[HN Gopher] Cystic fibrosis breakthrough has given patients a ch...
___________________________________________________________________
Cystic fibrosis breakthrough has given patients a chance to live
longer
Author : cowboysauce
Score : 367 points
Date : 2024-03-07 13:49 UTC (3 days ago)
(HTM) web link (www.theatlantic.com)
(TXT) w3m dump (www.theatlantic.com)
| leetrout wrote:
| I lost a cousin and a family friend to CF. Both in their 20's.
| One after a lung transplant added some time.
|
| It is such a horrible disease and the breakthroughs are amazing.
| So many families will be much more fortunate than mine and I am
| happy for them!
| forgetfreeman wrote:
| I had a coworker with CF that started this treatment. Over the
| course of their first year of treatment, as it became plain to
| them just how effective it was and what the implications for
| their long-term survival might be, their behavior changed
| drastically. Within 18 months of starting treatment they were
| showing worrying indications of both budding mental health issues
| and heavy substance abuse. Their marriage, which had been stable
| for years, was in shambles as well. I can only speculate that
| their exuberance at being given a stay of execution lead them to
| "oversteer" into some questionable lifestyle choices.
| bane wrote:
| This section seems to speak to your observation (edited for
| brevity):
|
| _Doctors told me they could think of only one other comparable
| breakthrough in recent memory: the arrival of powerful HIV
| drugs in the 1990s. Like Trikafta, those drugs were not a cure,
| but they transformed AIDS from a terminal illness into a
| manageable chronic one. Young men got up from their deathbed,
| newly strong and hale. ... This was a remarkable turn of
| events. But it elicited a complicated mix of emotions, not all
| of them joyful. Some patients who were no longer dying grew
| depressed, anxious, and even suicidal at the thought of living.
| This phenomenon became known as "Lazarus syndrome."
|
| Death is an end, after all. Life comes with problems...the
| writer Andrew Sullivan, who is HIV-positive, described life
| after the advent of the HIV drugs in his essay "When Plagues
| End":_ When you have spent several years
| girding yourself for the possibility of death, it is not so
| easy to gird yourself instead for the possibility of life. What
| you expect to greet with the euphoria of victory comes instead
| like the slow withdrawal of an excuse. And you resist it.
| The intensity with which you had learned to approach each day
| turns into a banality, a banality that refuses to understand or
| even appreciate the experience you have just gone through.
|
| _For some HIV patients, their reversal of fortune seemed
| unreal. "He doesn't trust what's happening to him," one doctor
| said about a patient who had made a dramatic recovery, yet
| found himself in psychological distress. "_
| gfodor wrote:
| I have CF, and my whole life I avoided things like CF
| communities explicitly because I felt these ties to the disease
| would lead to a crisis in my life if it was ever something I
| could stop centering my life around.
| Aurornis wrote:
| Chronic illness forums are almost universally terrible. I try
| to navigate the online communities for a family member's
| disease to keep up with new developments. A decade ago I
| found some value in the way they presented news and research
| and anecdotes.
|
| Now, the forums are overrun by small numbers of constantly
| online members who feel the need to dominate every
| conversation. The content has become almost entirely venting
| and memes, with an unreasonable amount of alternative
| medicine being pushed as fact. It's understandable that
| they're frustrated, to say the least, but the way their
| frustration gives way to a communal rage against doctors has
| weirdly opened doors to alternative medicine peddlers. It's
| disgusting to me to see how the alternative medicine pushers
| have arrived with open arms and comforting smiles for
| vulnerable communities, which slowly becomes a sales pitch
| for their products.
|
| I've seen everting from people peddling custom diet
| consulting based on your 23andMe results to invitations to
| private, paid Telegram channels where they supposedly share
| their secret cures, to doctors from Eastern Europe who claim
| to have cured the condition (which has eluded many
| researchers and pharmaceutical companies) with a custom
| treatment made from the patients' own urine. The way these
| communities set themselves up to rage together at modern
| medicine opens the door for friendly alternative medicine
| scams.
|
| It's depressing.
| spondylosaurus wrote:
| IME one reason (out of many) why chronic illness forums
| tend to be terrible is that people who are managing their
| conditions reasonably well don't participate much. Which
| makes sense--the better you're doing, the less time you
| spend thinking about it and the less time you're inclined
| to spend discussing it--but that creates an environment
| where the most miserable voices become the loudest.
|
| And so (1) there's often a disproportionate focus on doom
| and gloom rather than success stories, which paints a
| pessimistic picture for anyone joining after a recent
| diagnosis, and (2) the most prominent voices have a
| wounded-cornered-animal mentality that makes them defensive
| and/or prone to lashing out. And I can't totally blame
| them, given how hard it is to live with a treatment-
| resistant chronic condition, but it's not the most
| constructive environment for everyone else.
| krooj wrote:
| I'll echo this - I have had two left leg DVTs, spaced about
| 7 years apart, and after the second event, really started
| diving into medical publications - surgical journals,
| medical textbooks, clinical trials - as a means to better
| understand the condition, it's pathology, etc. I ultimately
| submitted to testing and discovered a congenital stenosis
| of the left iliac vein with heavy retroperitoneal
| collateralization that necessitated a stent to keep that
| iliac vein open.
|
| I also had a quick look into the social media (primarily
| reddit) aspect of these vascular conditions, and it's a
| pile of dogshit. Most of these patient communities bill
| themselves as "support groups", but there's never any real
| discussion on meaningful research, drug, or device
| advancements. They places serve primarily as "pity pits"
| for chronic moaners and scammers selling alternative
| medicine.
| gcanyon wrote:
| This is interesting -- I have Factor V Leiden
| (heterozygous) and have had one DVT. It _never_ would
| have occurred to me to seek out a support group.
| krooj wrote:
| I also have the same mutation, as does my wife. From what
| I've been told by various hematologists, vascular
| surgeons, and interventional radiologists, it's a very
| weak clotting disorder, but you do have to keep an eye on
| certain environmental factors: smoking, hydration,
| movement, and trauma/surgery. To put it another way, FVL
| is fairly benign until you're already way into Virchow's
| danger done, and at that point it's gonna work against
| you. When it comes to VTE in the presence of ONLY FVL, I
| would shoot serious side-eye at a doc that chalked it up
| to the mutation - there's usually something else going
| on.
| gcanyon wrote:
| Possibly true, but don't sleep on it -- I happened to be
| transitioning insurance when it happened, so I dragged it
| out for several days before ending up at the ER. They
| sent me home later that day, but with strict warnings
| about calling 911 _immediately_ for any sign of stroke,
| heart attack or pulmonary embolism. Fortunately all I
| have to show for it is weakened vein flow in the affected
| leg.
| bdcravens wrote:
| I also have CF, and my diagnosis was different than most: I
| grew up dirt poor and wasn't diagnosed until I was almost 14.
| Even after diagnosis, it pretty much became incumbent on me
| to manage my care. I feel that not being put in a bubble and
| not being told I was going to die kept CF from shaping my
| perspective (today I'm 47 and have all the boring problems
| people my age have. My health is tolerable, sitting at about
| 50-60% lung capacity)
| bdcravens wrote:
| Many have reported severe anxiety due to Trikafta. As I
| mentioned in another comment, I believe I experienced the same,
| but I also started Lexapro around the same time for other non-
| CF reasons, so independent test variables and all that.
| qgin wrote:
| Imagine if tomorrow, it was announced there had been a
| discovery that doubled average human life expectancy to 150.
| There would be happiness, but there would also be chaos. How
| many people would quit all the things they'd told themselves
| they were too old to change? The job they were grinding out
| until retirement. The marriage they'd resigned themselves to?
| Imagine billions of people getting pulled backwards back across
| the midlife crisis line, realizing that yes, maybe there IS
| more to life than "this". The days and weeks after that
| announcement would be some of the most chaotic the world has
| ever seen.
| bdcravens wrote:
| I have CF, and I take Trikafta. Before Trikafta, I usually had a
| 5+ day stay in the hospital every year, and sometimes I have
| would very stubborn respiratory infections that just wouldn't go
| away. I was mentally preparing myself for inevitable decline and
| eventual death.
|
| Trikafta changed my situation dramatically. I've had no
| hospitalizations, and most the classic CF symptoms are either
| gone or extremely diminished. It can't undo a life of damage to
| things like my pancreas, vas deferens, etc, and I still take
| medicine to digest my food, but overall, it's as close to
| "normal" as I could hope for at this point.
|
| The only real downside: weight gain. With CF the pancreas is
| blocked, so you lack in digestive enzymes, and it's a struggle to
| maintain a healthy enough weight to battle respiratory
| infections. After Trikafta, I gained some 30 pounds, and have a
| big belly on my small frame, and went up some 6 inches in the
| waist. To add insult to injury, it happened during the spring and
| summer of 2020, when buying clothes was a challenge due to the
| pandemic.
|
| Speaking of the pandemic, the timing of Trikafta was amazing: it
| kept the normally full "CF floors" of hospitals empty, opening up
| those beds for those with COVID and keeping CF patients less
| exposed.
|
| One side effect I should mention: many report extreme anxiety.
| However, I was starting an anxiety medication for the first time
| (something I should have done 20 years ago, but alas ...) and so
| those effects were muted or hidden to me.
|
| (copied from the last time Trikafta was mentioned here:
| https://news.ycombinator.com/item?id=37540731)
| COGlory wrote:
| Sorry for the potentially insensitive question, but I really am
| wondering about this:
|
| >One side effect I should mention: many report extreme anxiety.
| However, I was starting an anxiety medication for the first
| time (something I should have done 20 years ago, but alas ...)
| and so those effects were muted or hidden to me.
|
| I would have imagined that most people with CF already _had_
| extreme anxiety - wondering when the infection that is going to
| end one 's life will arrive. Is it really possible that
| Trikafta is causing noticeably worse anxiety?
| therein wrote:
| Just an anecdotal experience so doesn't necessarily mean
| anything but the only person I knew that had CF had
| absolutely no anxiety from his condition.
|
| If anything he was a very mature guy for his age, having
| realized he has limited time but of course I wouldn't know
| the internal struggles he might have kept from us.
| mason55 wrote:
| > _I would have imagined that most people with CF already had
| extreme anxiety - wondering when the infection that is going
| to end one 's life will arrive. Is it really possible that
| Trikafta is causing noticeably worse anxiety?_
|
| There's a discussion of this in the article. Essentially, a
| bunch of people have said that they started experiencing
| extreme anxiety when they started Trikafta, and that stopping
| or lowering the dose helped immensely. However, clinicians
| have said that there's no actual evidence that the Trikafta
| is causal.
|
| So it seems to be a bit of an open question and I'm sure an
| emotional one on both sides.
| ipaddr wrote:
| Clinicians are always a day late and a dollar short. The
| evidence comes from these people reporting. These
| clinicians need a 50 million dollar grant to get that
| proof.
| TechnicalVault wrote:
| If you've ever had to organise a scientific study you'll
| understand why. Privacy and ethics are important but they
| make recruitment of a large and representative sample for
| any medical study a nightmare. First you'll need to run
| your protocol past an ethics board and do back and forth
| until it's agree. Once you have that done you'll send out
| an invite (often blind) in hopes of getting people who
| fit your study aims and you will get who you get. There
| are often costs associated with this.
|
| So now you have some willing participants you have to
| screen your initial group to filter it down to people who
| actually meet your recruiting criteria and consent them
| for your study. Finally you actually get to gather your
| data, if you need people to come in for sampling and have
| to cover their expenses.
|
| Next you'll look at your data and realise there's some
| confounding effect which reduces your powers to infer
| anything (e.g. somehow you overrecruited a particular
| group and they turn out to do something which correlates
| with the thing you're studying). You'll cry a little and
| realise you need to recruit more people to have any
| statistical power to draw a conclusion.
|
| tldr; medical and scientific studies are hard if you want
| them to actually have any validity.
| vkou wrote:
| People generally get acclimated to the situation they are in.
|
| If you have anxiety over money, for instance, you'd probably
| still have it, regardless of whether you had $15,000 in your
| bank account, or $15,000,000.
| pfannkuchen wrote:
| You might even have more with 15M! It's much harder to
| replace if you lose it.
| fnordpiglet wrote:
| I grew up with a lot of money insecurity, was homeless for
| a while and started my career with nothing - one change of
| clothes and a floor to sleep on. I've since done very well
| for myself and have a considerable amount of net worth at
| this point and a lucrative forward for as long as I want to
| keep working at it.
|
| I've lost most of my money anxiety, but it took a lot of
| purposeful work inside myself to achieve that including
| years of daily meditation and intentional study of
| Buddhism. Before that my money anxiety was unbearable. It
| didn't matter how little or how much I had, because it
| wasn't about money in truth. It was a fear of losing
| control and other things like self worth and identity
| issues as a result of my earlier life. As I learned to let
| go of the self and my identity and live life as it is
| rather than what I'm afraid it might be I've lost my fears,
| not just about money but all of them. In my experience lack
| of money instigated my anxieties but once they started it
| didn't matter how little or much I had.
|
| That said it drove me to get more and more, and I enjoy
| having more than when I had none. But even if I lost it all
| I would be ok now.
| TotalCrackpot wrote:
| That's interesting - does your career require any formal
| education? Or were you able to develop some crucial skill
| on your own? Can you share what is your career about and
| where you started and where are you now? For example - do
| you hire employees or are you a landlord now, or are you
| an employee?
| fnordpiglet wrote:
| No, I'm a software engineer. I barely graduated high
| school because I was too busy smoking pot and programming
| at a time when you needed a degree to get a good job so
| didn't have much opportunities despite being pretty
| skilled at programming. I got a job at Netscape tho as
| one of the first tech companies that didn't look at
| credentials before skill. I did well there and did my own
| companies. But before I had nothing and move to
| California with $5 and a change of clothes, slept on the
| floor of someone I randomly met on irc (I was lucky it
| didn't turn out worse than it did don't try this at
| home!) until I found a job. Anyway, after Netscape and my
| startups I became a quant on Wall Street, finished my cs
| degree, and have had a successful career since. Now I'm
| the top IC at a late stage startup.
| TotalCrackpot wrote:
| I don't really see how you become a quant on Wall Street
| before you finish the CS degree, they I think look at
| credentials a lot, can you at least give the name of the
| prop shop that hired you without a formal education? Did
| you have any good results in algorithmic competitions or
| math competitions in high school? And how did you learn
| programming without an actual computer? Did your parents
| buy you a computer when you were young?
| dan-robertson wrote:
| Some shops care more than others. Going to a target
| school also matters a lot more for interns/new grads than
| for more experienced hires.
| TotalCrackpot wrote:
| How do you practice for becoming a quant outside of the
| academic system?
| fnordpiglet wrote:
| You do things because you love it and couldn't do
| anything other than that. You build and study not because
| you want a job but because when you wake up in the
| morning everything else you have to do is a chore and the
| reason you live is to learn and see things work. If
| that's who you are, you will struggle with the chores of
| life like shelter and food for a while but you'll learn
| and do so much of value people can't ignore it.
| currymj wrote:
| early 2000s was a different time also. nerd career paths
| hadn't yet become prestigious and formalized.
|
| there were no middle schoolers optimizing their resumes
| for how to get a Jane Street internship in 8 years bc
| Jane Street was only a few years old. same for a lot of
| other firms.
| fnordpiglet wrote:
| It really started around 1994 with Netscape and then the
| dotcom cultural mindset that valued ability over
| credentials.
|
| Also at that time, as you say, there wasn't a broad
| cultural awareness of the money to be made in
| quantitative fields. In fact this was the era of Revenge
| Of the Nerds movies and glorification of the idiot jock
| getting a business degree and the passionate nerd being
| the butt of the joke. You really only went my route if
| you were a total fuck up loser. Now the social view of
| things has completely pivoted.
|
| I would say interestingly the middle school kids
| optimizing their resume only make it so far in industry.
| They're never really passionate about what they're doing
| they're just laddering. At some point they shift to
| management or product or something. At the top firms
| though the people who really make the money and whose
| opinion has ultimate power are the fuck up losers who
| live and breathe their passion and would do it for free
| if that's all there was.
| fnordpiglet wrote:
| A lot of quants didn't go to college. On my team at a top
| trading desk at a top bank we had about 15 people, 4 of
| which never went to college. I actually got an internship
| due to a person on the desk having worked for me prior
| and went full time then finished my degree, so was
| already in school. But many folks took an alternate
| route. They were usually well experienced when they were
| hired. But in an arms race where what you can do is more
| important than nominal credentials a degree simply makes
| it easier.
|
| No, I was a total loser in high school. I barely
| graduated and had awful test scores and did no
| extracurricular activities other than smoke pot.
|
| My grandparents bought me a computer when I was young, I
| think because my mom saw how much I was interested in
| them. It was a c64, but had no storage devices so I had
| to type in programs from scratch each time which was a
| tall order for a 6yo, but I did it anyway. At some point
| someone gave me a 486dx2 board that was an extra and I
| built my first Linux box running 0.96. My schools also
| had an internet connection and I could get dialup access
| to some sunos boxes and some NeXT boxes in the library
| when I was in high school. One of my greatest wishes
| growing up was to have enough money to have the best
| monitor since my monitors were always garbage. My house
| now has nice TVs and monitors everywhere LOL, but they'll
| never hold a candle to my first VGA monochrome monitor I
| delivered papers for a year to buy.
| cbeach wrote:
| On the subject of correlation/causation, I once took a drug
| called Accutane to cure my teenage acne. Listed side effects
| included: "Mental health issues depression, psychosis,
| aggressive behaviour and suicide ideation and attempts"
|
| Accutane was the best medicine I ever took. It resolved my
| acne (permanently) in a matter of weeks. I felt elated
| afterwards and never experienced mental side effects.
|
| However, prior to the drug, I'd experienced several of the
| listed side effects, due to the acne itself and its devasting
| effect on my self-esteem.
|
| For many teenagers suffering from serious acne, they'd also
| have mental side effects due to the skin disorder, meaning
| there would be a strong correlation between Accutane use and
| people suffering mental episodes. And if the wonder drug
| didn't cure the acne, as promised, I can imagine that failure
| might push some acne sufferers over the edge.
|
| So, Accutane itself could be harmless, but the circumstances
| of its use might suggest causal link to mental side effects
| which are not causal at all.
| ipaddr wrote:
| It takes a lot including many suicides to get that side
| effect listed. You are lucky it didn't reach that point for
| you. With a little more time or repeated usage it probably
| would have got you as well.
| dan-robertson wrote:
| Yeah a lot of the side effects you listed sound a bit like
| they could be within normal expectations for teenagers, or
| just slightly heightened. Reminds me of an SSRI that
| happened to also massively reduce caffeine metabolisation
| without anyone noticing, and loads of the known side
| effects were really just effects of caffeine overdose -
| insomnia, jitters, headaches, etc.
| bdcravens wrote:
| Most of us, especially adults, are pretty much settled in
| with the state of our condition - we've had it our entire
| lives. Anecdotal, but many CF patients (including in online
| communities I'm a part of) have reported a lot of increased
| anxiety.
| junon wrote:
| Just an anecdote.
|
| My best friend died of CF just a few years ago. He talked
| candidly about his eventual death, to the extent it was
| uncomfortable at first (but we ended up being to the level of
| making jokes about it, which I think was a positive thing for
| both of us).
|
| He changed his WhatsApp status to a coffin and skull-and-
| bones emoji right before he went, just as a joke.
|
| He didn't live with a shred of anxiety - least anxious person
| I've ever met. Dude was down for anything and everything, and
| could have probably fought off a bear despite being comically
| short and concerningly skinny. Easily one of the most kind
| and relaxed souls I've ever met.
| matthewtse wrote:
| (I left a previous comment as a similar sufferer of a
| lifelong genetic disease that was cured by a breakthrough
| medicine: https://news.ycombinator.com/item?id=37541222)
|
| Funnily enough, although in practical terms my life is
| infinitely better than it was before the drug in, I would
| rate my anxiety as higher than it was before.
|
| A lot more options open in the world, a lot more to hope/pine
| for, a lot more to lose. Back in the days when my expected
| future was to just hang out in bed, there wasn't much else to
| do than to just chill and read a book.
| therein wrote:
| One of the first friends I made in college was a friend with
| CF. I didn't know what CF was. He was very mature for our age
| and generally a very nice, happy, caring person. Got
| internships, studied with us. Went to bars with us but never
| drank because he couldn't. He had stories about how Make-a-Wish
| foundation has been dragging their feet not to give him his
| wish since his childhood.
|
| He would take his enzymes, do the vibrating jacket treatment.
| He graduated and got a full time offer from a nice company. As
| he was relocating, he picked up some infection and passed away
| in a few weeks. None of us expected it. This was months before
| I heard of the approval of Trikafta.
| bdcravens wrote:
| Never had a problem drinking. (So much so that I had to quit
| a few years ago)
| therein wrote:
| It was more of an I don't want to risk it kind of thing. He
| did taste it a few times towards the last few years of
| college.
| paulpauper wrote:
| _weight gain. With CF the pancreas is blocked, so you lack in
| digestive enzymes, and it 's a struggle to maintain a healthy
| enough weight to battle respiratory infections. After Trikafta,
| I gained some 30 pounds, and have a big belly on my small
| frame_
|
| This seems like a no-brainer way to treat obesity, by
| restricting or blocking such enzymes. Obviously the downside is
| diarrhea and other malabsorption symptoms, but obese people
| have too much nutrition. Blocking absorption seems easier than
| dieting, as no willpower required. You shit out the undigested
| food.
| derefr wrote:
| They sort of tried this in the '90s -- not in the form of
| suppressing the required enzymes for nutrient absorption, but
| rather in the form of diet foods that contained inherently
| non-absorbable nutrients. The downsides were basically the
| same -- the non-absorbed nutrients had to come out. People
| didn't generally respond well to these products. See e.g. htt
| ps://web.archive.org/web/20060113084223/http://www.zug.co...
| vrc wrote:
| Olestra! I ate a whole bag of the Lay's with Olean as a
| kid. They had the audacity to say that they assumed that
| people would only eat a handful at a time. Of near zero
| calorie potato chips that taste like potato chips...
| bdcravens wrote:
| I've played with my enzyme dosage, and there are a lot of
| unpleasant side effects as you've mentioned. Overall, the
| best approach has been what everyone else has to do: watch
| carbs and sugar, reasonable exercise, etc.
| patmorgan23 wrote:
| Appetite suppression/regulation seems like a much better
| route to pursue than intentionally inducing malabsorption.
| vrc wrote:
| Orlistat. Look at Alli -- very available to buy. A very
| common side effect is steatorrhea. Oily leakage/poops. But
| not like, "oops I gotta run to the bathroom" but like, a tiny
| bear down and oil shoots out your bum. There is a clear
| warning on it about malabsorption as well of fat soluble
| vitamins.
| Scoundreller wrote:
| Having taken orlistat in low/intermittent doses, I can say
| it really matters what you eat fatty stuff _with_ , on top
| of quantity. A regular "balanced" low-mid fat diet, and
| you're (well, I've been) okay.
|
| If you eat a tub of ice cream as dinner, you're going to
| have a bad time.
| pedalpete wrote:
| Can you elaborate on the weight gain? I'm curious why that is a
| downside of the Trikafta? You say with CF the pancreas is
| blocked, so why did the weight come as a side-effect of the
| drug, and not with the disease initially?
| bdcravens wrote:
| Some of the blockage of the pancreas is due to scarring, some
| of it to thick mucus. The scarring can't be undone, but with
| a reduction of mucus blockage, food may be digested better.
| That said, I think that there's other causes, given how fast
| most who start Trikafta gain weight.
| abhisuri97 wrote:
| Med student here. My guess is the following: So with CF your
| pancreas can't secrete many of the enzymes that are necessary
| to actually digest food. You can take medications to help
| with that digestion, but regardless, you aren't actually
| getting all the calories in your food with CF because it
| isn't making its way into your body (notably patients with CF
| have steatorrhea which is fat in their stool because they
| can't absorb a lot of fat from their foods like a non-CF
| patient). The med helps the pancreas recover some of its
| ability to secrete digestive enzymes and so patients can now
| eat and get more from their food. The issue is that there
| needs to be a recalibration in terms of how much patients are
| eating. Previously a 2000 calorie diet may not have gotten
| them so far because they didn't absorb much of it, but now
| they're absorbing a lot more of it. Plus increased work of
| breathing with CF expends more calories compared to a non-CF
| patient (and patients on this drug).
| joney_baloney wrote:
| This is exactly right.
|
| Source: have CF.
| jMyles wrote:
| Reading your comment, I was certain I remembered it - and I see
| that you've now added a link to its previous home.
|
| So I just wanted to say: it was an impactful piece of writing,
| enough so that I remembered it quite clearly after a single
| read these few months ago.
| bdcravens wrote:
| Thank you. My aim isn't to wax poetic or elicit sympathy, but
| to provide insight for others.
| cogman10 wrote:
| > The only real downside: weight gain.
|
| Interesting. I'm an uncle to a family member with CF (and I'm a
| carrier) and one of their long battles has actually been
| weight. To the point of doing things like downing olive oil to
| try and keep up the weight. They've eventually had to take the
| fairly drastic measure of getting a feeding tube installed.
| Getting enough calories in just hasn't been possible until the
| feeding tube.
| bdcravens wrote:
| Yeah, it's been quite a shock trying to reverse the first 40+
| years of my life where I was told to eat eat eat. Not just
| for the weight, which is really a vanity thing, but also to
| counteract the diabetes that most with CF develop, since that
| can directly impact overall health and the ability to fight
| off infection.
| joney_baloney wrote:
| My younger brother has CF and takes Trikafta and it's
| absolutely made all the difference in the world, it's wonderful
| to see. Watching all the years of research and CFF funding
| finally pay off is really something.
|
| My personal situation is probably pretty unique, in that I have
| CF as well, but had a double lung tx many years ago. A couple
| years ago my transplant team (actually it may have been the CF
| people.. fuzzy memory) asked me if I was interested in getting
| on Trikafta and after thinking it over for about 30 seconds I
| told them I'd probably pass. It seemed like it wouldn't have
| any beneficial effect on my lungs, as they no longer "have CF",
| and that I assumed it would just make extra weight for my
| decently healthy but still under par lungs to have to drag
| around. They didn't disagree.
| Sammi wrote:
| Yes but CF affects all liquids in your whole body. You can
| get diffuse long term damage anywhere and everywhere in your
| body. Having to eat calorie amounts like someone without CF
| sounds like a good tradeoff in order to not risk this damage.
| joney_baloney wrote:
| Yeah and it'd help my sinuses too but at my age I'm used to
| taking the enzymes when I eat and they work well enough.
| Long term damage is basically my personality at this point,
| lol.
| abdulhaq wrote:
| I'm in a similar situation so it's funny to see someone else
| here with the same. I had my transplant in 1988. There's also
| Steve Rasmussen (you can google him) who AFAIK also does not
| take Trikafta.
| bdcravens wrote:
| Interesting note about Trikafta and other advancements in cystic
| fibrosis: the Make a Wish Foundation announced that children with
| CF now no longer automatically qualify for their program due to
| the advancements in care.
|
| https://wish.org/cf-update
| therein wrote:
| My friend that had CF was eligible. He was asked by the
| foundation what he wanted when he was 5-6 years old. He said he
| wanted to go Zorbing in Australia.
|
| They dragged it until he was 18. He always jokingly said "make
| a wish foundation is waiting, hoping I'll die".
|
| He finally got to go Zorbing when he was 19. Passed away a few
| years later.
|
| Not surprised the foundation jumped on Trikafta to remove
| eligibility.
| ForHackernews wrote:
| This is also mentioned in the article:
|
| > Recently, Make-A-Wish announced that children with CF would
| no longer automatically be eligible for the program, because
| "life-changing advances" had radically improved the outlook for
| them.
|
| I know this is a long piece, but half the comments in this
| thread seem like people didn't even bother to read it before
| commenting...
| tnias23 wrote:
| There's a sign-up process required.
| ForHackernews wrote:
| Ah! Fair enough. I assumed HN links bypassed the paywall.
| bdcravens wrote:
| Fair enough. As someone who takes Trikafta, I skimmed the
| article since it wasn't news to me :-)
| bane wrote:
| Oh wow. I remember a kid in elementary school with CF. I didn't
| understand at the time what he and his family was going through.
| I remember his personality and intelligence, his skill on the
| soccer team. He was unusually driven for an 8-9 year old.
|
| As I got older and into my 20s, I thought about him a lot -- it
| was understood that most CF patients don't make it out of their
| early 20s and I knew even if he were particularly lucky, as time
| went on and I aged, he was probably gone.
|
| My father also recently died from lung cancer, and had a few
| months where he was effectively drowning in his own lung fluids,
| requiring doctors to drain his lungs with long needles through
| his back. That experience also brought me back to that
| schoolmate, considering what he had had to endure.
|
| Recently, I was reorganizing my personal library and came across
| my elementary school yearbook and flipping through, saw his
| picture. It's been decades since he's likely passed on. It gave
| me pause to contemplate certain priorities in my life and try to
| cultivate greater compassion.
|
| It's a particularly cruel disease, and this news is wonderful.
| jhoechtl wrote:
| Those were wonderful words and moved me a lot.
| dclowd9901 wrote:
| My brother passed about a decade ago from complications from a
| double lung transplant, which he needed because of CF.
|
| It seems like something every day reminds me of him. I'm really
| glad there's hope for people with it. It's a particularly
| shitty disease and he was the nicest most thoughtful person
| I've ever known. I miss him dearly.
|
| Bittersweet. Glad there's progress, wish it were earlier.
| speedylight wrote:
| Have you tried looking him up? He could still be alive.
| dotnet00 wrote:
| I remember studying about how CF was an agonizing death sentence
| just 10 years ago in highschool. It's both interesting to learn
| that even at that time the life expectancy info was outdated, and
| even cooler to hear this news.
| varjag wrote:
| It appeared too late to make a difference for my dear friend and
| the kindest human being I knew. The manifestation of life's
| injustice drives me mad ngl.
| alleycat5000 wrote:
| Breath From Salt is a great book on CF and it's history in
| medicine.
|
| https://benbellabooks.com/shop/breath-from-salt/
| yalok wrote:
| I wonder if this applies to kidneys cystic fibrosis?
|
| I friend of mine passed away a few years ago from it, and it was
| painful to watch slow degradation in his health over the years.
| josefrichter wrote:
| Around the time Trikafta became widely available I used to work
| for a clinical trials company. I remember one guy with CF telling
| us the full story of his life, how plenty of his friends with CF
| died in their 20s, and how, after taking the new meds, he felt
| effects within the first hour. It was like a miracle. If I
| remember correctly, there's still some 10% of CF patients for
| whom it doesn't work but I hope we will soon eradicate this
| horrendous disease altogether.
| bruce511 wrote:
| Trikafta is a real breakthrough for CF patients. What's not
| mentioned is the cost - about $300 000 per person per year. [1]
|
| In 2037 the patent will run out, and the generic price will
| likely be 90% less.
|
| Fortunately, for Americans with good-enough health insurance,
| it's covered, so ... yay? For those without insurance, or in
| other countries where $300k is basically unaffordable, well
| bummer for you, you'll be the last generation to die of it.
|
| I get the insane costs, and risks, of developing these things. I
| get that the profit motive is what drives there to be any
| research at all in pharma. I get that the price has to be high
| for everyone, or insurance companies will balk.
|
| And yet, even knowing all that, there's a sour taste when we
| -could- (literally) save lives, but, well, money first ya-know...
|
| I don't have an answer to this issue- there are downsides to all
| proposals I've heard. But this approach seems, well, pretty
| harsh.
|
| [1] https://www.statnews.com/2023/11/03/trikafta-cystic-
| fibrosis....
| elektor wrote:
| "In 2037 the patent will run out, and the generic price will
| likely be 90% less."
|
| Unfortunately, that's not guaranteed to bring a price drop.
| Humira is a good example of that; it recently went generic but
| much of the savings went to higher rebates to pharmacy benefits
| managers.
|
| Some reading for anyone curious:
|
| https://www.reuters.com/business/healthcare-pharmaceuticals/...
| amplicons4ever wrote:
| You're talking apples and oranges...
|
| Humira is a monoclonal antibody (a biologic drug), not a
| small molecule. Biologics require cell culture systems and a
| completely different manufacturing process than small
| molecules, and are very complex drugs. The "generics" (called
| biosimilars) aren't significantly cheaper because they're
| simply very expensive to manufacture at scale. Humira or its
| "generics/biosimilars" will never be cheap. It's physically
| impossible with today's bio processing technology.
|
| Trikafta is a mix of three small molecules, which are
| manufactured in large chemical batches and are the more
| traditional class of drugs. Many even have total synthesis
| pathways known which means you can basically make them by the
| train car scale for cheap.
|
| When the patent on Trikafta runs out, it'll be very cheap.
|
| I'll note that vanishingly few patients ever pay the full
| list price in the US--if you have insurance, the copay is
| small.
|
| Your insurance pays (as they should, that's why you pay them
| premiums!). The company even pays the co-pay in most cases so
| the actual cost to patients in many cases is $0.
|
| If you truly need it and don't have insurance, the company
| provides it for basically free with a patient assistance
| program, it's there on their website.
|
| Kudos to the scientists who invented this, I don't feel bad
| for the insurance companies really, they charge their
| premiums and it's their responsibility to the policyholders
| to pay the applicable fees for care.
|
| *edit: typo
| Scoundreller wrote:
| What I like to say about pharma, especially small-molecule,
| is that the first dose costs $billions, and the rest a few
| cents.
| maxerickson wrote:
| I don't feel bad for the insurance companies either, but it
| is the case that they get their money from the people they
| cover, expensive treatments will drive up overall premiums.
| xenospn wrote:
| In other countries this will be covered by the social safety
| net (that doesn't exist in the US, hence the need for "good-
| enough health insurance").
| ploika wrote:
| Not necessarily. I don't know about other countries, but I
| remember there being a campaign here in Ireland (with one of
| the highest rates of cystic fibrosis in the world) to get
| Orkambi covered under the Drug Payment Scheme when it was
| new.
| BurningFrog wrote:
| Or the country decides to not import the medicine due to the
| cost.
| paulpauper wrote:
| 'other countries' would not even developed the drug...Vertex,
| a US pharma company, developed Trikafta. No one is paying the
| 300k out of pocket. The high price incentivizes research.
| Expensive drugs seems like a tradeoff for more innovation.
| bdcravens wrote:
| I literally just received a box of Trikafta on Wednesday.
| My copay was $150 on a $31,855 retail price. (I actually
| don't pay the $150, due to Vertex's copay assistance)
| astrange wrote:
| The socialized medicine systems don't have infinite money
| just like private health systems don't; if they can't
| negotiate a cheaper price for the medicine they won't
| purchase it.
|
| (It's not "health insurance". Insurance covers unpredictable
| outcomes; needing a medicine every month for the rest of your
| life is not unpredictable.)
| refurb wrote:
| It's not. That's what a lot of people don't understand.
|
| These drugs from Vertex started being approved in 2014. US
| insurers pretty much covered them from approval. Even
| Medicaid (health insurance for low income) started paying for
| it.
|
| Other countries? The UK just started in 2020.
|
| In Canada? Last I checked only 5 of the 10 provinces paid for
| it and only if you're under 18.
|
| The US healthcare is expensive for a lot of reasons, and one
| of them is new technology gets paid for really quickly.
| Scoundreller wrote:
| Looks like every province pays for Trikafta now:
| https://www.cysticfibrosis.ca/our-
| programs/advocacy/access-t...
|
| Of course, it's Canada, so you may have private drug
| coverage and then it depends on province whether you fall
| back to the public coverage if the private payor doesn't
| cover it.
|
| > The third-generation of modulators, Trikafta, is a new
| transformational drug that can treat up to 90% of Canadians
| with cystic fibrosis. _Trikafta was approved for sale in
| Canada on Friday, June 18th, 2021_ , by Health Canada for
| people aged 12 and up with cystic fibrosis and at least one
| F508del mutation and on April 20, 2022 for those aged six
| and up. _As of September 13, 2022, every province,
| territory and federal drug program is funding this drug for
| those six and up_. Unfortunately, it is not accessible to
| all who can benefit from it, and therefore our advocacy
| work continues
|
| https://www.cysticfibrosis.ca/our-
| programs/advocacy/access-t...
| umanwizard wrote:
| No country pays unlimited amounts of public money for brand
| new drugs.
| ForHackernews wrote:
| It is mentioned. Quoting directly from this piece...
|
| > Or stopped being covered by insurance? Trikafta's sticker
| price is more than $300,000 a year. Insurance typically covers
| most of that cost--minus what can be significant co-pays and
| deductibles--and Vertex offers co-pay assistance. But patients'
| lives ultimately depend on decisions made by nameless
| bureaucrats in rooms far away: Insurance plans can suddenly
| change what they cover, and in 2022, Vertex announced that it
| would substantially reduce its financial assistance.
| Aloha wrote:
| I suspect very strongly at 300k a year, its still cheaper
| than treating CF via existing means.
| bdcravens wrote:
| Yes, I (CF patient) just had a one-week hospital stay, and
| right now the (retail) price of that vacation is around
| $100k the last time I looked at all of the bills.
| (fortunately I have amazing insurance)
| Aloha wrote:
| When I saw you mention multiple hospital stays a year, I
| went "well a single admission runs about 20k" and
| extrapolated from there.
| Sammi wrote:
| Of course. All medicine producers know to price their
| product just below the alternative.
| nwiswell wrote:
| In many other countries, patents do not apply to personal use,
| where there is no sale.
|
| Since Trikafta is a blend of 3 small-molecule drugs, is it
| possibly feasible to publish a do-it-yourself synthesis
| process?
|
| Or perhaps the community could even come together to set up a
| lab, where individuals could travel and go through the motions
| to produce their own?
|
| I recognize this isn't ideal, but it might be legal...
| deadbabe wrote:
| If you're going to do all that why bother with legality, just
| push pills on a black market.
| A_D_E_P_T wrote:
| Yeah.
|
| In all seriousness, you can buy the APIs directly from
| China/India and compound them yourself. It's easy and dirt
| cheap, in most cases. This is typically how underground
| steroid labs and other illicit pharmacies work. It's in
| some cases how legitimate compounding pharmacies work.
|
| So how do you know what you're getting is pure, or even
| real? Simple, before shipping it to the US, you send it
| over to an analytical lab in China and have them run GC/MS
| or LC/MS on the chemical raw material. Since it's
| supposedly a pure compound, that should be easy, and
| there's very rarely any ambiguity as to the results. This
| also ensures that you're not inadvertently importing
| anything on the DEA's scheduled list.
| nwiswell wrote:
| This feels very Dallas Buyer's Club.
|
| I assume communities exist on the Internet for this kind
| of "drug piracy"?
| A_D_E_P_T wrote:
| Yeah, IRL too. 5-10 years ago there were some biohacking
| collectives around the Bay Area that did everything from
| pharmaceuticals to experiments with CRISPR. I don't know
| if they're still around -- I left that scene when I left
| the USA a few years ago -- but if you're in the area you
| might want to give it a look. (As an aside, I heard that
| a few scene-adjacent people have recently gotten gene-mod
| therapy; Patri Friedman, for instance, received
| follistatin therapy.)
|
| Nootropics were a pretty popular trend around the same
| time, and I knew a lot of guys who would import weird
| drugs and peptides from Russia and China. It's the same
| sort of procedure I outlined in my last post, in that
| you're ordering drugs or drug-active-ingredient-powder
| from abroad... And then hopefully testing it.
|
| Roughly 10 years ago, when [redacted breakthrough drug]
| was released, I helped some friends set up a pirate
| pharmacy. Those were good times.
| nwiswell wrote:
| That's really cool. I don't have a bio/pharma technical
| background but I'm very sympathetic to the scene and the
| ethos so I'll have to check it out.
| 0xB31B1B wrote:
| drugs are priced differently country to country and the price
| has nothing to do with the unit cost to manufacture. The US is
| the least regulated pharmaceuticals market in the world and
| drugs here usually cost significantly more than drugs in other
| locals. For example semaglutide/ozempic costs like 1300/month
| in the US, but only 100-200/month in European countries. Also,
| the "1300/month" cost in the US is only paid by people who are
| paying cash and not covered by insurance, if the drug is
| covered by the patients insurance than the Pharmacy benefits
| manager usually pays a fraction of the 1300/month price as it
| is a "bulk negotiated discount, so they often pay 200-300 USD,
| the actuall price in these deals is a closely guarded trade
| secret.
| glp1guide wrote:
| So note that although Semaglutide/Ozempic cost that amount
| retail, most are absolutely not paying that price.
|
| https://glp1.guide/content/glp1-pricing-2024-02
|
| Of course, insurers are struggling to not cover the bill, and
| although it's in the medicaid list it's up to states to
| choose whether to cover it or not
| bdcravens wrote:
| Vertex is very good about providing programs to put it in the
| hands of those who need it. I have great insurance and a great
| income, and they even apply deductible assistance to me.
|
| In the online CF communities I'm a part of, I've never heard of
| anyone who couldn't get access to the medication (aside from
| the country they're in not approving it) (I'm in the US so my
| perspective is probably skewed)
| cbeach wrote:
| I've seen conversations like this before, regarding the heavy
| cost that Big Pharma levies on treatments for major diseases.
| And US companies frequently come up in these discussions.
|
| But the alternative, without the massive cashflows, is a world
| where the research never happens, and the diseases haunt us
| forever.
|
| The Big Pharma treatments will eventually become public domain,
| and may inspire other cheaper treatments prior to that.
|
| The fact that these conversations come up frequently is a
| symptom of the fact that Big Pharma is frequently doing
| fantastic things. Curing diseases that have plagued humanity
| for millenia and killed millions.
|
| We have a very bright future. But the future is not free of
| charge, as we'll continue to require a lot of medical research,
| and medical researchers have families to feed, like the rest of
| us. Medicine costs money - there's no escaping it.
|
| In the UK, we sometimes mistakenly imagine that our socialised
| healthcare system is "free." It's not. It's one of the most
| expensive in the world, and employs over 2 million people. The
| component of tax that I paid to fund the National Health
| Service was PS8919 last year - the largest single expenditure
| of my taxes, and vastly more than I'd need to spend to get
| private healthcare.
|
| So while American medical pricing is scary and sometimes
| ruthless, I think we need to put things in perspective and
| recognise their leadership in medical research - without which,
| we'd all be in a worse situation.
| kelnos wrote:
| What about direct government funding? Isn't that a reasonable
| alternative? Maybe not a politically-popular one, but I
| wouldn't be surprised if health care overall would be cheaper
| under a system where pharma research is done with public
| money, and then isn't allowed to be patented. Might even in
| save enough money to avoid much in the way of extra taxes to
| fund it.
|
| Hell, a lot of medical research is funded (in part) by public
| dollars, and then the results get locked up behind patents
| for years, which is gross.
| derivative7 wrote:
| Most taxpayers don't have cystic fibrosis and hence don't
| want to pay to have it cured. Not feasible. This
| hypothetical is kind of lame.
| matthewtse wrote:
| I love this reply.
|
| It's a particularly touchy subject because it involves
| people's health and the ability/inability to pay for it.
|
| But as a sufferer of a debilitating disease with a miracle
| drug that costs an arm and a leg, I've become a convert to
| the US pharma-industrial complex. These drugs take billions
| of dollars and decades to research--that funding/development
| isn't going to happen without venture capitalists who
| shoulder that risk for the profit reward. An equal number of
| pharma venture capitalists lose all their money, researching
| dead-end drugs.
|
| I'm incredibly blessed to have both a cure invented during my
| lifetime and the means to pay for it. But even if I lacked
| the means, I would still infinitely prefer a world where a
| cure exists that I need to somehow access, as opposed to a
| hopeless world with no cure.
| elliotto wrote:
| It feels like there's a lack of imagination here. Could you
| conceive of a world that was successful in its research of
| drugs, but was propped up by an economic model other than
| pharma venture capitalism?
| google234123 wrote:
| Take away the money and watch the development go away ;)
| orzig wrote:
| I loved the book The Billion Dollar Molecule (Reviewed by Nature
| here: https://www.nature.com/articles/nbt0594-521.pdf) about the
| founding of Vertex Pharma. Really drives home the amount of
| money, time and luck it takes to make a breakthrough - the author
| needed to write an entire second book to get to the part where
| they started making real revenue. The second book isn't as good,
| but if you like the first enough you might try it anyway.
| BenFranklin100 wrote:
| This article gives short shrift to the role the pharmaceutical
| industry played in making this life-changing treatment a reality.
| It barely mentions Vertex. Vertex is the biotech company that
| made the big bet on cystic fibrosis, a rare disease that most
| companies wouldn't touch because of the small market and unknown
| biology made it too risky. They were the ones that believed in
| the science and developed multiple CF drugs and got them into the
| hands of patients. Here's a 2019 STAT article that gives a fuller
| account of Vertex's role:
|
| https://www.statnews.com/2019/10/23/we-conquered-a-disease-h...
| jeremiahbuckley wrote:
| Thanks for this. Very cool to read these types of stories.
| bdcravens wrote:
| Yes, the CFF has partnered with companies like Vertex to take
| an almost VC-like approach towards developing new drugs
| (Trikafta being one of many similar drugs they've developed
| with Vertex)
| rakejake wrote:
| The book "The Billion Dollar Molecule" is about the founding of
| Vertex Pharma. Worth a read.
| ackbar03 wrote:
| There's a follow up book as well, The Antidote. I read both
| to learn more about the industry
| ForHackernews wrote:
| This is the future I want to live in: one where radical advances
| in gene therapy are curing (or nearly curing) horrible illnesses
| humanity has suffered with for thousands of years.
| Scoundreller wrote:
| already a thing:
| https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9512634/
| kouru225 wrote:
| When I was a kid, I was told my cousins would die before they
| turned 30 because of CF. One of them ended up dying when he was
| 10, but other is now above 30 and seems incredibly healthy.
|
| The amount of development in the treatment of CF over the last 20
| or so years is so incredible it's insane.
| clumsysmurf wrote:
| I wasn't able to read the article (behind paywall) but this was
| also in the news recently, related to CF & Zn.
|
| https://newatlas.com/medical/zinc-lung-macrophages-anti-bact...
| SEJeff wrote:
| The internet archive has your back. Here is TFA:
| https://archive.is/gD49J
| paulpauper wrote:
| If CF like breathing through a coffee straw, as some sources say?
| I tried it myself, and god I hope not. I lasted a few minutes and
| was gasping for air.
| bdcravens wrote:
| I have CF. My lung capacity is around 55% (many have lower, and
| around 20-30% is when they tend to start talking lung
| transplant)
|
| I wouldn't use that analogy. It's more like breathing in a deep
| swimming pool or a very humid sauna. Slight physical exertion
| (like stairs or hills) can be like most people doing strenuous
| exercise. Laziness tends to be a way of life :-)
| joney_baloney wrote:
| Once it gets bad, yeah. I was very end stage before my lung
| transplant and it's an accurate description.
| pedalpete wrote:
| https://archive.is/gD49J
| dm8 wrote:
| This is incredible. I wonder if there will be medicine that cures
| idiopathic pulmonary fibrosis. New class of drugs like Ofev stop
| worsening of the IPF but doesn't cure it.
| optymizer wrote:
| This is great news and hopefully with time there will be a
| definitive cure. I found out about CF when we did genetic testing
| for family planning. It turned out me and my spouse were carriers
| of the gene. They said about 25% chance that the embryo would
| have CF, and since I soon learnt it is a terrible disease I did
| not want to risk bringing a child in this world with CF.
|
| We did IVF instead and to my surprise, 60% of viable embryos had
| CF, which I thought was unusually high compared to what I had
| been told prior to the procedure.
|
| We were very fortunate that we did the testing and had successful
| IVF pregnancies, but so many other families aren't so lucky. I
| hope advancements in CF treatment will make it a non-issue for
| parents in the near future.
| ETH_start wrote:
| If I can be allowed a bit of sophistry:
|
| It's a beautiful thing for treatments to be devised for rare
| conditions, to give people decades more life. It would be more
| wonderful still if we devised treatments for aging, the universal
| condition, to grant everyone decades more life.
|
| Hardly anyone deserves to die. The vast majority of people are
| singularly incredible and worthy of life. They deserve to be
| equally safe from murder, fatal accidents, rare diseases like
| cystic fibrosis and the universal disease of aging.
| mmustapic wrote:
| Many incurable diseases come with an awful quality of life,
| like CF. Even cancer, treated or not, is a terrible experience.
| Just aging, what you call "a disease", is nothing like that.
| warion wrote:
| This sounds bad and can give edge to republicans as generally
| rightist people have more incidence of CF
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