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The article hints that the operation described took place 20 years ago. Already, in that time, we've made significant progress treating cystic fibrosis: we've d
by azalemeth 5y ago
The article hints that the operation described took place 20 years ago. Already, in that time, we've made significant progress treating cystic fibrosis: we've developed ivacaftor, the first 'designer drug' that can really fix the disease, means that were they born today it's more likely that they wouldn't need the transplant in the first place. In some forms of cystic fibrosis, there is a specific genetic deficit that prevents the chloride channels in the lungs from functioning properly, meaning ultimately that patients get thick and sticky mucus in their lungs that becomes very easily colonised by bacteria (as well as many other problems elsewhere too). If they have the "right" form of cystic fibrosis, Ivacaftor specifically binds to their chloride channels, and improves the transport of chloride through the ion channel by binding to the channels directly to induce a non-conventional mode of gating which in turn increases the probability that the channel is open. It's a lifechanging / lifesaving drug, and it came on the market in 2013.
The design and implementation of ivacaftor relied upon knowledge from physics and mathematics to clinical medicine. I am a physical scientist working in healthcare (in medical imaging) and I feel overwhelmingly lucky that I am able to work on problems like this. But I am acutely aware that it is the end of a very long road: I use aspects of what was theoretical physics, worked out in the 1960s and 70s (especially by a French/Russian physicist called Anton Abragam) together with giant chunks of mathematics and statistical understanding -- all to work on complex problems in biology and medicine. Just because you do not work on medical problems directly does not mean that your work is not of use to us! I, my team and my colleagues, benefit hugely from technology ranging from the Linux kernel to "how I hacked this" guides on the internet.
Unfortunately, Ivacaftor is an insanely expensive drug. In the USA, it apparently costs "over US$300,000 per year" [1]; my copy of the BNF (79 -- March to September 2020) lists the price that the NHS pays as around £14k per month (~£168k pa). This is a lot of money -- and it will save a life. Unfortunately, it is my opinion that many of the largest problems facing the healthcare systems around the world at the moment are political. The nurse who wrote this article was employed in the UK, where taxpayers make the extremely altruistic generosity of the NHS a (strained, breaking) reality. We get economies of scale. But the system is utterly close to collapse -- there are around 100,000 job vacancies within it, there aren't enough healthcare professionals, and many in the profession are leaving for elsewhere due to extreme overwork and the effects of the pandemic. Some countries have it far better (e.g. Denmark) and others have it much, much worse. One of the things I am personally proud of is that the NHS and universities system in the UK explicitly do not have profit as a motive and the horrible decisions of "is it worth spending this amount of money to have a chance at saving a life" are taken out of the hands of patients and almost all clinicians: there are guidelines, they are evidenced-based and aim to be objective, and they are, broadly speaking, followed. It is for that reason that the mother of the child in the story "only" has to deal with the horrendous emotional trauma associated with his illness, and not necessarily the punishing financial cost associated with being a transplant recipient, dependent upon cyclosporin for the rest of his days, and with the threat of other problems later on (e.g. 'too small for size' syndrome, requiring another transplant). Other parents, and other children with cystic fibrosis elsewhere in the world, are not so lucky.
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[1] https://en.wikipedia.org/wiki/Ivacaftor https://en.wikipedia.org/wiki/Ivacaftor
- hycaria 5y agoAll this when contemporary genetic counseling could drastically reduce the number of cases of CF.