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?

OP
It must be tough for you.

I've heard of it. I get you, I have a rare condition (1 in a million) that's autoimmune and doctors often ask why I have it
It's autoimmune, if I knew that, I would solve a LOT of people issues!

I don’t know what it is and I’m hoping somebody will tell me

I know what it is. Am quite interested in health though.

OP in my experience as a midwife, from my limited time in community, most parents don’t hugely ask/research regarding the heel prick test, as it’s just accepted as being what needs doing and parents just want to do the best for their baby- which usually involves accepting what trained professionals are offering.
Even those that ask, are usually happy to accept a simple explanation about it being a rare genetic condition that can be life threatening, but not life limiting if treated. For the vast majority of people that’s all they will ever need to know, so the information is not retained and people don’t appreciate the impact it has on those who have it.

@LayAllYourLoveOnMe it’s a metabolic condition people are born with that means there is an enzyme missing in the liver. The enzyme breaks down phenylalanine, which is an amino acid in protein. If the person does not follow a low protein restricted diet with supplements they can become brain damaged

I know what it is because a friend of dd in primary school has PKU. Her mum was happy that i did my research and made sure all food on playdates could be eaten by all the children.

Gosh that sounds very scary

I have been aware of a couple of people with it. I assumed everyone knew.

@Armadilloboss, I wasn't aware of that. My understanding was that it was dependent on age and that children had to be incredibly strict, but it could be relaxed slightly as an adult. But that must be wrong. I know that whilst trying to conceive and pregnant she was only on prescription food.

Know about it because ex colleague's son has it.

But yeah it doesn't seem commonly known about.

@Armadilloboss That must be so challenging. Out of interest, what is a normal days food intake for you?

I’m a midwife, I know, I’m surprised that you know midwives who don’t.

So if you have the heel prick as a baby as most people do how how does that help?

I remember reading about it when my kids had the heel prick, I don’t know much about it other than it requires a special diet.

I suppose it is a lot less well known about than things like allergies or coeliac disease but I don’t know how common or rare it is in comparison to those?

Must be very tough for you, OP! I personally have never heard of it (well, I maybe did when they did the heel pricks on my DC, but I am crap at retaining info which is what my previous comment was meant to say!)

Didn’t have a clue - sorry.

Generally speaking I think when the heal prick test is fine, if everything is clear, people don’t read up on what conditions their child doesn’t have, they’re just relieved it’s ok 🤷🏻‍♀️

Having read your posts though, it sounds awful - incredibly restrictive & completely joyless diet wise. I’m very sorry you have it.

If you were my friend I’d read up
in it properly & see what I could do to help make a social life accessible to you 🌷

When my son was born I asked about the conditions being tested for. The midwife fobbed me off and told me not to worry as all so rare in 18 years she never had a baby test positive!!. My baby tested positive for PKU. Rare or not she shouldn't have been so flippant.

I wouldn't expect people to know. MCAD is also tested for, I wouldn't have had a clue until my children had to be retested and now under metabolics for a similar disorder once this came back negative. I wouldn't expect general public to be aware, I have to explain their condition with their emergency plans and red cards to the hospital and liaise with metabolics to ensure the right treatment when admitted.

@Catkin8 it has to be very well planned out in advance. A typical breakfast would be a banana, a piece of prescription bread (has to be rehydrated in the microwave) with 200mls of prescription milk and 30 tablets.
Lunch tends to be prescription pasta with cherry tomatoes, olives and spring onions and some olive oil for calorie intake. Another 30 tablets.
Dinner will depend upon how many grams of protein I have left to use for the day but typically more prescription foods. I can have some broccoli but it has to be counted as it’s not ‘free’ to eat. I can also get prescription pizza bases so they come in handy. And another 25 tablets.
You see my frustration when a doctor won’t give me my prescriptions?

I know it is phenylketonuria (worked in NHS for years). I honestly do not remember my baby having heel pricked though, I suppose he did - maybe I was asleep but genuinely have no memory of it. Anyway he doesn't have PKU, we'd know by now as he's forty but maybe the test wasn't done when he was born.

Armadilloboss, has having PKU caused you any problems over the years apart from you having to adhere to strict diet?

Oh OP that sounds horrible for you to have to live with! I wasn’t aware of what it was until I googled (and I have an A in O’Level Biology 😉).

Personally I avoid aspartame (and other sweeteners) anyway as they give me “an upset tummy 💩” but what you are dealing with puts my minor problems in the shade.

I know but that's because a friend at school had it. I heard she has early onset dementia now so has had a tough time.

I know what it is, we got given a leaflet explaining it when the DCs were born.