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  • Writer's pictureSam Balenzano


May is PKU Awareness Month! Because we have a rare disease, awareness is more important than fundraising at this point. Although both are important, no one even knows what PKU is so if they don't know about it, how can they help?! So thank you for reading this blog! Share it with your friends and family and let's make PKU a not-so-unseen disease!

If you have kids, you will probably remember your newborn getting a blood test in their heel. If your baby was healthy, you might have a very vague memory of it, because the doctors had no reason to bring it up with you. Starting in 1964, all babies get a blood test done from their heel (called Newborn Screening) to check and see if the child has a metabolic disease. This could include any of the following: Phenylketonuria, Methylmalonic Acidemia, Maple Syrup Urine Disease, Tyrosinemia, Citrullinema, or Medium Chain Acyl CoA Dehydrogenase Deficiency. I can't speak for the other diseases, but I can tell you what happens when diagnosed with PKU!

At two weeks old, my parents were called into the hospital and were told I was diagnosed with PKU. They were told what to feed me, how much, what not to give me, how to deal with PKU once I'm a toddler, in elementary school, High School, College, a Young Adult, and then spent a week in the hospital trying to take in the information all at once. Now if you're thinking what I'm thinking, you're probably thinking "That's a lot to take in!" You're right! It was actually so overwhelming that they don't actually do it this way anymore. If your child is diagnosed with PKU, you are given instruction on how to take care of your new baby for the next week or couple weeks, then are instructed to come back in and get the next set of information. If you are a PKU mom or dad, feel free to comment on how the process was for you!

During that intimidating conversation, my parents asked the doctors, "Will she be able to walk or talk like every other kid? Will she be able to go to regular school? Play sports? Play music? Will she be able to have friends and independence and a job when she's older?" The doctor's replied to all these questions with only four words: "That's up to you." My brain development was in the hands of my parents who had never heard of the disease before this moment! The next few years were FULL of doctors appointments at least 3 or 4 times a month and if you know me, you could say that my parents did a great job taking care of me. How they did this, will be discussed in my future blogs!

I am so so grateful for my mum and dad for taking such great care of me. If they hadn't, I would be a totally different person than I am now, unable to reach my full potential and restricted by my own mind and body. Thank you for giving me the opportunity to be anything I want to be. I love you.

As I'm writing these blogs, if you have any questions, please feel free to contact me or write a comment! This blog is meant for awareness and I don't want to miss anything! If it feels like I'm not elaborating its because I'm trying to keep these blogs as easy to read as sipping a morning cup of coffee!

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