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Cystic fibrosis breakthrough has given patients a chance to live longer

422 点作者 cowboysauce大约 1 年前

22 条评论

bdcravens大约 1 年前
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&#x27;t go away. I was mentally preparing myself for inevitable decline and eventual death.<p>Trikafta changed my situation dramatically. I&#x27;ve had no hospitalizations, and most the classic CF symptoms are either gone or extremely diminished. It can&#x27;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&#x27;s as close to &quot;normal&quot; as I could hope for at this point.<p>The only real downside: weight gain. With CF the pancreas is blocked, so you lack in digestive enzymes, and it&#x27;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.<p>Speaking of the pandemic, the timing of Trikafta was amazing: it kept the normally full &quot;CF floors&quot; of hospitals empty, opening up those beds for those with COVID and keeping CF patients less exposed.<p>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.<p>(copied from the last time Trikafta was mentioned here: <a href="https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=37540731">https:&#x2F;&#x2F;news.ycombinator.com&#x2F;item?id=37540731</a>)
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bane大约 1 年前
Oh wow. I remember a kid in elementary school with CF. I didn&#x27;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.<p>As I got older and into my 20s, I thought about him a lot -- it was understood that most CF patients don&#x27;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.<p>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.<p>Recently, I was reorganizing my personal library and came across my elementary school yearbook and flipping through, saw his picture. It&#x27;s been decades since he&#x27;s likely passed on. It gave me pause to contemplate certain priorities in my life and try to cultivate greater compassion.<p>It&#x27;s a particularly cruel disease, and this news is wonderful.
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BenFranklin100大约 1 年前
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:<p><a href="https:&#x2F;&#x2F;www.statnews.com&#x2F;2019&#x2F;10&#x2F;23&#x2F;we-conquered-a-disease-how-vertex-delivered-a-transformative-medicine-for-cystic-fibrosis&#x2F;" rel="nofollow">https:&#x2F;&#x2F;www.statnews.com&#x2F;2019&#x2F;10&#x2F;23&#x2F;we-conquered-a-disease-h...</a>
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bruce511大约 1 年前
Trikafta is a real breakthrough for CF patients. What&#x27;s not mentioned is the cost - about $300 000 per person per year. [1]<p>In 2037 the patent will run out, and the generic price will likely be 90% less.<p>Fortunately, for Americans with good-enough health insurance, it&#x27;s covered, so ... yay? For those without insurance, or in other countries where $300k is basically unaffordable, well bummer for you, you&#x27;ll be the last generation to die of it.<p>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.<p>And yet, even knowing all that, there&#x27;s a sour taste when we -could- (literally) save lives, but, well, money first ya-know...<p>I don&#x27;t have an answer to this issue- there are downsides to all proposals I&#x27;ve heard. But this approach seems, well, pretty harsh.<p>[1] <a href="https:&#x2F;&#x2F;www.statnews.com&#x2F;2023&#x2F;11&#x2F;03&#x2F;trikafta-cystic-fibrosis-price-colorado-prescription-drug-affordability-board&#x2F;#:~:text=Trikafta%20is%20taken%20by%20only,drugs%20from%20their%20PDAB%20evaluations" rel="nofollow">https:&#x2F;&#x2F;www.statnews.com&#x2F;2023&#x2F;11&#x2F;03&#x2F;trikafta-cystic-fibrosis...</a>.
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bdcravens大约 1 年前
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.<p><a href="https:&#x2F;&#x2F;wish.org&#x2F;cf-update" rel="nofollow">https:&#x2F;&#x2F;wish.org&#x2F;cf-update</a>
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optymizer大约 1 年前
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.<p>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.<p>We were very fortunate that we did the testing and had successful IVF pregnancies, but so many other families aren&#x27;t so lucky. I hope advancements in CF treatment will make it a non-issue for parents in the near future.
orzig大约 1 年前
I loved the book The Billion Dollar Molecule (Reviewed by Nature here: <a href="https:&#x2F;&#x2F;www.nature.com&#x2F;articles&#x2F;nbt0594-521.pdf" rel="nofollow">https:&#x2F;&#x2F;www.nature.com&#x2F;articles&#x2F;nbt0594-521.pdf</a>) 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&#x27;t as good, but if you like the first enough you might try it anyway.
forgetfreeman大约 1 年前
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 &quot;oversteer&quot; into some questionable lifestyle choices.
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leetrout大约 1 年前
I lost a cousin and a family friend to CF. Both in their 20&#x27;s. One after a lung transplant added some time.<p>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!
kouru225大约 1 年前
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.<p>The amount of development in the treatment of CF over the last 20 or so years is so incredible it’s insane.
josefrichter大约 1 年前
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.
pedalpete大约 1 年前
<a href="https:&#x2F;&#x2F;archive.is&#x2F;gD49J" rel="nofollow">https:&#x2F;&#x2F;archive.is&#x2F;gD49J</a>
ETH_start大约 1 年前
If I can be allowed a bit of sophistry:<p>It&#x27;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.<p>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.
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varjag大约 1 年前
It appeared too late to make a difference for my dear friend and the kindest human being I knew. The manifestation of life&#x27;s injustice drives me mad ngl.
ForHackernews大约 1 年前
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.
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dotnet00大约 1 年前
I remember studying about how CF was an agonizing death sentence just 10 years ago in highschool. It&#x27;s both interesting to learn that even at that time the life expectancy info was outdated, and even cooler to hear this news.
paulpauper大约 1 年前
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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alleycat5000大约 1 年前
Breath From Salt is a great book on CF and it&#x27;s history in medicine.<p><a href="https:&#x2F;&#x2F;benbellabooks.com&#x2F;shop&#x2F;breath-from-salt&#x2F;" rel="nofollow">https:&#x2F;&#x2F;benbellabooks.com&#x2F;shop&#x2F;breath-from-salt&#x2F;</a>
dm8大约 1 年前
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&#x27;t cure it.
yalok大约 1 年前
I wonder if this applies to kidneys cystic fibrosis?<p>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.
clumsysmurf大约 1 年前
I wasn&#x27;t able to read the article (behind paywall) but this was also in the news recently, related to CF &amp; Zn.<p><a href="https:&#x2F;&#x2F;newatlas.com&#x2F;medical&#x2F;zinc-lung-macrophages-anti-bacterial-cystic-fibrosis&#x2F;" rel="nofollow">https:&#x2F;&#x2F;newatlas.com&#x2F;medical&#x2F;zinc-lung-macrophages-anti-bact...</a>
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warion大约 1 年前
This sounds bad and can give edge to republicans as generally rightist people have more incidence of CF