7 ms·

Ever since I've become a father, stories of children dying or just barely surviving have an immense emotional impact on me. I almost cried when I read that the

by adwn 5y ago

Ever since I've become a father, stories of children dying or just barely surviving have an immense emotional impact on me. I almost cried when I read that the boy from the article survived the operation and had a second, better chance at life. I can't imagine what his parents must have been going through. All this thanks to technological and medical progess. What would his fate have been 20 years earlier? 40 years earlier? Think of all the technology that was necessary to perform that operation. The technology needed to build and support that technology, ad infinitum. If you have the ability and the motivation to work in science or on new technology, please do so. Even if it's not directly related to medicine: Maybe that software you're writing will make it slightly easier to build other software that will make it slightly easier to build other software that will make it slightly easier to build a machine that one day helps save a young boy's life.

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. ---- [1] https://en.wikipedia.org/wiki/Ivacaftor https://en.wikipedia.org/wiki/Ivacaftor
- hycaria 5y ago
  All this when contemporary genetic counseling could drastically reduce the number of cases of CF.
brnt 5y ago
Thought I fully agree with your sentiment, I found working as a coder/scientist in a renowned hospital a braindeadening experience. On all sides walled in by commerce and vested interests, there is very, very, very little room for innovation. If there was, you'd be selected to be painting within the lines set out for you. Papers were glorified changelogs, and rather unsubstantive ones at that. I got very close to a burnout, on account of the vacuousness of the work. Personal marketing was the job, not actually coming up with better ways of doing things.
- canadianfella 5y ago
  > If there was, you'd be selected to be painting within the lines set out for you. What does that mean?
  - brnt 5y ago
    Larger 'innovative' projects ostensibly run by young researchers are often projects the institute/professor had already planned and done some (mental/political) groundwork for, rarely (ie never) were they on the intiative of the young researcher. Bandwidth for personal input from the young researcher was in practice very limited. Might have been a peculiarity of the department, afaik they attracted very few with their own money (and thus their own direction). The further you are from the clinic and thus the bread and butter of the massively overpriced commercial instrumentation makers, the more freedom there is. So, whatever you choose, your impact is limited. If you want to make a real difference, my impression was that you better cozy up to industry or step over altogether.
- deleted 5y ago
  [deleted]
disabled 5y ago
I have a very rare immune-mediated neurological disease affecting my peripheral nervous system, that started at age 5, in 1994. The disease was discovered on NIH research grant funds in the 2000s. But, the grant funding is never remotely enough, respective to need, for society. In 2012, my medical problems became so severe that I scavenged the medical literature. I was tremendously lucky to come across such literature, ultimately describing the disease I have. At the time, there were only 38 articles written about it. Anyways, I was tested for it, and I had the antibody. Soon after, I literally had a near-death experience. Anyways, I was 22, and I was basically a kid. My parents and my twin brother pretty much saw me on my deathbed. I am in pharmaceutical remission now, after trying about 10 different treatments, plus combinations of them. It was never statistically likely that I would end up like this, let alone be alive. I am culturally American, but I hold dual citizenship also with Croatia, so I am a European Union citizen. I am not as sentimental about being American as other people. Honestly, the only reason why I would never renounce my American citizenship is because the US ultimately saved my life, along with others around the world.
- Greek0 5y ago
  I've been wondering a few times about how to best search the medical literature given a set of symptoms. How did you search for and find your particular disease?
  - disabled 5y ago
    Honestly, it is a lot of work. I searched for years, whenever I had "free time" in engineering school, because my problems never completely added up and I could never put my finger on it. I very well felt like I was on borrowed time and I knew I was in a lot of trouble, health-wise. It took me about 4 years to figure it out. You have to keep an open mind, and PUBMED [1] is your friend. Also, if you do not have institutional access to journal articles, Sci-Hub [2] is your friend. Libgen [3] can also be your friend too. Searching Google Scholar with advanced key terms also helps, but I find it important to keep a paper log of my queries, so I can also follow my thought process. Ultimately, you have to learn how to be able to "play" with bits and pieces of information that you get from the articles, and make it (relate it) into something meaningful to you. It requires a lot of intuition, and if you find yourself bored, then you are not doing it right. Some people just have this sort of intuition, but anyone honestly can do it. Just focus on never getting bored with the information, and you will eventually learn this skill. Anyways, the rare disease I have is called autoimmune autonomic ganglionopathy [4]. I wrote a story [5] on how I figured it out awhile back. People seem to enjoy reading it. I guess the best way to answer your question: I basically searched everything I could about autonomic neuropathy (autoimmune autonomic ganglionopathy is a form of autonomic neuropathy--and I had already been diagnosed with "diabetes-realted autonomic neuropathy"), to see if there was anything that I could possibly relate to my situation. When the situation really got blown out of proportion, I started looking hardcore at really rare stuff. [1] PUBMED: https://pubmed.ncbi.nlm.nih.gov/ https://pubmed.ncbi.nlm.nih.gov/ [2] Sci-Hub: https://sci-hub.se/ https://sci-hub.se/ [3] Libgen: http://libgen.rs/ http://libgen.rs/ [4] US Government Information Page on Autoimmune Autonomic Ganglionopathy: https://rarediseases.info.nih.gov/diseases/11917/autoimmune-autonomic-ganglionopathy https://rarediseases.info.nih.gov/diseases/11917/autoimmune-... [5] My Story on How I got Diagnosed with Autoimmune Autonomic Ganglionopathy: https://rareandextraordinarycom.wordpress.com/2016/05/14/first-blog-post/ https://rareandextraordinarycom.wordpress.com/2016/05/14/fir...
deleted 5y ago
[deleted]

by adwn 5y ago

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. ---- [1] https://en.wikipedia.org/wiki/Ivacaftor https://en.wikipedia.org/wiki/Ivacaftor

hycaria 5y ago
All this when contemporary genetic counseling could drastically reduce the number of cases of CF.

brnt 5y ago

Thought I fully agree with your sentiment, I found working as a coder/scientist in a renowned hospital a braindeadening experience. On all sides walled in by commerce and vested interests, there is very, very, very little room for innovation. If there was, you'd be selected to be painting within the lines set out for you. Papers were glorified changelogs, and rather unsubstantive ones at that. I got very close to a burnout, on account of the vacuousness of the work. Personal marketing was the job, not actually coming up with better ways of doing things.

canadianfella 5y ago
> If there was, you'd be selected to be painting within the lines set out for you. What does that mean?
- brnt 5y ago
  Larger 'innovative' projects ostensibly run by young researchers are often projects the institute/professor had already planned and done some (mental/political) groundwork for, rarely (ie never) were they on the intiative of the young researcher. Bandwidth for personal input from the young researcher was in practice very limited. Might have been a peculiarity of the department, afaik they attracted very few with their own money (and thus their own direction). The further you are from the clinic and thus the bread and butter of the massively overpriced commercial instrumentation makers, the more freedom there is. So, whatever you choose, your impact is limited. If you want to make a real difference, my impression was that you better cozy up to industry or step over altogether.
deleted 5y ago
[deleted]

disabled 5y ago

I have a very rare immune-mediated neurological disease affecting my peripheral nervous system, that started at age 5, in 1994. The disease was discovered on NIH research grant funds in the 2000s. But, the grant funding is never remotely enough, respective to need, for society. In 2012, my medical problems became so severe that I scavenged the medical literature. I was tremendously lucky to come across such literature, ultimately describing the disease I have. At the time, there were only 38 articles written about it. Anyways, I was tested for it, and I had the antibody. Soon after, I literally had a near-death experience. Anyways, I was 22, and I was basically a kid. My parents and my twin brother pretty much saw me on my deathbed. I am in pharmaceutical remission now, after trying about 10 different treatments, plus combinations of them. It was never statistically likely that I would end up like this, let alone be alive. I am culturally American, but I hold dual citizenship also with Croatia, so I am a European Union citizen. I am not as sentimental about being American as other people. Honestly, the only reason why I would never renounce my American citizenship is because the US ultimately saved my life, along with others around the world.

Greek0 5y ago
I've been wondering a few times about how to best search the medical literature given a set of symptoms. How did you search for and find your particular disease?
- disabled 5y ago
  Honestly, it is a lot of work. I searched for years, whenever I had "free time" in engineering school, because my problems never completely added up and I could never put my finger on it. I very well felt like I was on borrowed time and I knew I was in a lot of trouble, health-wise. It took me about 4 years to figure it out. You have to keep an open mind, and PUBMED [1] is your friend. Also, if you do not have institutional access to journal articles, Sci-Hub [2] is your friend. Libgen [3] can also be your friend too. Searching Google Scholar with advanced key terms also helps, but I find it important to keep a paper log of my queries, so I can also follow my thought process. Ultimately, you have to learn how to be able to "play" with bits and pieces of information that you get from the articles, and make it (relate it) into something meaningful to you. It requires a lot of intuition, and if you find yourself bored, then you are not doing it right. Some people just have this sort of intuition, but anyone honestly can do it. Just focus on never getting bored with the information, and you will eventually learn this skill. Anyways, the rare disease I have is called autoimmune autonomic ganglionopathy [4]. I wrote a story [5] on how I figured it out awhile back. People seem to enjoy reading it. I guess the best way to answer your question: I basically searched everything I could about autonomic neuropathy (autoimmune autonomic ganglionopathy is a form of autonomic neuropathy--and I had already been diagnosed with "diabetes-realted autonomic neuropathy"), to see if there was anything that I could possibly relate to my situation. When the situation really got blown out of proportion, I started looking hardcore at really rare stuff. [1] PUBMED: https://pubmed.ncbi.nlm.nih.gov/ https://pubmed.ncbi.nlm.nih.gov/ [2] Sci-Hub: https://sci-hub.se/ https://sci-hub.se/ [3] Libgen: http://libgen.rs/ http://libgen.rs/ [4] US Government Information Page on Autoimmune Autonomic Ganglionopathy: https://rarediseases.info.nih.gov/diseases/11917/autoimmune-autonomic-ganglionopathy https://rarediseases.info.nih.gov/diseases/11917/autoimmune-... [5] My Story on How I got Diagnosed with Autoimmune Autonomic Ganglionopathy: https://rareandextraordinarycom.wordpress.com/2016/05/14/first-blog-post/ https://rareandextraordinarycom.wordpress.com/2016/05/14/fir...

deleted 5y ago

[deleted]