Before we get into this topic, I just wanted to highlight three reasons why I wanted to start this blog:
1. To bring awareness to the disease and give information to those who don't know about it through my own experiences with PKU
2. To comfort new moms, dads and family members of those who are newly diagnosed
3. To unite the PKU community and encourage those who are struggling
Like I said, don't be afraid to reach out to me with any questions you might have! I'm here to help!
Okay, here we go.
When I get asked what PKU is (which I do, ALL THE TIME). I find I always have a different answer. It depends on the setting; if I'm being rushed to order in a take-out food line, or if I'm sitting down meeting someone's family. It depends on the person, if it's a waiter I'll never see again, or if it's a new friend that I'm trying to invest in. My answer changes depending on where I am and who I'm talking to.
But here you are! Reading this post, sitting in a coffee shop on your phone, on your couch in your apartment, in your bed next to your cat, or wherever you like to read about diseases, and you're looking for the real meat of the issue! (That's a joke, because I can't eat meat.) So enough playing around, let's get to it!
Phenylketonuria (or PKU for short) actually made its way into the Merriam-Webster Dictionary as an inherited metabolic disorder caused by an enzyme deficiency resulting in accumulation of phenylalanine and its metabolites in the blood causing usually severe intellectual disability and seizures unless phenylalanine is restricted from the diet beginning at birth.
SO BASICALLY: My body is too slow when it comes to breaking down part of the protein that we consume, and if it doesn't get broken down, it builds up and can get to your blood stream, therefore causing brain damage. Everyone with PKU has different tolerances of phenylalanine or "phe". Some can have 60 grams of protein a day, others 30 grams, and some people have a very low tolerance and are actually classified as "Classic", as their monitoring and treatment has to be much more strict because they can only have 8-10 grams of protein a day. *FUN FACT*: I'm classic. Yipee.
Here are some FAQ's that usually follow this information in a conversation:
1. Wait, so you can't eat chocolate? Nope
2. Or meat? Nope
3. Or milk? Nope
4. Does that include fish? It certainly does.
5. What do you eat? A lot of potatoes, fruits, some vegetables and grains!
6. Where do you get your nutrients from? My medical formula!
7. Don't you like...need protein to live? Indeed you do my friend!
Okay I KNOW that was a lot of information. But don't worry, I'll probably cover a lot of your questions as time goes on. Please feel free to shoot me any questions you might have over social media and I would love to answer them in future blogs. If you have PKU, feel free to share your tolerance in the comments section to share the diversity between PKUers!
For now, here's a video that has information about PKU that I talked about and will talk about in future blogs. Buckle up Science nerds, it's a bit of a doozy!