2 ms·

Well, my understanding is you are simply born without a vas deferens (for most men with CF). But some of the other stuff may heal at least partially.

Scoundreller 3y ago
ok, now you got me wondering... could a pregnant mother take this drug if they're at high risk of their fetus having CF (or confirmed via pre-testing) to prevent this? (Or possibly will continue taking it if they have CF as we can expect more CF patients to have children)
- trollian 3y ago
  No.
- DoreenMichele 3y ago
  It's a homozygous recessive disorder. If two carriers reproduce, there is a 25 percent chance the child has CF. If a woman with CF has children with a carrier, there is a 50 percent chance the child has CF and a 50 percent chance the child is a carrier. Ninety-five percent of men with CF lack a vas deferens, leaving them effectively sterile. The medical community is understandably reluctant to assist two people with CF in reproducing together as their child is guaranteed to have CF. If you are at risk of having a child with CF and know it, a best practice is to try to not conceive a child with CF. I doubt taking a drug during pregnancy would prevent a male child from being born without a vas deferens and see no reason to care. Just try to not have a baby with CF. It's called a Dread Disease for a reason.
- _ihaque 3y ago
  Surprisingly, sort of. It won't alter the underlying genetic condition, but there has been at least one case report that taking these CFTR modulators during pregnancy can improve the condition of the fetus/newborn: https://www.sciencedirect.com/science/article/pii/S1569199321001004?via%3Dihub https://www.sciencedirect.com/science/article/pii/S156919932... https://med.stanford.edu/news/all-news/2023/07/cystic-fibrosis-pregnancy.html https://med.stanford.edu/news/all-news/2023/07/cystic-fibros...
  - DoreenMichele 3y ago
    Both of these babies are female. I am not at all surprised that the drug helped in the way described in the articles, but it doesn't actually indicate whether or not it could impact the vas deferens since that's a defect in the male reproductive tract. According to the CF Foundation, the cause of the lack of the vas deferens is not conclusively known. https://www.cff.org/managing-cf/fertility-men-cf https://www.cff.org/managing-cf/fertility-men-cf
bdcravens 3y ago
I believe that the thick mucus present in the body more or less destroys the vas deferens, so we are born with it, but quickly lose it. The scarring of the lungs and pancreas really can't be reversed.
- DoreenMichele 3y ago
  Well, I no longer have a hole in my left lung, so I am unable to entirely agree with you. But I also don't care to discuss this further on HN.
  - bdcravens 3y ago
    Holes != scarring

Scoundreller 3y ago

ok, now you got me wondering... could a pregnant mother take this drug if they're at high risk of their fetus having CF (or confirmed via pre-testing) to prevent this? (Or possibly will continue taking it if they have CF as we can expect more CF patients to have children)

trollian 3y ago
No.
DoreenMichele 3y ago
It's a homozygous recessive disorder. If two carriers reproduce, there is a 25 percent chance the child has CF. If a woman with CF has children with a carrier, there is a 50 percent chance the child has CF and a 50 percent chance the child is a carrier. Ninety-five percent of men with CF lack a vas deferens, leaving them effectively sterile. The medical community is understandably reluctant to assist two people with CF in reproducing together as their child is guaranteed to have CF. If you are at risk of having a child with CF and know it, a best practice is to try to not conceive a child with CF. I doubt taking a drug during pregnancy would prevent a male child from being born without a vas deferens and see no reason to care. Just try to not have a baby with CF. It's called a Dread Disease for a reason.
_ihaque 3y ago
Surprisingly, sort of. It won't alter the underlying genetic condition, but there has been at least one case report that taking these CFTR modulators during pregnancy can improve the condition of the fetus/newborn: https://www.sciencedirect.com/science/article/pii/S1569199321001004?via%3Dihub https://www.sciencedirect.com/science/article/pii/S156919932... https://med.stanford.edu/news/all-news/2023/07/cystic-fibrosis-pregnancy.html https://med.stanford.edu/news/all-news/2023/07/cystic-fibros...
- DoreenMichele 3y ago
  Both of these babies are female. I am not at all surprised that the drug helped in the way described in the articles, but it doesn't actually indicate whether or not it could impact the vas deferens since that's a defect in the male reproductive tract. According to the CF Foundation, the cause of the lack of the vas deferens is not conclusively known. https://www.cff.org/managing-cf/fertility-men-cf https://www.cff.org/managing-cf/fertility-men-cf

bdcravens 3y ago

I believe that the thick mucus present in the body more or less destroys the vas deferens, so we are born with it, but quickly lose it. The scarring of the lungs and pancreas really can't be reversed.

DoreenMichele 3y ago
Well, I no longer have a hole in my left lung, so I am unable to entirely agree with you. But I also don't care to discuss this further on HN.
- bdcravens 3y ago
  Holes != scarring