PKU any HCP about.

[LinnetBird]

Had to nc for this as family on here and don't want to scare them or be noticed.

OK, one of my grown up dc had a seizure and has awful breath, always has.
Another has mh and behavioural problems, and two were developmentally delayed.

I have just found out that I belong to a group genetically proven to have a much higher percentage of PKU than the general population.

I'm trying to find out how long the test has been going for babies, if everyone has the test, and if there's any chance that babies could miss the test.
Meaning, is it double checked and done in a way it couldn't be missed.

In ireland so may be different but certainly here it's been going a lot longer than that and theres no way it could be missed either....its checked and rechecked

Did your children all get the heel prick test a few days after birth as that's when it's tested for. My kids did and my eldest is 16

I think it started in the 1950s with a nappy test then pinpricks 1969. It's all available on Google.

I believe my dc had the heel test, but they are older so awful as it sounds I can't remember.
If it was standard practice then I'm sure they did. They are 28, 15 and 15 years old.
It just seems that with the one suffering the bad breath and seizure points to PKU, I know the other issues with the others could be attributed to lots of different reasons, but just wanted to make sure they all had it back then.

Googling suggests PKU has been tested for since the 1950s

It is standard practice now. Has been for decades.

However, I'm sure you can get retested if you are worried and diet modification can help even at a late stage.

It's a 1/40 chance rather than a 1/16,000 of the rest of the country in question, population.
Thought to be 1/4 carrying the gene.
I don't want to bother a gp necessarily so wondered if it was likely or very unlikely that it was missed or recorded incorrectly with the one showing most symptoms.

If I was you, I'd go and talk to my GP.

I've googled a lot, and know about the tests, and presumed mine had had them.
I've read the findings of reports, and as much as I can find, but it would answer a lot of questions to the health of one of our dc.

I think I'll just have to tell dc with the symptoms and leave it to them to decide whether to see their gp.
I'm pretty certain I didn't have the test even though it's been around since the 50's. I think it was 1969 when it became widespread.