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PKU is short for Phenylketonuria, a rare genetic condition having to do with a body’s inability to break down protein. Specifically, the amino acid phenylalanine. Have you ever looked at a package of gum or candy and it has the warning *Beware Phenylketonurics- contains phenylalanine? That is referring to me…so you could say, I’m famous! ;p
Diagnosis at Newborn Stage
PKU is diagnosed at birth, thanks to newborn screening. If you have had a baby, you probably remember your child getting a heel prick blood test to check for a variety of rare conditions. They refer to this test as the “PKU test” because that is the most “common” on the test.
Once you receive a positive test result, you get referred to a metabolic specialist. From there, they start educating the new parents on all things PKU…diet, lifestyle, results, etc. New parents have a ton to learn, but with the help of their doctors and nutritionists, they catch on pretty quick!
Treatment is a strict low protein diet (kept track by blood tests), medical “formula” or milk (like a high protein powder without the phenylalanine), and medical foods (made low in protein specifically for PKU). The PKU diet is for life. While there is no cure as of yet, there are tons of promising ideas in the works!
Growing up with PKU is definitely a bit different. For starters, since my body doesn’t break down protein like it is supposed to, I have had to be on a very strict low protein diet. While this obviously excludes meat, eggs, and dairy, a ton of other food actually has protein. For example, a banana has roughly a gram of protein in it. For the normal person this doesn’t mean anything, but for a PKUer, this is a lot! I was able to have around six grams of protein a day. Yup, six. That is equivalent to one snickers bar a day.
It was definitely tricky at times, like when everyone at a party got to eat cake and ice cream, but I couldn’t. Or I got a different lunch, or treat at school. However, I think it taught me a lot about sticking up for myself and that being different is okay. This translates into all areas of life, and I feel like I am a stronger person because of it.
Fortunately, there have been many medical advances in my lifetime so far. About ten years ago now, I got started on a new drug (at the time) called Kuvan. This is basically a BH4 supplement, that can help someone with PKU break down more protein than they normally could. (It doesn’t work for every PKUer and results vary, only way to know is to do a trial.) It did work great for me! I now can eat twenty-four grams of protein a day!
While twenty-four grams doesn’t sound like ton, it is soooooooo much more than six grams! So I am super happy! I no longer have to pay for expensive low protein medical food, but still take my special, medical high protein shake to supplement.
Having a family is totally possible with PKU! It does take a ton of dedication though. While trying to conceive and pregnant, I had to keep track of absolutely everything I ate and drank. I took blood tests every week. And had extra doctor appointments with specialists. I now have two totally healthy girls, both non-PKU.
The future of PKU is promising! While there is no known cure, there are certainly quite a few people searching for ways to achieve one! There are also a lot of people dedicated to making PKU foods and protein supplements better and better tasting.
Whether you are just mildly curious, a new parent of a newborn diagnosed, a medical student, or a PKUer yourself, I welcome any and all questions! You can drop a comment below or email me directly if you would like more specific information.