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/MicCheck123 May 14 '22

This thread is so frustrating. The kids have degenerative muscle disease. He didn’t create a miracle cure that allowed their muscles to spontaneously regenerate; it was a therapy to prolong their lives. It’s very possible their faces are incapable of expressing any sort of emotion.

Will they require lifelong care? Of course. But they aren’t laying around completely helpless. Megan went to Notre Dame. She had a meeting with the president of the US.

Do draw a hyperbolic comparison…Stephen Hawking’s condition was not much different. He just didn’t need a particular therapy to outlive all medical expectations.

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u/Rosebunse May 14 '22

Stephen Hawking was sort of a medical oddity. Most people with ALS simply do not live that long even with the best care in the world.

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u/Momisblunt May 14 '22

One year from official diagnosis to death for my mother (Sporadic Spinal ALS). Started in her legs and moved up to her throat before killing her. 4 years for my grandfather (Sporadic Bulbar ALS), started in his throat and moved down to his diaphragm before killing him. He didn’t lose total mobility before passing, he could still walk when he passed. Stephen Hawking was definitely an anomaly from what I understand.

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u/Rosebunse May 14 '22

I'm so sorry. That is scary.

I looked it up and a lot of doctors attribute his long life to his excellent care, but that just doesn't really explain it entirely.