I have PKU. I've never eaten meat, eggs, milk, cheese because it will give me irreversible brain damage. AMA!

Are you glad that you were stabbed in the foot shortly after being born?

I am incredibly glad, It was the best stabbing I have ever had! Why wouldn't I be glad?

How much does having this disease cost in the run of a year? with things like your prescription food, supplements, drugs, hospital visits etc? sounds like you've had a rough go man, keep fighting the good fight!

This is a question I love to answer, but one you might not want to hear answered. I am from Scotland and prescriptions (supplements, low protein food etc.) are FREE, hospital visits are FREE. The supplements are very expensive so I'm so glad I don't have to pay for them.

I get very annoyed when I hear other countries have to pay for these things, (countries that are supposedly better than Scotland!) especially with a condition like mine which requires a lot of prescriptions. Its insane.

Thanks for your concern but it really has not been too tough, I'm very used to it now, its certainly a conversation starter at least!

I'm glad you are wearing a Munster jersey

So am I Keith, So am I.

So what does a normal days meal plan look like for you?

I find it hard to stick to regular meal routine like most people and there is very little variety in what I eat. I get prescription foods that have no protein that help a lot so mostly for evening meal I have some form of pasta with a vegetable sauce. Lunch varies a lot. I can have 5g as I mentioned so I can eat some regular snacks like cereal bars. I make my own bread and use it for toast and sandwiches. I eat a lot of fruit and veg or soup. And breakfast is usually a small bit of cereal with fruit and a cereal bar.

I am interested in learning more about the bread you make yourself. What is it and how do you make it? Pictures?

There is a woman in England who experiments and came up with the recipe. She makes the flour and cook books and recipes for low protein loaves, bread rolls, cakes and so on.

You can see the recipes and pictures here

What kind of sandwiches do you eat?

(IE: what's between the bread?)

Salad, mayonaise, butter, onions tomatoes, that kind of thing.

Isn't there egg in mayonnaise?

Not enough for it to matter. But it does depend on the mayonnaise so I have to watch it.

Is it a genetic disorder? If you were to have children, is there a chance they'd have the same thing?

It is indeed a genetic disorder, my parents were both carriers for PKU, so my sister also has it, but I have another sister who does not. There is a chance my children could have it but I think it would be better for me to have a child with PKU than someone who doesn't know anything about it, even though my parents knew nothing about it and I turned out fine!

EDIT Thanks everyone for your concern about my children. Its quite far down the line so I'm not worried about it yet, I haven't given it much thought. But I would like to have a child with the person I love.

Though you having a child with PKU doesn't stop someone else from having a child with PKU...

What ethnicity do you belong to? Since afaik, there are CRAZY variables of frequency between ethnicities. Iirc Fins have one of the lowest rates of ocurrence, while middle-eastern (sorry for being vague) have among the highest.

Where I'm from, 1 in every 4,500 has PKU

"I turned out fine!" - That's still up for debate ;)

I am generally humble and hate to hear compliments but I have been told by my doctors that I am one of their easier patients as I deal very well with the diet. Some go off the diet which can cause a lot of problems.

Wow. Thank you so much for doing this. I am beside myself right now.

I have PKU and don't know much about it. I'm learning a lot from you. I have an incredibly mild form (so does my brother) and we were born to parents who didn't know a thing about it other than "Get them on the formula now!" As I was growing up, doctors told my parents that they would need to monitor our levels until our brains were more developed, so we got the finger stick every month until our mid- to late-teens. We've eaten what we've wanted ever since (I'm 30; my brother is 27).

We both have behavioral/emotional problems emcompassed by extreme anxiety and depression. This is something that runs in our family so I didn't think much of it until my psychologist encouraged me to look into PKU for any potential connections, since that's a solid foundation to start with, i.e. we KNOW I have that. I literally found information explaining that it was ONCE believed that a mild form of PKU could go untreated after a certain age (until a woman is trying to have children, of course), but now abandoning the diet has been linked with mental disorders, including anxiety and depression.

Meanwhile, my poor parents who wanted to do what was best for us raised us to focus on the amount of protein in a food. The phrase we always used was "Is that good for us?" "Good" for us were french fries, potato chips, non-milk-based candy, for example, in addition to actual healthy foods. So we were also fucked in terms of our grounding in good, healthy dietary habits.

So again.... I have a disorder I know almost nothing about, and you're teaching me so much. THANK YOU.

TL;DR: I have a mild form of PKU and OP is my hero.

I have been told unofficially that jus PKUers can eat pretty much anything like chips, coke, sweets whatever and stay healthy as long as we stick to the supplement.

I've been tested for anxiety and depression occasionally and they also test IQ to see how my diet is going. I have quite severe PKU so I don't want to risk what I have by going off the diet. Good luck out there!

Do you view food as a function, like it's just fuel? It seems like all the restrictions you have would take away some of the pleasure of eating. My mother had diabetes, and she definitely had a weird relationship with food due to being forced to eat when she didn't want to.

You've hit the nail on the head. I find it hard to comprehend a lot of the obsession with food, I've had to listen to a lot of conversations about "delicious" foods I can't have, with my friends, in restaurants etc. However my sister (who also has PKU) is obsessed with food, she bakes and cooks a lot and experiments in attempting to make foods with the ingredients she can eat, converting recipes from cook books, and she has considers being a chef/baker. I admire for it but can't really understand it. I feel for your mother, there are a lot of similarities, and at times cases it can be worse. I hope she's doing well.

What's different about your protein supplement and proteins found in foods?

Basically my supplement doesn't contain the amino acid, phenylalanine, but has all the other protein and vitamins that I need to live, thrive and survive. Its quite complicated and I don't have much interest in science so I'm not great on the detail.

Thanks for the reply. Also, what does it taste like?

It's meant to taste like berry, so its not too bad. Its very dense and strong and leaves my breath tasting horrible so I have to brush by teeth after it. Its better than what I used to take which was, larger and flavoured only by the mix of horrible ingredients. I dreaded taking it.

I will take a photo of it, and the process of making it if you want?

Awesome!

Here you go. Also I mix the powder with water, which I don't think comes out in the picture.

I see. I'm assuming the reason you have the DHA packet is because you can't eat fish?

Exactly.

Have you ever taken Phenex? If so, how does the taste compare?

I've never heard of that. I only remember taking Lophlex (what I currently take) and Aminogram. I also probably took some different ones as a baby. I have tasted other supplements like Cooler, Lophlex LQ, but I'm used to Lophlex, its like I'm immune to it's taste.

How about drinks? Coffee/tea/alcohol, any restrictions?

Good question. Coffee and tea are fine, but the milk and cream in things like lattes or most Starbucks coffees are a no-go. Diet drinks, like diet coke I also cannot have because of the sweetener aspartame. You will notice on the side of bottles and cans of these that it says "Contains a source of Phenylalanine" which is specifically for people like me.

For Alcohol, Cider, spirits and wine are all fine, but Lager and stouts (Guinness) and Ales all contain some protein so I couldn't have more than 1. Cream liqueur (Baileys) ale contains protein. Personally I drink Cider, with the rare beer, spirit or wine.

So you can't drink lager, stout, or ale because it will cause you brain damage. Meanwhile, everyone else is drinking lager, stout, and ale because it causes brain damage.

Good point! But I heard alcohol doesn't kill brain cells, it just stops new ones from developing. (I could be wrong, I'm no scientist.)

When you were born, how was the PKU discovered and diagnosed?

When you were born, and everyone was born, you were tested for multiple illnesses in the form of a heel prick. So you were tested for PKU also, and fortunately for you, you passed!

In terms of the discovery of PKU it is very long and complicated but it was originally detected from a smell in people's urine. I am grateful for all the doctors who discovered it as if they hadn't I wouldn't be able to live a normal life at all.

Weird coincidence, and maybe not that interesting, but here in the Netherlands the people in their last year of high school are getting ready for their exams. To practice for this, most schools use old exams. Just last week, I was making an old chemistry exam which happened to have a couple of questions dedicated to PKU and its discovery by Asbjørn Følling. Just a few days later and here I am, reading your AMA on the subject!

In Scotland in Biology they study PKU also, and one day all my friends cam out of the class amazed that my condition was in the text book. They were all like "Hey we studied you today!" When the teacher teaches about it now she uses my sister and I as examples of treated PKU.

What about vegetable proteins? Do the dietary restrictions limit your physical activity/ fitness? Can you even lift, bro?

I can indeed lift, bro. Treated PKU does not limit physical activity, in fact I know of a Women's Rugby Player for England Under 20s who has PKU. She takes more supplement than me, which is generally how it works, we get everything we need from the supplement, and if its not enough for the activity we're doing, they increase it.

Have you ever had a close call, or inadvertently eaten something you can't have, either accidentally or due to mislabeled ingredients?

It's not an allergy so something like that is pretty harmless. I generally stick to what I know though to avoid something like this happening too often.

How do people outside your immediate family (e.g. colleagues, friends, so on) react to your condition? Have they mostly been fine or do you get insensitive comments from people who don't understand?

I've never had anything bad, generally people are either quite interested or don't care at all and forget, and I don't mind either way. My friends joke about it with me and some people might see it as insensitive but I generally find it funny, I'm pretty open to any humour, I think everything should be joked about.

However I have heard of some people who have been bullied for it. One guy from Germany told me how in school people would tease him and wave sausages in his face because they knew he couldn't eat them.

What was it like at a young age with PKU? Has it gotten easier or harder over the years?

It has gotten easier, I am used to it now. When I was younger, like most people, I didn't want to stand out. Going on School trips was hard having to deal with food on my own, and being the weird one who had to eat strange food, with no one else who understood PKU. Going to parties and having to bring my own food to eat was also embarrassing. Getting older, and moving out means I have to cook everything. I can't order takeaways so it can be a chore to cook all the time, and I'm not very good at it, so my food can be quite bland. Overall its easier, I used to get quite upset about it, especially having to stick within the 5 grams of protein as I just wanted to eat normal food.

Say your doctors call you and tell you that youve been ridden of PKU, whats the first food you eat?

It's not something I like to consider because there is no point, and a lot of foods seem alien because I was told since I was born that there is no way I can have them. I would really just like to have more of the things I can already have. But pizza and bacon are popular with people so I suppose that would be cool to try.

Are you following the scientific discoveries in regards to PKU? I'm asking because I'm currently involved with gene therapy with the intent of curing PKU.

I can't say I'm following that closely but my mum and my sister are quite intent on looking up new developments, and every time I go to the clinic they keep me informed on things, and possible developments in the works. Thank you for your work!

How often do you get your phenylalanine levels tested? Currently, my masters research thesis is for alternative methods for traditional tests using only paper based devices that people can use at home (like the glucose strips that people use for diabetes,) but I'm curious how useful that will actually be for someone with PKU. If you do go get tested regularly, do you have to pay for these tests? Or are they covered by Scotland's amazing healthcare?

It was every two weeks up until I was 18 and now its roughly once a month. When I test, I prick my finger and let the blood drip onto two circles on a piece of car and it is sent away for testing which is of course, free.

What's your favorite color?

Red. Or green.

Or Blue?

Blue also. I like all colours.

what is your favorite food?

I don't really have a favourite food. Many of the things I like to eat, I can only eat in small amounts, e.g. Pringles.

However there are some things I can cook that I like, but they taste different from anything you'd eat. e.g Low Protein pancakes, lasagne or macaroni.

I also like garlic mushrooms.

My cousin who has PKU recently started taking an experimental drug that allows her to eat protein foods. The side effects caused her hair to fall out but she has most of her hair back. Would you take this drug?

Is it Kuvan? I haven't heard of hair falling out. In Scotland, where Im from, the don't provide Kuvan, but some people including my sister and mother are campaigning for the government to pay for it to be provided here. I'm not overly desperate to try it, I think its a lot of money that could be used better as my life is fine how it is. Shout out to your cousin! Hope she's doing well.

Have you adapted to life or is it a daily struggle?

I didn't really need to adapt because it is all I've ever known. It is defiantly not, it is one of the best metabolic disorders to get because I live such a normal life. When I go for check-ups there are people seeing the same doctors as me whose disorders can not be treated as mine can who have it much worse and are seriously brain damaged.

Does the label on the side of diet soda save your life daily, or were you already aware that you can't have it?

I am aware I can't have diet drinks but there are other drinks that contain it such as sports drinks like Lucozade, and some fruit drinks, so I have to check every new bottle, and occasionally recheck because ingredients can change.

Have you ever come scarily close to eating food with phenylalanine in it?

I probably have eaten or drank something with Phenylalanine in it, but I can tolerate a small bit. It's the gradual intake and build up of phenylalanine that can cause difficulties.

What do you think of people like me who voluntarily avoid meat, eggs, milk and cheese for ethical reasons?

Also are you able to eat foods with gelatine, honey, lard?

Gelatine; no, honey; yes, lard; I'm not sure but I think so.

I envy their ability to choose and dislike the way its meant to be so ethical. However I don't really care.

My Brother and Sister both have Pku! Have you heard of Kuvan? If you have, do you think you'd wanna start taking it?

I have but it's not provided in Scotland yet. I'm not desperate to get it because its very expensive and the money could be used better, but I probably will end up taking it down the line when it's more widely available. Good luck to your brother an sister!

I am a PKU mum of 4. I am from Newcastle in the UK. I have a recipe site and some of which are PKU friendly recipes with little to no PHE. There are also everyday recipes and ketogenic recipes.. Take a look! Also... did you know that there is a company called Promin in the UK that deliver fresh baked sliced bread on prescription direct to your door? https://www.facebook.com/pages/Whats-For-Dinner/580955552007243 https://www.facebook.com/promin.pku?fref=ts

I do use Promin foods, (the rice, specifically). Also home delivery never worked because we live in a flat and there were all sorts of problems.

Are there any similar disorders with the other amino acids? If not what makes Phe so unique?

The enzyme responsible for phenylalanines breakdown is defective due to faulty instructions from his genes. Thus the phenylalanine can build up and damage tissues because it cannot be processed. Can't remember off hand but I'm sure there are other amino acid related disorders.

What is the difficulty in designing an enzyme supplement or other sort of drug for breaking down phenylalanine? My lactose intolerant friends can take tactase supplements before drinking milk for example. Is the breakdown of phenylalanine super complicated or something?

I think they're working on an enzyme.

Do you consider yourself vegetarian/vegan? I guess you probably don't since you don't eat like one through choice, but I did wonder.

I really don't like to use the term vegetarian/vegan because it seems to have negative connotations, and some people think they are moral gods for doing this noble sacrifice, yet I don't even have the choice. Also I think there are things in my diet that I can't have that vegans/vegetarians can have and vice versa.

Does this also mean your mother had to avoid breast feeding you as a young baby? How do they feed young children with PKU?

We get special formula/milk at different stages of babyhood on prescription.

What forbidden food smells the best?

Pizza.

Oh man...I've read through a bunch of the questions and several repeats (the close calls and the build up), but I never thought about this. That's a staple across most of the developed world! My kids are vegetarian and you couldn't even eat theirs, let alone mine with various meats. Is pizza a common enough thing among your peers that this is a regular torture? Like, my kid's schools just randomly have pizza for after school events or a party in the classroom for whatever reason - have you had to deal with that much in Scotland? Speaking of school, did you always bring your own lunch?

Pizza is so popular particularly where I go to university, everybody buys pizza once a week and all the events give out pizza. It can be hard when people are constantly asking if you want any.

Yes I always brought my own lunch but most people do in Scotland.

So do you reckon Munster will get a home semi-final this year?

I hope so. Its been tough these last few years, nothing is going Munster's way. But we must keep the Faith. Stand up and Fight!

How can you be sure that when you eat out somewhere that you won't accidentally ingest protein?

I mean with dietary restrictions such as lactose intolerance, eating lactase just makes you sick. But with PKU, eating protein can cause permanent damage.

When I eat out I usually bring my own food or order something I am certain is safe. But even still it's not an allergy and eating a bit won't do a huge amount of harm.

How did your parents cope with managing your condition when you were a child, and how has that impact your relationship with them now?

My daughter spent some time in hospital shortly after she was born, part of that was next to a baby who had PKU. We spent some time talking with the parents - there isn't much to do in hospital when the baby is asleep. I've wondered about how they got on.

They were brilliant, they tried to give me the best they could such as trying out different recipies for meals and baking. There are conferences where my mother would go to learn how to cook the food I needed, and she would then teach me and my sister. They dealt really well. My father is a doctor but even he knew nothing about it because it is so rare. I'd say it's done nothing to harm the relationship, I love my parents and all they did for me, eve forcing me to drink my supplement.

I remember learning at school about this disease. Our teacher told us, that ppl who suffer from it emit a certain smell, Akin to mouse pee.

Is that true at all?

If untreated I think so. But pee doesn't smell great anyway so whats the harm.

Fellow Munster man here! How ya?

Sound boiiii!

My nephew has this. I know how horribly expensive the supplement can be in the US.

My question is, are you ever nervous about ordering a coke and getting a diet coke?? (Seeing as it has whatever evil sweetner that could give you horrible brain damage and/or death?)

How old are you? How did you manage to get through your teens, when kids are at their absolute worst and most evil?

How hyperative would you rate yourself? My nephew is a roiling ball of unstoppable and un0focusable energy. How do you use that energy?

Occasionally I worry because people used Coke and Diet Coke pretty interchangeably so most times I would check or specifically say coca cola.I am 18 and I've never had any problems with kids teasing me about it but I certainly worried that they would because its such a strange thing to have.

I also consider myself quite hyperactive at times, I don't know if its PKU or my personality. I do a lot of exercise and sport, like 5-a-side or squash, cycling, rugby, gym etc.

How is PKU diagnosed? I imagine early diagnoses is crucial.

A Heel prick at birth, everyone is tested.

Are there any natural protein sources you can eat? Personally I don't think I'd want my life to limited to receiving a protein supplement every day.

Also, does your health condition cause any other health effects? It looks like the body does something with the phenylalanine, and I'm curious what happens when someone can't eat it at all.

Im not really bothered if there are any natural protein sources to eat, its much easier, more convenient and cheaper to take the supplement which I am happy to take, the positives far out weigh any negatives, which I am certain there are little to none.

There are no other health effects if I stick to my treatment.

can you smoke medical marijuana,if it was perscribed to you?

I was expecting this...! I don't see any reason why it would be prescribed to me, yet so long as the protein content is low (maybe you can inform me!), I suppose I can, but its not something I'm particularly concerned with.

Did you ever eat something you weren't supposed to as a child? What happened

It's not really an allergy so overdoing the protein slightly doesn't have any effects, its a gradual build up of increased phenylalanine intake that can have serious effects.

Is aspartame your bane, or is it pretty easy to avoid?

It's clearly labelled so yes it is easy to avoid.

So your mom knew not to breastfeed?

Yes.

So.. No bacon? Can you consume poultry? Or would that fall under the same category?

NO bacon, meat, dairy, poultry, pizza anything with more than even a small bit of protein, which is more foods than you would think so things like bread I wouldn't eat.