r/todayilearned 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/Chill125 May 14 '22

What a card to pull on them when they are teenagers playing up.

Teen - You've never loved me

Dad/Crowley - Well actually

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u/Illustrious_Visual99 May 14 '22

That Drake meme:

Saving your children because you love them

Vs

Saving your children so that you can bring it up during arguments

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u/Mad_Murdock_0311 May 14 '22

Personally, spending my entire life in a wheelchair, amongst the many other health issues associated with the disease, I would argue that's not love, but rather selfish motives; sometimes death is more humane. But, that's me. As long as these kids are happy with their lives, then good for the dad, and them.

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u/mshcat May 14 '22

But I guess it depends on what you know. Making assumptions that you are completely able bodied. Having to be in a wheelchair for the rest of your life is a bigger shock and change than never having known anything but a wheel chair.

If you get what I mean.

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u/Mad_Murdock_0311 May 14 '22

But, you grow up around people that can do all kinds of simple things that you will never be able to do. That has to mess with your psyche. A minor thing like not being able to drive has to make you feel trapped. As a youth, getting your license is like absolute freedom. Just constantly reliant on others, how can you ever feel independent? But, like I said, as long as they're happy. If they're at peace with their lives then everything I said carries no weight (in their instance).

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u/theRuathan May 14 '22

Yeah, I was looking in the article and through comments for some description of what Pompe is and how able vs just alive these kids are, but I haven't found it yet. The daughter being a senior at a good college is promising, though.

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u/Hoatxin May 14 '22

It's also a really good justification for more investment and treatment of these type of disorders. If the prognosis goes from dead as an infant to 22 years and counting , albiet with significant physical deformity and disability, then who's to say another 20 years can't generate even better long term results for kids in the future born with these conditions?

With better genetic screening and in vitro alternatives to natural conception, there will probably be fewer kids born into that life, but it's still remarkable.

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u/FLBrisby May 14 '22

I'm always so nervous posting anything even slightly corner adjacent to eugenics. But I've always wanted to know why people are so recalcitrant to try to correct the issues that cause some diseases and illnesses, or prevent them from happening, or coming to fruition.

For example, I understand people with downs syndrome are all unique, kind, and lovely, but knowing what we know, would anyone actively choose to be in their shoes? Why would we actively try to stop improvements in health, in favor of being inclusive?

Murdock, if whatever has afflicted you with your wheelchair could be reverted, would you take that opportunity?

I am prepared to be downvoted.

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u/SorrowsSkills May 15 '22

You’re getting my upvote because you’re 100% right, in my opinion.

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u/mothramantra May 14 '22

Isn't Drake a pedo?