To wonder why more people don’t know about this

[Armadilloboss]

I have PKU. I was diagnosed when I was born. My elder sister also has it. I’m now 32, and whenever I have had to mention it to anybody, not one person has known what it is. This includes teachers, doctors, pharmacists and midwives.
Given that PKU is one of the main conditions tested for during the heel prick when a baby is born, aibu to think more people should know what it is? Do people not ask what the test is for?

Yes but have a PhD in biochemistry and studied clinical and metabolic disorders
I'd be surprised if clinicians didn't know what it was but you may have to remind some who perhaps work distantly from such disorders as not all medics know everything about everything

As previously said we teach it at GCSE and A level Biology

Right, I've googled, and I still don't understand why this would be on fizzy drinks or chewing gum! It seems that people with PKU have to avoid aspartame, but surely they just know this? Is it printed on chewing gum packets/fizzy drinks bottles?

As an NCT antenatal teacher I know what it is and tell expectant parents what the heel prick test is testing for.

Hi I’m going to send you a PM as otherwise v outing

@Wellmet it is printed on anything that contains phenylalanine as it’s consumption is toxic for people with pku (in particular, children with pku) and can cause brain damage

Sorry to hear it restricts your life OP...if you were my friend I would be understanding. Just because I don't know much about it doesn't mean I wouldn't take your needs seriously when you told me. I don't think 'not knowing' is the problem here.

I know what it is because I'm a midwife and I give a brief explanation of PKU when obtaining consent for the heel prick test but I've only met one person who has it. I expect my students to know what it is so I'm sorry to hear that you've met midwives who are unaware of PKU.

I know because I too have known someone with the condition and as part of my childcare qualifications we looked at tests done in pregnancy.

No idea why having PKU means you can't go to certain places though? My understanding was that the primary implication is life-long diet low in protein, with supplements.

I know OP- no medical training, just an interest in health.

I have an unusual lung condition and despite telling my medical team last time I went in for an unrelated surgery, they didn't listen or know about it so I crashed in recovery. When I came back and was back on the ward, the nurse came and apologised and said she had now read up on my condition and understood the complicationswhoch caused my crash!!! Nothing from the doctors....

So I understand your frustration OP, although your condition is obviously more present that mine so people should be aware.

Ok, well Google images suggests that products have warnings saying 'contains phenylalanine'. Nothing about PKU. You know these two are linked because you have PKU, but the idea that I would know what PKU is if I have ever consumed fizzy drinks is just bizarre.

Anyway that's off topic a little. I'm sure it's very frustrating for you.

@jgjgjgjgjg it’s very near impossible to eat out when you can only eat 4grams of protein a day. A single packet of crisps is on average 2.7grams.
Holidays are extremely difficult as you don’t know what will be available and often have to travel with 2 weeks worth of food. I also take 85 tablets a day which is very disruptive.

I had to google although both of my babies had the heel prick test. One of the conditions that they test for is one I was particularly concerned about as there was a possibility they’d have it (I do) but they didn’t. I guess I was so focused on that aspect I didn’t really pay attention to the other ones listed on the leaflet.

I have a friend with PKU so I know that one, but I couldn't tell you about anything else the heel prick tests for as they don't impact my life at all.
I too am confused as to how it impacts your social life though? Where can't you go? I eat out a lot with my friend and we are yet to find somewhere that won't cater for her, even if it's just Jacket potato and salad.

I know what it is because I studied it in my degree. I don't remember all the implications but I remember the horrible smelling shakes, the need for supplements and the fact that there is barely anything a sufferer could eat without going over the restricted protein allowance. It really is a difficult condition and the people I met that had it, also seemed to have complicated mental health issues caused by their illness. That said, it is very rare and I don't think it's reasonable to expect a lay person to remember it. That said medical professionals should know.

I didn’t know what it was - I’ve just googled it.

My son was born with a positive from one of the conditions on the heel prick test - CH. Nobody knows what is, and I have only come across one GP who knew someone with it.

It was a year before I was to meet another parent with a child with it, facilitated by the hospital . (We are few and far between in the endocrine clinic). Neither my midwife or health visitor knew what it was; both googled it before visiting me and were pretty unhelpful as they were quite distraught. I had sworn blind my baby was sleeping too much; and from that moment on I never allowed anyone to fob me off again with something instinctive.

I didn’t give much thought to the heel prick test. In Ireland you’re told you’ll only hear back if there is a positive. In the uk (where my CH baby was born) you get results regardless I believe. I only recognised cystic fibrosis and sickle cell anaemia from the list. But not sure I think that’s weird, I think that’s normal enough to not know about these things.

Heel prick test is something I’m so grateful for; without it my son would now be living with an intellectual disability only for it being caught at birth.

I've had three children and had to google it. I just agreed to anything though and never went to antinatal classes.

I barely knew my own name at the time of the heel prick with DS1. I was knackered and post CS
I know what PKU is but if the baby doesn’t have it then why do people need to ask?

This ^ Well, I didn't have a CS with any of mine, but, quite frankly anyone could have come along and asked for blood samples to test for anything. As long as they came back all clear, why on earth would I retain the information 20 odd years later ?

Another poster suggested that only 1 in 10 000 people have it - again, do you realise how rare that is, in terms of people that it doesn't affect being aware of it ? A condition that makes you 'present differently' (be that a physical need or a facial type or something else) is going to be noticeable to people as they meet you or pass by, but, even if any of us had met someone with PKU, if we wouldn't know to look at you, then the likelihood of people being aware of it becomes vanishingly rare.

Do you know how many syndromes and medical conditions exist OP ? I would expect a GP to be professionally curious and enough of a detective to look up the symptoms and find out about a rare condition, not necessarily memorise them.

I know what it is as a friend’s daughter has it . I also knew what
it was when my sons were tested 24 / 22 years ago because I am one of those people who has to understand and questions everything until I do understand!

I know what it is as I teach about it on A level psychology when we're looking at genotypes and phenotypes.

I don't retain every bit of information I'm ever told.

But it is surprising that doctors don't know what it is...

@Junobug the amount of protein you can eat is dependent upon the severity of the condition. If you can only have 4 grams of protein a day, a jacket potato is out of the question. All food must be carefully weighed out and measured to ensure accuracy. When I was pregnant I could not have any protein at all and was restricted to only prescription foods.

I know, my niece has it.