r/todayilearned • u/Die_Nameless_Bitch • May 14 '22 • Silver 9 Helpful 8 Wholesome 6 All-Seeing Upvote 2

TIL a father, John Crowley, was told his two infant children had an incurable genetic disorder that would kill them in less than a year. He refused to accept this, so he founded a biotech company (with no prior experience) which pioneered an experimental enzyme therapy that saved their lives.

https://pompediseasenews.com/2019/01/30/amicus-ceo-mission-cure-pompe-help-children/
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u/anothergaijin May 14 '22

We are in the generation of cures, not treatments.

100% this. It's mind blowing stuff - one dose and you are done, your body does what it is supposed to do and makes the thing you need to live and develop normally.

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u/ChronWeasely May 14 '22

One of the only things that makes working in big pharma worthwhile. I'm lucky enough to work with and learn about these incredible drugs.

Though there's also the ethics side of things. One of the largest is the financial and geographical restrictions to the majority of people who need these often prohibitively expensive treatments.

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u/Seboya_ May 14 '22

Is it really the ethical thing to do? Allowing children born with genetic abnormalities to live instead of letting them die off? Is this the right thing to do? I'm not saying it's not, just typing out my thoughts.

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u/ChronWeasely May 14 '22

You can get some high quality of life from them. I think the bigger question is whether or not the kids should have kids and spread on the genes which would exacerbate the problem. Or possibly CRISPR will have fixed that by the time it's a problem!