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AIBU?

Share your dilemmas and get honest opinions from other Mumsnetters.

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Original poster

To wonder why more people don’t know about this

147 replies

Armadilloboss · 02/01/2020 21:22

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 posts:

twoheaped · 02/01/2020 22:54

I know what it is because a girl in dd's class had it. She always used to bring her own bread to birthday parties.

Idontkowmyname · 02/01/2020 22:55

It’s something ingrained in my mind from a school textbook. Can still quote the text verbatim. Must be frustrating having to constantly explain things to people

Original poster

Armadilloboss · 02/01/2020 22:56

@YippeeKayakOtherBuckets no you have it for life. It was only discovered in 1969, and the advice used to be that people could come off diet in the teenage years, but that led to a lot of issues with mental health so they changed the advice and it is now diet for life

OP posts:

PegasusReturns · 02/01/2020 22:56

I know what it is and have some experience with those who have it - it’s really really tough.

beaverbill · 02/01/2020 23:00

I know but only because my friend has 2 children with it. I’d never heard about it before then

YippeeKayakOtherBuckets · 02/01/2020 23:02

I had no idea. I’ve just read up on it (and Kuvan) and I’m amazed more isn’t done for you.

YippeeKayakOtherBuckets · 02/01/2020 23:04

Do you at least get free prescriptions?

One of my bipolar meds is also an epilepsy med and if I had epilepsy I would get free prescriptions for it but because I don’t I, um, don’t. The NHS has a bit of a lottery of ‘worthy’ illnesses.

Branleuse · 02/01/2020 23:04

I thought it was to do with aspartame, interesting to know its about protien.

anothernamejeeves · 02/01/2020 23:05

The reason it needs to be tested for from birth is because meds/special diet can be commenced to prevent brain damage

ExhaustedGrinch · 02/01/2020 23:07

I know what it is and how restrictive it can be as a friends little boy has it. If it wasn't for her son I doubt I would know what it is though. I don't think it's unreasonable for people not to know what it is.

HappydaysArehere · 02/01/2020 23:07

I am sorry you have this condition.
However, if you explained what it is there would be more awareness which is what you want.

Original poster

Armadilloboss · 02/01/2020 23:12

@HappydaysArehere I have explained earlier in the thread

OP posts:

OoohTheStatsDontLie · 02/01/2020 23:12

YANBU to be annoyed that health professionals who should know about your condition, don't.

But as far as the heel prick test goes...in the first few days and weeks you are given so much information and trying to process that as well as dealing with a newborn and recovering from the birth is a lot! There are questions on vitamin K injections, leaflets about safe sleeping, booklets about breastfeeding, information on common illnesses and when to call a doctor, health visitors, blood tests for mum if you've been anaemic, getting stitches checked, appointments to check babys hearing, clicky hips, weight, feeding, booklets on immunisation, and the heel prick test. I scanned the heel prick test but I doubt im alone in giving permission for the test and then forgetting about it, and not looking in any depth what the conditions involve.

However I am sorry for the things you have to deal with relating to your condition and agree more awareness could only be a good thing

Mrsmadevans · 02/01/2020 23:14

I know about PKU because l have nursed young adults 40 yrs ago who were sadly left with brain damage from not being diagnosed early enough.

Fere · 02/01/2020 23:16

I learned about PKU during my secondary school biology lessons and my nephew has that condition. I used to buy him a special type of chocolate abroad.

greenlobster · 02/01/2020 23:20

The most frustrating thing for pku is that there is a drug available that would remove the need for the diet and allow people to live normally. It is available in the us and Europe and even turkey but the government in the UK won’t find it here

I've heard of that, it's shocking that they won't fund it here when it would make so much difference to people's lives.
My dd was involved in a clinical trial for a cure for her condition a few years ago (unfortunately unsuccessful) and the thought of possibly being able to ditch the diet was just staggering, it would be so life-altering. It must be seriously frustrating for you to know that there actually is something out there but not to have access to it. I hope that changes in the future.

ursuslemonade · 02/01/2020 23:23

Op I'm shocked and disgusted to read that there is a drug to help.
Do you think a petition would help or make any difference?
Frankly it's a fucking disgrace.

Redshoeblueshoe · 02/01/2020 23:24

If it was only diagnosed in 1969 then I think that some people have worked very hard to get things were they are today. In the early 80's I worked with a person who had PKU and he would have been born before 1969, life was extremely difficult for them and their family. But even in by the mid 80's babies were being tested.

Livelovebehappy · 02/01/2020 23:27

I know what it is, but YABU to expect lots of people to be aware of the condition. There are lots of medical conditions and unless you or someone you know has been affected, it’s pretty normal for people to not know everything. Unless of course you’re in the medical profession. Just take it as an opportunity to educate people on it if they don’t know what it is.

Original poster

Armadilloboss · 02/01/2020 23:28

@ursuslemonade they have tried a petition, but so few people are aware of the condition that it didn’t really go anywhere.
It has been debated in parliament but they still will not fund the drug.
@YippeeKayakOtherBuckets nope- no free prescriptions and I have around 60-70 a month. Thank god for pre pay prescriptions, as otherwise I simply couldn’t afford to stay on my meds.

OP posts:

LilQueenie · 02/01/2020 23:31

I know what it is. learned about it mid nineties in standard grade biology.

ursuslemonade · 02/01/2020 23:38

I'm speechless....Hope things will change.

81Byerley · 02/01/2020 23:40

Phenylketonuria? Can't digest proteins? But my babies were born in the 70s, so I may have mis-remembered.

BigGlasses · 02/01/2020 23:48

I know what it is, partly from undergraduate biochemistry. But mostly from a chance meeting with a mum in SCBU when I was in with my 2 boys. I’m ashamed to admit I was too focused on my own boys, but she was really kind and I think of her a lot due to her kind words at a difficult time for me. She was In for testing for her second child as her first had PKU. I never found out the results, I hope it works out ok for her and her kids

Emmelina · 02/01/2020 23:53

I remember looking it up when my firstborn was heel pricked. She didn’t have it, and immediately it went out of my head as no longer relevant. Others were also clear, so...
it’s incredibly rare, isn’t it? Why would the average person know all about it?

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