Juniper_Moonbeam t1_ivvlrpl wrote

We got the NIPTS testing you’re referring to in the NYT study and that the FDA is talking about. Before we got it, I read a lot about it and had a long conversation with my doctor. I knew the risks going into it, and understood exactly what it was (a screening tool to assess risk) and what it was not (a diagnostic test). I had a great experience with the NIPTS and would do that again.

For the state blood spot screen, barely any information was given to me, and it was presented as mandatory. I did not understand it well, and didn’t have a conversation with a healthcare provider about it before it happened. So when we got our false positive I freaked the f out. Would not recommend. Sometimes I think this is what the FDA should be warning people about. But I understand the importance of it.


Juniper_Moonbeam t1_ivth84y wrote

This is excellent news. Our state (VA) does a newborn screen and Pompe is one of the diseases screened for. We got a false positive on the state screen for Pompe, and we spent a full month absolutely convinced our newborn was going to die. Luckily, as with most of the positives states get for this disease on the screen, we had a false positive and our baby is thriving. This was not a disease I needed to binge read about in the thick of newborn sleep-deprived stupor.

I’m so happy for this family. I know that there has been a lot of work done on this therapy, and a lot of it was pioneered by a guy who had two daughters with the disease. They actually made a movie about him starring Brendan Fraser and Harrison Ford called Extraordinary Measures. Maybe some day I’ll get up the courage to watch it.

I am curious—is this therapy going to be more widely applicable to other diseases? I also wonder if this could help kids who test positive on a newborn screen, rather than in utero.

Edit to add: my husband and I are actually participating in a study right now about how parents who experienced false positives perceive their baby and parenthood. This has a big impact on people, apparently.