[HN Gopher] Cystic fibrosis breakthrough has given patients a ch...
       ___________________________________________________________________
        
       Cystic fibrosis breakthrough has given patients a chance to live
       longer
        
       Author : cowboysauce
       Score  : 192 points
       Date   : 2024-03-07 13:49 UTC (2 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.
        
       | 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.
        
           | 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.
        
         | 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.
        
         | 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.
        
       | 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.
        
       | 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.
        
       | 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/...
        
         | 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.
        
         | 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.
        
         | 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.
        
         | 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.
        
       | 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.
        
       | 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.
        
       | 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.
        
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