Heel Prick test

[Ferfecksackmammy]

Britain currently screens for 9 conditions on the heel prick test that is done about 5 day after birth.
The UK is way behind a lot of European countries where they screen for many more (Italy screens for 48) .

I am particularly interested in Spinal Muscular Atrophy as this is a condition my son has and as a consequence is a full-time wheelchair user, uses Bipap at night and wears a spinal brace. There are treatments available for this condition and as it is a degenerative disease early intervention is key. There have been cases of children treated shortly after birth that have no symptoms at all.

My son currently is under the care of 3 consultant's and regularly sees two different physio therapist, occupational therapists, 2 different orthotists and many more health professionals.

There are 3 treatments available and all stop the progress if the disease.

AIBU to think that it makes complete sense to add this condition to the heel prick test?

YANBU, wish the test covered all 48!

Bump

I have a 6mth old and he was tested as part of a trial in my trust. So no, YANBU and it's on the cards.

I’ve never thought about it but what you’re saying makes total sense. Is it a cost thing here? From a parental point of view, if they can test for more things just from the same tiny about of blood that is taken, then that can only be a positive.

I'm currently part of a campaign to have it added I can't understand why this has to be such a fight. If its about money it makes sense to treat early and in the long-term save money. My son is going to need support for the rest of his life. Yes the treatments are really expensive (hundreds of thousands at least) but he's still receiving the treatment bit now needs so many additional services.

It looks like the Netherlands added this one in 2022 and currently have 26 tests. Hopefully the uk follows soon

I knew something wasn't right from about 5 months old but the symptoms could have been just slow development. It took nearly 6 months to get a diagnosis. In that 6 months he was seeing a physio, and was seen by a neurologist. There was no obvious reason to suspect SMA. If new born screening was available when my son was born there would have been a delay in treatment as the first treatment was not approved until he was 5 months old but he would have received the treatment then.