IamA 17 year old male living with phenylketonuria (PKU): A rare genetic disease that would leave me brain dead if I didn't follow a strict low protein diet. AMA!
My short bio: Phenylketonuria is a genetic metabolic disorder that affects about one in every ten to twenty thousand Caucasians and Asians. I have stuck to a very low protein diet since being diagnosed at 5 days old and am healthier than most of my peers today. PKU is a pretty rare disorder, and I get a lot of questions about it, so I thought I'd answer any questions you may have about it whether you have or have not heard of it before.
My Proof: http://imgur.com/bMXRH7d That bottle in the photo is my prescription. The label reads, "MEDICAL FOOD PRODUCT For the dietary management of phenylketonuria (PKU) DISPENSED BY PRESCRIPTION"
Edit: Thanks for all the questions, I'm really enjoying getting to answer you guys! I'm just going to have to take a break real quick, I'll check back later.
Edit 2: Damn! Front page! Thanks for all the questions, some are really interesting and I'm glad to spread my knowledge. I'm trying to get as many questions answered as I can, but with 1000 comments and climbing, that will be tough. I'll be here for a little while longer and I'll come back to this post every now and then to answer more questions.
Edit 3: To clear up a common question: No I do not lift, bro
Edit 4: WOW, reddit gold! Thank you, kind stranger!
No I have not. If I did, the effects would be irreversible. My body is missing an enzyme that breaks down phenylalanine, one of the essential amino acids in proteins. If I consume too much, it will store in my brain and become toxic. My IQ would drop to 0, I wouldn't be able to communicate or understand anything. Simply, I'd become mentally retarded. However, it's not overnight thing; it would take some time to accumulate.
Isn't it going to accumulate anyway, since you still get some protein? Or do you have some way of metabolizing a small amount?
The small amount I do get does get metabolized. Otherwise I wouldn't be eating at all. I get 20 to 22 grams a day and that's my limit
How did they found out about your disease?
I mean, surely when you were a baby, your mom used to give you milk, so something serious happened no?
It's actually one of the things they test for straight away using Guthrie Cards
The amazing thing to me is that there are people opposed to this testing. It saves lives, and harms none.
Wait there are people opposed to that??? dafuq??
It was diagnosed very early. I was 5 days old. It's a law that every new born is screened for it at birth
What sort of meals do you have through the day?
For breakfast I usually have a smoothie (without milk products of course) and I mix it with a powdered incomplete protein that is prescribed to me (I get that liquid in the picture, and a powder). This helps the smoothie gets its milkiness since the medicine is produced from whey proteins.
For lunch I either have an almond butter and jelly sandwich (almonds are fine because peanuts are just a little higher in protein... I have to go as low as I can) or a veggie wrap from QuickCheck if I'm out somewhere in town or at work. The sandwich is made with a special bread made from tapioca starch so it has almost no protein as opposed to normal bread. I order some specially made foods from a company called Cambrooke Foods ( http://www.cambrookefoods.com/ ). The company makes a long list of usually high or medium protein foods differently to make them accessible to people with my condition.
For dinner, I eat any random assortment of vegetables and sometimes a bowl of pasta (ordered from Cambrooke).
And then I snack on low protein foods throughout the day
On occasion I'll eat a scrambled egg for breakfast, but then I would have to keep everything else later in the day even lower in protein than usual. As long as I'm meeting the 20-22g each day and not exceeding it too far, I'm golden.
How does having such a low protein diet affect your you ability to gain muscle or muscle mass?
It definitely limits my ability, but I haven't tried working out enough yet to see how it will work. When I do go running, biking, weight lifting, etc. I drink my medication afterwards to get a decent amount of protein. What that is is simply a protein drink that had the amino acid that I can't consume removed (phenylalanine).
Have you ever been drunk?
No I have not. I do occasionally smoke marijuana, though. Why do you ask?
Probably because it's an AMA.
Thanks, I'm going to need that!
Dude if you got too stoned and ate a chicken breast or something because you got the munchies it sounds like that would bring a whole new level to the "your brain on drugs thing"
Well that was my thought going into my first time smoking weed. I can control myself though... I just can't get so high that I forget I have a condition like this! It puts a whole new meaning to "LET'S GET RETARDED!!"
What's something you get to indulge in and eat just like a regular person? Are there any foods with simply no phenylalanine in them that you can eat with everyone else?
I'm sure there's something like that, but none that are coming to mind. Everything does have phenylalanine in it, so it's hard to find a food that I can just gorge on. Oh wait, I just got it... Sorbet! It's ice cream, minus cream. Haagen dasz makes amazing sorbet!
Hi! Thanks for doing this AMA! My 15 year old brother has PKU. How often do you run into others with PKU?
I'm glad to see someone commenting who can relate! I only have run into other people with it twice and that is because of a program that helped my parents when I was young. There was a boy who lived (and still does) a town over form me and we hung out a few times when I was maybe 6 or 7 and he was 4 or 5. Do you know what kind of medical formula your brother uses?
My son uses Phenex.
I use Bettermilk and Restore from Cambrooke is Phenex the company name?
When/how did you or your parents fine out you had this condition? I assume you were much younger. What was it like growing up with a strict diet that was different than other kids'?
I was diagnosed at 5 days old. It is a law that everyone needs to be tested for this in a blood test at birth, so I'm very thankful to have been born in this time period! At first, it was confusing. I remember when I was maybe 4 years old thinking I would grow out of it and then my mom explained to me that it's a permanent thing. It was difficult explaining to other kids why I had to bring my own food to their parties because I was very young and still didn't fully understand it myself. When I say 'difficult,' I don't mean emotionally or anything. I mean that I actually was confused because it is a hard concept to grasp especially for someone of that age. Now that I've been living with it for 17 years, I understand it.
Since you tune to drop D, does that mean you're a Sabbath fan?
FUCK YEAH!! Saw Sabbath last year, in fact I have an Iron Maiden shirt on in the photo also, but it got covered by the paper
I knew a girl in elementary school who ate a hamburger and went from being completely normal to essentially brain dead... From one hamburger. I remember her dad took a lot of blame for allowing her to eat it. Would a mere hamburger cause you to go through a similar transformation or would you need more than that? EDIT: The girl was out of school for several months. When she came back she looked nothing like the bright faced girl I remembered. She was literally a vegetable. I didn't really see her in high school, but I believe by senior year she was able to convey basic emotions using a keyboard attached to her wheel chair. It was definitely something she ate, but the Internet doctors have me convinced it was not what the OP has.
I find this hard to believe that one burger did this to her
What are the chances of passing your condition on when you have kids?
Edit: good point, IF he decides to have kids
In order for my child to have it, their mother would need to have at least the recessive trait. It is a 1:10,000 to 1:20,000 chance
Isn't this condition also known as Maple Syrup Urine Disease? Does it really make your urine smell/look like Maple Syrup?
It doesn't look like it but the disease was actually discovered in 1934 when a doctor noticed some of his mentally retarded patients had an odd smell to their urine. After some tests, he discovered they had this disorder thus telling him why they were mentally retarded. Edit: sorry forgot to mention this: My urine smells different, but not like maple syrup
Hello! I am currently working on my master thesis in chemistry, where our project's aim is to find a chaperone to stabilize the PAH enzyme which is responsible for the symptoms of your disease. Before I started on the project, I had no knowledge of PKU at all, but after I started learning more of it, I was surprised to also find out how many people I actually know who is diagnosed with this illness.
How well is your local environment adapted to serve people with your illness? For example, if you are going to the shop, how easy is it to find food that is okay to eat by keturetics, or is this a knowledge you rather gather up by experience? I hear of some people who carry scales with them where ever they go, so that they can weigh their food before eating it - do you also practice this?
I do not carry a scale with me, no. Since I've been doing this for so many years, I've gotten to the point where I know how much protein is in the food I'm eating so I only occasionally have to measure portions. It is also very easy for me to find food that's okay for me to eat. I'm actually just about to leave to go to a restaurant that doesn't have much food on their menu for me, but they make exceptions all the time for anyone with dietary restrictions.
Does anyone else in your family have pku?
No, no one does. I have this disorder because both my parents carry the recessive trait.
Is there any type of research being done to find a cure for this disorder?
Yes there has been a lot of research done and it is still going on. There was a drug called Kuvan that was approved in 2008 that when taken in proper dosage, a patient of PKU could eat normal amounts of protein for certain amount of time. It is temporary, new, and VERY expensive so I would never try it. So that is a pretty big step towards a cure, so I have high hopes for the future of this disease.
How do you know how much protein is too much? Do you begin to feel ill or do you have to pre-calculate everything?
Because it takes time to accumulate, I can tell if my phenylalanine levels are a little high, but I can fix that by staying to even lower protein food until I feel normal. I can tell because I feel a little more tense and some other factor that's a little difficult to explain. If I do get to the point where it gets too way too high and gives me toxic effects, then there's no turning back. I will suffer permanent damage.
I have heard a lot of stories about inconsiderate friends, relatives, waiters, etc, that downplay or outright ignore warnings about food insensitivities, allergies or preferences:
- My boyfriend put lard in my vegetarian salad
- My boyfriend's mother deliberately puts pork into everything even though she knows it makes me sick
- My boyfriend gets mad at me when I refuse to eat dishes with dairy in them, even though I've explained I'm lactose intolerant
These people are complete jerks, of course.
Since the stakes are so much higher for you, have you ever had an issue like this? Or do you keep strict control of all your food preparation?
Can you safely eat out at restaurants?
Can you tell if something you're eating has too much protein in it, so you know to stop eating it?
Wow, what dickheads! And yeah I can safely eat out at restaurants. The waiters/waitresses get so confused, though, when I tell them of my condition. Also, I have never had an issue like that, fortunately. My friends and I joke about that kind of stuff all the time though. My friend gave me an oreo and after I ate it he asked "wait, can you eat that?" so I pretended to start seizing... Sounds horrible but I live by this quote: "Everything that's difficult, you should be able to laugh about." ~ Louis CK
How low is low? About how many grams?
20 to 22 grams a day It varies for different people though. Some people, unfortunately have a more severe case and can only consume even lower amounts than that (for comparison, the average person eats between 55 and 65 grams a day)
What sort of "junk food" can you eat?
Anything as long as it's lower in protein. I rarely ever eat one thing over 4 or 5 grams of protein so I can eat a variety of foods throughout the day. Junk food is something I eat sometimes as a snack, not with a meal (which I assume is the norm) so I'll stick to anything that's like 2 or 3 grams like pop tarts, most Hostess or Drake's products.
What is your reaction to the high-protein craze going on right now?
People thinking protein is "the most important" macronutrient and eating upwards of 200 g a day, saying lower protein won't provide you proper nutrition.
Interesting question. Ironically, my older sister is into that high protein craze haha But to all the people who say that low protein is not enough nutrients, I say, take a look at me! I'm pretty damn healthy. I eat almost all healthy foods ("almost" because who can resist the occasional ring ding or other shitty food) and all with low protein.
What is it about a low protein diet that keeps you from becoming brain dead? Thanks for answering
My body is missing an enzyme that breaks down phenylalanine, an amino acid in proteins. If i consume too much, it won't be broken down so it will store in my brain causing toxicity and blocking neuron paths. If too much stores in there, I will become mentally retarded
Hi ! Thanks for this AMA ! Here's my question :
Since you were so young when you started following this strict diet, and since you said in another answer that you were a bit confused about all of it, how did your parents manage to get the seriousness of the situation through your 5 year old self ? I can't imagine my 5 yo self going all "oh, so there's this amino acid I can't break down and that's gonna end up stored in my brain if I'm not careful. That's fine, I'll just be extra careful for the rest of my life !" Have you ever snuck to the kitchen to eat some of the forbidden food because you didn't know any better ? Were you very jealous of all the other kids who could always eat whatever they wanted without restriction ?
There were a few books made for little children with this disorder that my doctor gave me when I was younger and it explained it in metaphors like enzymes being workers breaking rocks (rocks being the amino acids). It said my body had workers that were too tired to work or something along those lines. My parents also did tell me straight forward what could happen and I never had a problem with it because I was confident that my parents would help me out enough to avoid the consequence. The biggest problem for parents with children that have PKU is if the kids sneak extra food. I never did this, but I know plenty of kids do it because they don't understand how dangerous it can be.
Because of this diet, do you have sensitivities to anything else, besides protein?
No I do not, thankfully!
Do you think that it affects you more or less as you get older? Do you have a pretty good handle on which foods are low protein enough for you to have or was it easier to have someone else (like parents) pick the meals out for you?
I feel that it affects me less as I get older because I become more experienced with it as time goes on. And yes, I have a very good handle on what foods I can eat. I cook most of my own meals because I love to cook (I'm Italian, it's in my blood!... Born and raised in America, but my heritage is Italian... didn't want to confuse anyone)
What is the one food or food related item you can't have that you wish you could try, or at least has you curious?
PS. One of my best friends growing up has PKU so I know pretty much everything about it haha. It's always interesting telling people about it who know nothing about it. Stay strong, I know you have to be incredibly strict and on top of everything you consume.
I actually have never thought "I wish I could eat that." It's more of "I wish I could eat more of that" if something is higher in protein
how do you know your daily limit? how was it determined?
My daily limit is 20 to 22 grams of protein. This is determined in a lab. I prick my finger and take a small blood sample every 3 months (just did it last Sunday, in fact) and send it to a lab. They check my phenylalanine levels in my blood. It has to stay within a certain margin. If it goes too high, I'll eat less. My parents and I sometimes joke about how funny it would be to throw off the doctors by sending in one of their blood samples haha!
Do you need tyrosine supplementation?
No I do not, but there is tyrosine in the medical formula i drink
What's your favorite song to play in Drop D?
Pull Harder On the Strings of Your Martyr by Trivium!
Have you ever accidentally consumed too much protein? If so did you become ill? How serious was it?
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