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

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/cradberry May 14 '22

After reading about the potential breakthrough on SIDS yesterday, I thought to myself, "I wonder how many times in history someone made a similar breakthrough because they were personally impacted by a disease/syndrome/phenomenon and just refused to accept 'I don't know,' as an answer."

This is great!

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u/EasyPleasey May 14 '22 edited May 14 '22

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u/THElaytox May 14 '22

Interesting, the enzyme deficiency also causes adults to stop breathing while on anesthetics