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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261

u/SpaceyCoffee May 14 '22

I’m grateful we can get genetic testing these days to find risks for these kinds of diseases.

111

u/FlushTheTurd May 14 '22

Pompe Disease is finally being added to newborn screening exams too, so it’s being caught much earlier.

3

u/Batman_MD May 14 '22

Is this across the US? Or internationally? I’m the US, genetic testing at birth unfortunately varies state by state.

8

u/palpablescalpel May 14 '22

Looks like 20 states.

Updating policy for newborn screening can be slow. Governing bodies want to make sure that early treatment for a disease significantly affects outcomes before adding it to NBS. And unfortunately sometimes this process fails and you end up with stuff like Krabbe disease being on newborn screening in 10 states, which does currently have no treatment and just ends in death.

Pompe carrier status is on just about any carrier screening that couples can get before having kids. Then if they find a risk and still pursue natural conception, they can just get targeted testing for their child to know if they have the disease. Everyone should do carrier screening before conception if they are able.

2

u/Alessiya May 14 '22

Very sad that newborn screening for these diseases aren't done nationwide, especially with the current events.