37 pointsby Snoozus5 hours ago3 comments
  • tylermcgraw4 hours ago
    This is the model for rare diseases that wouldn’t be profitable for pharmaceutical companies. Spinal muscular atrophy (sma) is another example that comes to mind.
    • david_shi2 hours ago
      Seems insane that profitability so heavily dictates what is researched and what isn't.
      • silisili2 hours ago
        I don't mean to disagree with you in spirit, but profitability is pretty closely entwined with probability. So companies are chasing solving problems that more people have, even if it's for the wrong reason.
        • ehnto2 hours ago
          As the benefactor of an extremely rare disease, it's not exactly unfair when you look at it from a societal view. If you solve a higher probability problem, you are helping far more people.

          The real tragedy isn't the allocation of the resources we have spare, it's that so many of our resources are not spare because billionares and corporations have hoarded it.

          Without changing the percent of allocation, and only changing input resources by capturing it back from billionaires as taxes, we could be helping far more people including super rare diseases.

          • AdamNan hour ago
            I don't know how much longer it will last but the US government invests significant resources into rare diseases in order to improve outcomes where the normal market wouldn't otherwise support the r&d.
          • silisili2 hours ago
            Absolutely.

            And if you take a step back and look at Covid spending, what it was spent on, and how much fraud was involved, it's absolutely maddening that the government isn't instead spending money on solving actual problems its constituents face. We basically just shoveled free money at anyone who claimed to have a business, to no real effect.

            C'est la vie, I guess.

      • alex43578an hour ago
        A metric other than profitability seems like a terrible target for private research which (outside of a charity or cause-driven org) needs to justify its expenses.

        In the US alone, we have dozens of grants, programs, and funding sources for things like orphan/rare diseases.

        • johanvtsan hour ago
          Profitability works because it is/was a good proxy for utility. This breaks as wealth becomes unevenly distributed.
      • big-chungus4an hour ago
        The reason why it's less profitable is because it will help less people. If profitability didn't dictate what is researched, widespread diseases would get less researched and rare diseases - more researched, which would be a net negative.
      • heavyset_goan hour ago
        IMO the issue isn't discovery and research, it's development. Unless companies foresee a good return for buying/licensing/etc rights to treatments, discovered drugs with potential just sit there.

        What sucks is when drugs are deliberately not brought to market, but kept in portfolios, because it might impact sales of other existing cashcows. For example, Gilead has a history of staggering the release of new drugs only once their patents expire for similar drugs they already have on the market.

      • s1artibartfast2 hours ago
        I find it makes more sense if you drop the corporate analysis and just think about people.

        Money motivates them and is why they go into hospitals or research labs instead of staying home with their family or friends.

    • Incipient4 hours ago
      That's one reason why privatised health is rubbish. "profitable" treatments should be used, in part, to subsidise the cost of unprofitable ones.
      • Aurornis4 hours ago
        No medical system, public or private, has infinite money.

        There will always be decisions made about which conditions get research and which don't. It's unlikely that a disease this rare would be prioritized by a purely government run system, either. There are too many more common diseases to address first.

        • AdamNan hour ago
          It's a little bit the opposite. Private groups are focused on profits but there are gov programs to support the rare disease research that would otherwise go unfunded in a pure market system.
      • renewiltord4 hours ago
        I frequently tell people this. We can solve so many illnesses cheaply. Instead we should charge a lot of money and spend that money on things like haemophilia that affect a few people. Imagine a world where the flu vaccine and COVID-19 vaccine cost $1000 each shot. We could mandate it and then the enormous profits we make we could dedicate to things like this family's illness. All we need is for the government to take control and jack up the prices and then to make it illegal to not get the flu shot.
        • sokka_h2otribe3 hours ago
          Uhh, you know you could skip the vaccine and just call it a tax..
          • renewiltord3 hours ago
            That wouldn't guarantee subsidization of expensive treatments by cheap ones and therefore is fascist.
    • yieldcrv4 hours ago
      > diseases that wouldn’t be profitable for pharmaceutical companies

      I remember when that observation was discredited as a conspiracy theory

      • wat100004 hours ago
        I’ve never seen that discredited. Are you confusing the obvious fact that they won’t pursue unprofitable drugs with the much more dubious idea that they won’t pursue profitable cures because ongoing treatment is even more profitable?
        • Aurornis4 hours ago
          The dubious idea is that eliminating private medical care systems would open up a world of research into treating very rare conditions with high R&D costs.

          If this was true, why wouldn't all of the countries with socialized medicine be doing it already?

          • paulryanrogers3 hours ago
            The US already was, and to since extent still does. Same in the UK and other parts of Europe. Government funds a lot of medical R&D.

            Thank them for the fundamental research that lead to the COVID vaccine.

      • AdamNan hour ago
        Where and when?
    • wjxgxey4 hours ago
      pfft just illusion of control theatre for people who are scared of death. Throw in some opportunists exploiting it. Just watch what happens if there are unintended side effects. Its okay to die guys. Everyone does it. The sky doesnt fall.
      • silisili2 hours ago
        As much as I love this forum, the one thing I learned to never say is that it's normal and even good that people die (usually on threads about people trying to live forever).

        I've never received such hateful responses on any other topic.

        • wjxgxey2 hours ago
          Keep saying it. They will get used to it. Just like the earth is round. Thats how they "learn" most things in the first place. Not by discovering it by themseleves, but through repeating what the majority around them say.
          • zdragnar8 minutes ago
            A few generations back, it was expected that half of your children would die before they reached their fifth birthday.

            Death is inevitable, but that doesn't mean we need to accept that all the things that could kill us are also inevitable.

      • zdragnar3 hours ago
        Dementia is a terrible way to go, both for the people who get it and for their loved ones who are with them.

        One day, my grandmother forgot English when my uncle was visiting and kept speaking in her native tongue and got so mad because nobody understood her.

        That was one of the few amusing anecdotes from get decline. The rest are just depressing.

        Watching your father cry because he went to the hardware store and couldn't remember how to get home and had to ask an employee to call his family for him, for example, was particularly tough.

        • wjxgxey3 hours ago
          You know why that happens? Because the health care system slows natural decay rate of some subsystems (via pills/surgeries etc) while having nothing to offer for other subsystems. So rather than all subsystems decaying together we produce this mismatched state.
          • zdc13 hours ago
            You can't really blame the healthcare system for this. Alzheimer's and Dementia existed before modern medicine. The reality is that many fit, active, and otherwise healthy people will hit their 60s and 70s and will experience cognitive decline and Alzheimer's.
            • wjxgxey2 hours ago
              They hit their 60s and 70s because the health care system is good at fixing certain physical issues not bugs accumulating in the brain. The brain just like your OS cant just keep getting patched forever. So currently people just keep patching older wearing out hardware without any software upgrades available.
          • AdamNan hour ago
            That would happen even if there was no medicine at all. It's not like in the natural world disease and dying is smooth. Individual systems fall apart and then the rest of the organism dies slowly or quickly.
          • temp_praneshp3 hours ago
            That's the response you have to the parent's anecdotes?

            I hope that one day you are not sad and angry anymore.

      • david_shi2 hours ago
        If everyone had this attitude we'd still be dying of tuberculosis and countless other diseases.
  • georgeburdell3 hours ago
    I know another family like this. One partner still works, but the other one is essentially a full time advocate for an inherited disease that fewer than 100 people in the world are affected by. I don't think much money is involved, but they've changed the narrative about the disease and some researchers are taking them seriously.
  • the_wolo2 hours ago
    If so, good for them, good for the humanity, but what we actually must do is to ~~expropriate~~ ~~socialize~~ democratize the means of production.
    • radu_floricica31 minutes ago
      Poe's law? Can't really tell, with the internet these days. Things are so polarized that people talk from and to their tribe and the message is often understood to be obvious.

      Anyways, in case you're serious: there is a famous thought experiment about healthcare: should a hospital administrator approve a complex and expensive treatment to save a 7 year old girl, with a 100% success probability? Or more to the point: is approving this a "good" act, or a "bad" act? The unintuitive answer is that it depends on the opportunity cost long term, and the math is far from obvious. The quick answer is often "not even wrong" - it simply ignores a lot of facts down the line. The same cash can be used very boringly to do maintenance or to buy a piece of life saving equipment.

      And it gets very dirty very fast. The easy version is pay for the operation vs buy an MRI machine - in this case you can at least compare apples to apples, if you squint - an MRI machine also saves lives. But if the alternative is renovating a waiting room, you're really off the deep end. Because doing it one time it's an obvious decision: just save the life. And it's not even bad as a general policy: have waiting rooms be a bit dusty, if this means spending more money on treatments. But... how much to cut, exactly? And then you have second order effects: throwing a moderate amount to waiting rooms can make them look a lot better, while having it linger in disrepair can make people actually avoid the hospital (if they can't even paint the walls, why would you trust them with your life?).

      And all of this is assuming the hospital admin actually has mental bandwidth and latitude to make this decision. In practice, he's looking at the kid's mom when he has to turn her down because the operation money would pay for renovating a whole hospital wing. And the mom is an influencer with a large following.

      > democratize the means of production

      This means having humans make such decisions, and even worse, it means a committee or a mob will make such decisions. Zero skin in the game, all vibes and feelings. Some girls will get saved, but I've seen how hospitals look in such a system, and it's not good.

      To note: the US system may or may not be "democratized", but it managed to have exactly the same flaws - most decisions are taken by humans in a bureaucracy. The government simply wrote the rules then outsourced the bureaucracy and the blame to private corporations.

    • onion2kan hour ago
      In this case (and probably lots of others) the amount of resources needed to make an impact on the problem means that it would never work if the funding was decided through a democratic process. As soon as a committee of people are deciding to where to put resources they decide to share it between a number of worthy causes, and that means none of them get the bulk of what's available. If you have something that's percieved to be a relatively small problem by people it isn't directly impacting every day, that needs a lot of resources to fix it, then it's never getting done.

      (Tech-related side note: This is why companies build mountains of tech debt unless there's a former engineer running the show.)

    • CMay2 hours ago
      the reason your encouraged approach tends to produce poor results, is that you increase the distance between the decisions that need to be made and the people who understand how to make the decision or whether a decision is even valuable to make.

      it is basically an unsustainable structure. there's not much value to replacing one structure which you might think is unsustainable with something equally or less sustainable that also produces worse results anyway.

      another issue is that it can dilute responsibility and someone will take more assertive control anyway which further reduces the quality of decision making. someone still has to enact and enforce the decisions, so whoever does the enacting has to obey and whoever does the enforcing has to enforce the right thing. it's easy to end up with a bunch of people influencing things for their own reasons which have nothing to do with maximizing the production of good results.