PKU.com Community Discussion Forum New to PKU.com Can Anyone Help? Reply To: Can Anyone Help?

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BreaMarie91
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boo1210, Hi my name’s Breann and I’m 15 and both me and my 8 year old sister (Erica) have PKU and like everything in life there are the ups and downs. For me atleast, PKU is just a part of my life and I just live with it. I guess a plus is that since I don’t eat meat and things high in protien I don’t gain alot of weight easily . Think of it this way, if you’ve never had sushi you won’t miss it, and I’ve never had alot of foods so I’ll never miss them. For me PKU isn’t really bad, all that is different in my life is I eat alittle different, but then again nobody in the world eats exactly the same things as another person anyway right ? Although when I was younger it did bug me alittle just because I wanted to be just like everyone else, but as of today I realize nobody is exactly the same. Also with having both my parents, grandparents, alot of aunts, uncles and cousins plus my 4 sisters and brother who don’t have PKU to support me it hasn’t been to hard.
If you need to know what PKU is I’ll put it as simple as I can(although it might not sound as simple). PKU is a genetic disorder where people have a missing or deficient enzyme that converts something in protien called phenlalanie (which is found in almost all foods) into tyrosine and since people with PKU are missing the enzyme their bodies send the phenlalanie (or phes) to the body instead of tyrosine.
PKU is relatively rare and I think it’s 1 out of every 15,000-20,000 babies have PKU. PKU is detected (in most occasions) thru a newborn screening that has been required in the USA since around 1961. The newborn screening is basically a heel poke and a few drops of blood. This newborn screening is also used to test for many other genetic disorders. To develop PKU both parents must be a “carrier” of the PKU gene, meaning they are just carrying the gene (it doesn’t mean they have PKU). If both parents are carriers then there is a 1/4 chance their child will have PKU and 1/2 chance their children will be carriers.
People with PKU have to be put on a low protien diet which means, for most pku people, no foods high in protein which means no meat, dairy, few grains ect. To get the nutrition that we are missing due to not eating meat and such we have to drink a special metabolic formula.Too much phes can build up in the blood stream and limit the blood flow and oxygen to the brain which can cause things like: tremors or shakes, headaches, irratablity, mood swings, vomitting, memory loss, behavior issues, lower IQ and if untreated for a long enough time a person can become mentally retarded. I know there are other things that can happen that I haven’t mentioned.
Also we have to do regularly blood tests to check the phe level in our bodies to be sure we don’t take in to much (that’s basically the only thing I don’t like about having PKU, just because I don’t like needles I know I’m a whimp). So basically if people with PKU follow this diet of low protein foods and drink their special formula they can live happy, healthy and normal lifes. Luckily for me and my sister we are living wonderful lives! I’m almost a straight A student and I am in one of the top classes at the local dance studio that I dance at.
If you want to know more you can go to the “About PKU” link at the top of this page or search either PKU or phenylketonuria on google or yahoo.
Anyone feel free to correct me if I got any of this info wrong, I’m 15 and still learning a new thing about my PKU everyday. I hope this helped alittle, if you have anymore questions feel free to email me at completeangel@ameritech.net or leave a message here. nBreanna

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