all the obvious worries about the family mutation, but by then they had plenty of practice playing through those fears. Instead of fixating on what their child might inherit, C. thought about the clock ticking in more ways than one. She was 36, and after four attempts, it felt a little like now or never. With everything she had lived through and everything that was coming, she believed that good fortune was too precious to turn her back on. Who’s to say what other parents may be passing along to their children, genetic risks they don’t know about and that no one can test for? And more broadly: Isn’t she allowed to want this for herself? Doesn’t everyone have the right to a family?
Her aunts, uncles and cousins all had to be wondering about the genetic implications of having children. But the mutation casts a shadow over every interaction: Those who have it are too preoccupied to question the choices of others, and those who don’t feel too guilty to second-guess those who do. Barb, for one, has never broached the subject with C.
...They have not tested their son for the mutation. That, C. told me flatly, will be his decision. “He’ll learn eventually that there’s a possibility,” she said. “I’m not going to ruin his life, you know, worrying about this.” And if her son is diagnosed one day? It’s easy for her to daydream about new genetic editing techniques like CRISPR swooping in to save him with one simple, graceful, elegant snip — deleting the problematic mutation from his DNA. No cure is imminent, but that can always change, C. tells herself. “I think that in the next 30, 40 years, there’s going to be a lot of movement on this stuff,” she said. “I think he has a better chance than I do — and definitely more than my mom did.”"
This is one of the most fascinating stories I've seen from the Times. I'm honestly speechless. Life is so strange.
This story is heartbreaking, FTD is a horrible disease.
Suggested enhancement:
An icon beside articles like this showing that it is behind a paywall.
You can easily read the article in Firefox. Switch to Reader mode (little document icon in the right side of the address bar). Then refresh page.
How HN handles this is in the FAQ at https://news.ycombinator.com/newsfaq.html and there's more explanation here:
https://news.ycombinator.com/item?id=10178989
https://hn.algolia.com/?dateRange=all&page=0&prefix=false&so...
https://news.ycombinator.com/item?id=10178989
https://hn.algolia.com/?dateRange=all&page=0&prefix=false&so...
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The usual approach is to just find the archive.is/today/ph link in the comments to read sans-paywall.
It is slightly annoying to click the link, get stuck behind the paywall, then have to return to HN, go into the comments thread, and find the archive.is if it exists, and then make it yourself if it doesn't. It'd be nice if the OP could submit a non-paywalled link alongside the original one. I assume HN feels like that would be crossing a legal or ethical line though.
If it makes you feel any better your click -> see paywall -> leave likely counts as a bounce. But I agree, archive links should be default. My strategy is to just immediately pass any major news outlet article through an archive service because they legitimately do not deserve my money or my eyes.
I’d be shocked it having it in a comment vs the article link makes a legal difference, and it seems like an odd ethical one.
FWIW, I've been making a point of submitting paywall/archive links along with my own submissions for a few years now. I'd encourage that practice as well.
<https://hn.algolia.com/?dateRange=all&page=2&prefix=true&que...>
<https://hn.algolia.com/?dateRange=all&page=2&prefix=true&que...>
more annoying than paying for journalism?
The problem with paying is that there are an unreasonable number of publications out there to subscribe to. It would cost an absolute fortune to support every journalist for every article out there. Given HN is a link aggregator you have to assume that most publishers are going to be represented here.
If there were a quick and easy way to pay a reasonably small fee per article (similar to what we used to do with newspapers) then your unnecessarily condescending comment may have some merit.
If there were a quick and easy way to pay a reasonably small fee per article (similar to what we used to do with newspapers) then your unnecessarily condescending comment may have some merit.
Well that's going to be something that people are going to have to figure out morally isn't it.
On one hand, yell about the death of good/independent journalism, on the other never ever pay for any of it.
On one hand, yell about the death of good/independent journalism, on the other never ever pay for any of it.
> …on the other never ever pay for any of it.
How do you know that the parent comment here doesn’t ever pay for journalism? For all you know they pay for literally every publisher out there except for this particular one.
I pay for some journalism, but I reader mode others. Things rarely exist at the polar extremes. Usually my willingness to pay depends on the value proposition, if they’re asking me to pay for a lot of content I have no interest in I’m not likely to subscribe.
Perhaps it’s less a moral question for the consumer and more a logistical question for publishers to make it viable to pay for only the content we actually consume.
How do you know that the parent comment here doesn’t ever pay for journalism? For all you know they pay for literally every publisher out there except for this particular one.
I pay for some journalism, but I reader mode others. Things rarely exist at the polar extremes. Usually my willingness to pay depends on the value proposition, if they’re asking me to pay for a lot of content I have no interest in I’m not likely to subscribe.
Perhaps it’s less a moral question for the consumer and more a logistical question for publishers to make it viable to pay for only the content we actually consume.
It all comes down to motivated thinking and rationalization.
The pizza place doesn't sell peperoni I want à la carte, so I steal them. This is OK because I sometimes pay for food elsewhere.
The pizza place doesn't sell peperoni I want à la carte, so I steal them. This is OK because I sometimes pay for food elsewhere.
The pizza place doesn’t require you to sign up for a monthly pizza subscription to get a single slice.
No, but it decided what goods it will sell and what it won't.
If the pizza place only offered monthly subscriptions, do you think that would make it ethical to steal a slice?
Not liking the price or product offered isn't a moral justification for stealing it.
If the pizza place only offered monthly subscriptions, do you think that would make it ethical to steal a slice?
Not liking the price or product offered isn't a moral justification for stealing it.
The problem with subscriptions is that you don’t have unlimited means, which means you can only afford a certain number of subscriptions. A subscription is always more than the cost of a single purchase, so by forcing you to subscribe the company is coercing you into also choosing them for the next purchase as well.
Yeah, you can go to another pizza place to get the pepperoni that you want, but you have already subscribed to the first place and it is a nontrivial decision to not utilize the subscription you already have. Plus the new place will require you to subscribe and now you’re paying far more than the two slices would have actually cost you if you were allowed to buy by the slice.
If you want to talk ethics, pursuing exclusively a business model that is anticompetitive via a reduction in consumer choice per transaction is on the wrong side of that line. I don’t fault people for opportunistically avoiding the paywall.
Yeah, you can go to another pizza place to get the pepperoni that you want, but you have already subscribed to the first place and it is a nontrivial decision to not utilize the subscription you already have. Plus the new place will require you to subscribe and now you’re paying far more than the two slices would have actually cost you if you were allowed to buy by the slice.
If you want to talk ethics, pursuing exclusively a business model that is anticompetitive via a reduction in consumer choice per transaction is on the wrong side of that line. I don’t fault people for opportunistically avoiding the paywall.
All I'm hearing is that you don't like the price and think that justifies stealing.
You can go to a newsstand and by a NY Times.
This is as bad of an argument as "You wouldn't steal a car" regarding piracy of media. Stealing a physical thing is never the same as obtaining a digital copy of something.
I think "You wouldn't steal a car" is a reasonable comparison.
In both situations you're taking something without the consent of the owner
In both situations you're taking something without the consent of the owner
This was an interesting, relevent article in the leading newspaper in the U.S. Many peope subscribe, and if it's important enough, you can go to the Library to read it.
Are you saying that relevent articles in major newspapers, like the WSJ, NYTimes, or WaPo shouldn't be discussed here, and only things on "free" sites like BuzzFeed, and PerezHilton are good?
Are you saying that relevent articles in major newspapers, like the WSJ, NYTimes, or WaPo shouldn't be discussed here, and only things on "free" sites like BuzzFeed, and PerezHilton are good?
No? Where did I say that? I just don’t blame people for bypassing that paywall.
As of 21 June 2023, there were 52,642 distinct sites (as defined by HN) which have made just the front page (30 items/day). That's roughly 3% of all submitted posts, which would be a rather larger site tally.
How many of those 52,642 sites do you suggest HN members subscribe to?
If we restrict that to only the sites with 100+ front-page submissions, that number falls to 149.
Of the sites I've identified as "general news" (all sites w/ >= 17 appearances, plus a few others), that list is 146.
Specifically: nytimes.com, bbc.com, bbc.co.uk, theguardian.com, washingtonpost.com, reuters.com, npr.org, cnn.com, slate.com, vice.com, latimes.com, cnet.com, yahoo.com, sfgate.com, cbc.ca, cnbc.com, guardian.co.uk, bits.blogs.nytimes.com, vox.com, salon.com, time.com, nymag.com, telegraph.co.uk, boston.com, newsweek.com, chronicle.com, msn.com, axios.com, news.com.com, propublica.org, independent.co.uk, timesonline.co.uk, mercurynews.com, theglobeandmail.com, pbs.org, theintercept.com, usatoday.com, buzzfeednews.com, spiegel.de, rollingstone.com, thestandard.com, go.com, smh.com.au, cbsnews.com, abc.net.au, nbcnews.com, seattletimes.com, aljazeera.com, bloombergview.com, motherjones.com, firstlook.org, thehill.com, apnews.com, informationweek.com, news.com, thedailybeast.com, huffingtonpost.com, theage.com.au, csmonitor.com, nwsource.com, japantimes.co.jp, thestar.com, bostonglobe.com, dw.com, indiatimes.com, nypost.com, ap.org, chicagotribune.com, sfchronicle.com, dailymail.co.uk, news.com.au, foxnews.com, kqed.org, theatlanticwire.com, scmp.com, texasmonthly.com, wbur.org, yahoo.net, swissinfo.ch, nationalpost.com, spectator.co.uk, sfweekly.com, detroitnews.com, theweek.com, nzherald.co.nz, washingtonexaminer.com, aljazeera.net, cbslocal.com, nltimes.nl, weeklystandard.com, ctvnews.ca, miamiherald.com, nydailynews.com, thetimes.co.uk, dallasnews.com, startribune.com, bostonherald.com, euronews.com, kuow.org, themorningnews.org, upi.com, globalnews.ca, guardiannews.com, theherald.com.au, thesun.co.uk, belfasttelegraph.co.uk, houstonchronicle.com, ibtimes.co.uk, koreaherald.com, metro.co.uk, mirror.co.uk, seattleweekly.com, standard.co.uk, dailyherald.com, huffingtonpost.co.uk, huffingtonpost.com.au, huffpost.com, inquirer.com, ktvu.com, ocweekly.com, sundayherald.com, theweek.co.uk, wpri.com, wtsp.com, americanchronicle.com, annarborchronicle.com, augustachronicle.com, catholicherald.co.uk, dukechronicle.com, heraldsun.com.au, katu.com, kdvr.com, kfor.com, ktla.com, myfox8.com, myfoxdc.com, myfoxny.com, news-herald.com, news.google.ca, pressherald.com, thechronicleherald.ca, timesherald.com, wttw.com, wtvr.com, wunc.org, wvgazette.com.
Those constitute 8.47% of all HN front-page posts.
I would suggest that expecting the 600k+ active HN participants, let alone the 5 million or so total monthly users, to individually subscribe to more than a very small handful of such sites is entirely unrealistic.
(Sources: archive of HN front pages I've been studying for the past few months, as mentioned multiple times in recent HN comments, and a Whaly.io study from 2022 for overall member tallies: <https://whaly.io/posts/hacker-news-2021-retrospective>. Monthly users per dang about two months ago: <https://news.ycombinator.com/item?id=36146958>.)
How many of those 52,642 sites do you suggest HN members subscribe to?
If we restrict that to only the sites with 100+ front-page submissions, that number falls to 149.
Of the sites I've identified as "general news" (all sites w/ >= 17 appearances, plus a few others), that list is 146.
Specifically: nytimes.com, bbc.com, bbc.co.uk, theguardian.com, washingtonpost.com, reuters.com, npr.org, cnn.com, slate.com, vice.com, latimes.com, cnet.com, yahoo.com, sfgate.com, cbc.ca, cnbc.com, guardian.co.uk, bits.blogs.nytimes.com, vox.com, salon.com, time.com, nymag.com, telegraph.co.uk, boston.com, newsweek.com, chronicle.com, msn.com, axios.com, news.com.com, propublica.org, independent.co.uk, timesonline.co.uk, mercurynews.com, theglobeandmail.com, pbs.org, theintercept.com, usatoday.com, buzzfeednews.com, spiegel.de, rollingstone.com, thestandard.com, go.com, smh.com.au, cbsnews.com, abc.net.au, nbcnews.com, seattletimes.com, aljazeera.com, bloombergview.com, motherjones.com, firstlook.org, thehill.com, apnews.com, informationweek.com, news.com, thedailybeast.com, huffingtonpost.com, theage.com.au, csmonitor.com, nwsource.com, japantimes.co.jp, thestar.com, bostonglobe.com, dw.com, indiatimes.com, nypost.com, ap.org, chicagotribune.com, sfchronicle.com, dailymail.co.uk, news.com.au, foxnews.com, kqed.org, theatlanticwire.com, scmp.com, texasmonthly.com, wbur.org, yahoo.net, swissinfo.ch, nationalpost.com, spectator.co.uk, sfweekly.com, detroitnews.com, theweek.com, nzherald.co.nz, washingtonexaminer.com, aljazeera.net, cbslocal.com, nltimes.nl, weeklystandard.com, ctvnews.ca, miamiherald.com, nydailynews.com, thetimes.co.uk, dallasnews.com, startribune.com, bostonherald.com, euronews.com, kuow.org, themorningnews.org, upi.com, globalnews.ca, guardiannews.com, theherald.com.au, thesun.co.uk, belfasttelegraph.co.uk, houstonchronicle.com, ibtimes.co.uk, koreaherald.com, metro.co.uk, mirror.co.uk, seattleweekly.com, standard.co.uk, dailyherald.com, huffingtonpost.co.uk, huffingtonpost.com.au, huffpost.com, inquirer.com, ktvu.com, ocweekly.com, sundayherald.com, theweek.co.uk, wpri.com, wtsp.com, americanchronicle.com, annarborchronicle.com, augustachronicle.com, catholicherald.co.uk, dukechronicle.com, heraldsun.com.au, katu.com, kdvr.com, kfor.com, ktla.com, myfox8.com, myfoxdc.com, myfoxny.com, news-herald.com, news.google.ca, pressherald.com, thechronicleherald.ca, timesherald.com, wttw.com, wtvr.com, wunc.org, wvgazette.com.
Those constitute 8.47% of all HN front-page posts.
I would suggest that expecting the 600k+ active HN participants, let alone the 5 million or so total monthly users, to individually subscribe to more than a very small handful of such sites is entirely unrealistic.
(Sources: archive of HN front pages I've been studying for the past few months, as mentioned multiple times in recent HN comments, and a Whaly.io study from 2022 for overall member tallies: <https://whaly.io/posts/hacker-news-2021-retrospective>. Monthly users per dang about two months ago: <https://news.ycombinator.com/item?id=36146958>.)
I always wonder: how does that work? Is it a subscriber legally sharing paywall content with their share privileges, which i have done, but not aware of archive.is, or is it like copyright violation?
My understanding is that it is blatent copyright violation. Archive today is based in Russia and I assume they simply ignore legal complaints.
It is weird that this site allows people to post those paywall-circumvention sites.
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