Table 2 Parents’ views about newborn screening

Positive

Early access to care

… it would be helpful because if you found right away if SMA was present, then I think that you can be more proactive and start with all the therapies and whatever kind of nutrition would be needed for whatever type that you have [9]

Shorten time to diagnosis

But some families they go to the doctor… their son, he’s not lifting his head ok we’ll give it another month, I think it’ll be okay give it another month, I guess I will do some testing, and sometimes their child has SMA type 1 and they don’t find out until they’re a year old. So I think that in those cases, in places that are not, that don’t have doctors that know about SMA, I think that it would be for raising awareness of SMA the screening, the newborn screening would be very beneficial. [10]

Prepare to care for a disabled child

…. And also as a parent you’re preparing yourself both socially and psychologically to be ready for what’s to come ahead. [9]

Help first-time parents who may not know developmental milestones

I think that’s a really wonderful idea because like I said the strongest thing for us was we were first time parents, we weren’t sure what was going on. …SMA is something we weren’t expecting and especially when the disease is so devastating, you know? It makes such a huge impact in your life, and the kid, not just a normal life but the mental health, physical, emotional, everything. [26]

Want information if it is available

Well I’m always for access to more information in general; I think it should be an option, absolutely. [44]

Negative

Prematurely affect my relationship with my child

…I don’t know that I would have wanted to know and look at everything like ‘Oh no is that a sign of SMA?’ [47]

Better not know in cases with very mild symptoms.

On the other hand I suspect there are people that have SMA that…they almost never find out or they’re so much older when they find out. They were better off not knowing…I’m not sure [7]

Cost-benefit of population wide screening for a rare disease

I think that I understand the reasoning why there is not newborn screening for SMA simply because it only effects 1 in 6,000 so I can understand that it’s very expensive to do for 1 in 6,000 babies then 5, 999 would not have it but I think that if we had all the resources in the world then absolutely. [10]