Phenylketonuria ? PKU ?

I've been wanting to post this blog post for quite a while, explaining what is Phenylketonuria, because it's definitely a part o...

I've been wanting to post this blog post for quite a while, explaining what is Phenylketonuria, because it's definitely a part of me and a part of my lifestyle.

As you may know or not, a week after my birth I was diagnosed with a disease called Phenylketonuria(PKU). Its basically a rare inherited disorder that causes amino acid called Phenylalanine build up in my body. This build up of Phenylalanine is due to PKU which is caused by a defect in the gene that helps create an enzyme that is needed to break down the amino acids. This build up forms when eating food that contain high amounts of protein.The build is also very dangerous, it may damage the brain which would be loss of memory, bad concetration, agressive behavior etc. which may lead to mental retardation. To prevent this  I, everyone with this disease is meant to follow a strict diet that limits phenylalanine for the rest of their lives to maintain a healthy lifestyle.
Also to maintain ourself healthy there are other priorities that are meant to be strictly followed.
We obviously must be lead by a doctor that specialises himself in rare diseases in order to  correctly develop our brain and body. Not only do we have to follow a diet but also drink a prescribed   medicine 3-5 times a day to substitute protein in our body. We have to take blood once a month (At least I do) and deliver it to the hosipital/laboratory in order to keep a track of our phenylalanine in our body and do consulting visits with the doctor once a year.

This all may seem like a complete torture of life, but actually its way better then it seems. Once you get used to all these things you dont mind it. At least since I've been attached with this disease for 14 years, every year I grow older and feel more comfortable with it. I have for sure accepted myself with this disease because I guess that is just the way its meant to be and I'm glad that due to my doctors I function like a normal human being because there are children with PKU and other disease that are in worst condition than me.
(For my next blog post Im keen to write in depths about the low-phenylalanine diet:) )

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