Spinraza is a pretty remarkable wonder drug. My genetics professor in med school worked on the team that figured out the first pre-natal screening assay for it and got it on the NYS pre-natal screening panel.
Imagine a disease where your infant is born, the damage already done, most likely quadriplegic and needed respiratory support. Almost always fatal.
If you can detect it early enough (this the pre-natal screening) you can give it in-utero and that child will be born and grow up with mostly the same mobility as normal.
Our professor was talking about how this is a good exam of how wonder therapies aren’t very good if you can’t detect diseases early. Sure a baby born with SMA who receives this will do better but most probably will utilize mobility aids and need OT and PT for the rest of their life. But if you get to them early you can save their life.
And then she said that 3yrs prior they had successfully detected and administered Spinraza in utero and she flicks on a video of a toddler toddling across the room to hug her at a follow-up.
ichoosetosavemyself on January 19th, 2022 at 06:31 UTC »
Ok...how is someone able to just chill with a $2.1M box of medicine...taking pictures and posting to reddit?
Jewelry stores literally have armed guards for less.
Implausibilibuddy on January 19th, 2022 at 12:04 UTC »
Do not shake | Do not refreeze
Sound parenting advice.
iamtwinswithmytwin on January 19th, 2022 at 13:13 UTC »
Spinraza is a pretty remarkable wonder drug. My genetics professor in med school worked on the team that figured out the first pre-natal screening assay for it and got it on the NYS pre-natal screening panel.
Imagine a disease where your infant is born, the damage already done, most likely quadriplegic and needed respiratory support. Almost always fatal.
If you can detect it early enough (this the pre-natal screening) you can give it in-utero and that child will be born and grow up with mostly the same mobility as normal.
Our professor was talking about how this is a good exam of how wonder therapies aren’t very good if you can’t detect diseases early. Sure a baby born with SMA who receives this will do better but most probably will utilize mobility aids and need OT and PT for the rest of their life. But if you get to them early you can save their life.
And then she said that 3yrs prior they had successfully detected and administered Spinraza in utero and she flicks on a video of a toddler toddling across the room to hug her at a follow-up.
Not a dry eye.