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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.


Ggfd8675 t1_ivvjmim wrote

NYT has being doing amazing investigative reporting on a similar issue with prenatal screens:

FDA issued a warning to parents:

This is a different type of testing than the newborn screen (blood spot cards) you are talking about. It’s screening fetal genetic material in maternal circulation during pregnancy. But this also has the problems of false positives and failure to properly counsel parents about the result.


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.


bassisafish t1_ivvmspw wrote

I’m sorry to hear about your experience with being hit with a false positive. One of the biggest obstacles in Pompe screening is the presence of pseudodeficiency alleles, where there is a deficiency in the GAA enzyme but not deficient enough to cause the Pompe disease. In my screening program almost 50% of all positives end up becoming false positives because of this, I wonder if you know if this was true in your case?

To answer your question, the treatment used in utero is actually the same treatment that has been always used for newborns with Pompe and other genetic diseases (enzyme replacement therapy). The reason why this treatment is big news is that this is the first time it’s been done in utero, which is a big deal specifically because infantile onset Pompe can be irreversibly fatal within a couple months of birth, so even with screening sometimes it can be too late to begin treatment.


Juniper_Moonbeam t1_ivvs072 wrote

I have no idea what caused our false positive. Form what we read just about anything from not letting the blood spot dry long enough to letting it be too exposed to light could cause the positive. On retest the baby had normal values.