My name is Melissa and I was diagnosed with Classical PKU at 2 weeks old. My parents were so good at keeping my levels in range while I was growing up. My PKU doctor used to tell my parents I was their star patient and would use me as examples to parents with newborns diagnosed with PKU. I was bullied in elementary school for bringing my formula to school and having to eat low protein meals at lunch, but I didn’t let it bother me because I knew it was for my health. When I was about 12 years old, the company that made my formula changed the recipe but claimed it still tasted the same….yeah right! So around that age, drinking formula became a real struggle for me. Around that same time, Kuvan became available for trial. My doctor thought I would be a great candidate for the trial. I started the trial not knowing if I was receiving the placebo or the actual Kuvan. After a few weeks on the trial, my phe levels started to decrease dramatically! I was able to increase my daily phe intake from 365mg to around 500mg. After the trial was over, I was able to stay on Kuvan as it was FDA approved. My total phe increase went from 365mg of phe to 1,000mg of phe (or 20g of protein)!
In my teen years, my levels stayed pretty consistent but my formula intake was awful because I could not find one that I liked. Once I got into college, I started not taking my Kuvan, but continued to eat the same. Why? To this day I still have no idea. Gradually I started eating more and more protein, probably around double or triple what I was supposed to be eating. And my grades clearly showed it. I failed my first class ever. But I for some reason thought I was fine. This went on for about 3 years. My GPA was about a 2.0. I couldn’t focus in class or while studying, I was super tired all the time for no reason and I had brain fog. But I did not notice any of these symptoms until after. During these 3 years of being off diet I decided to switch PKU teams to a team a little closer, and though I didn’t know it at the time, more supportive. I told them what I ate on a regular basis and we did some labs, my first level in probably 3 years. My level was an 18. I was shocked. I worked so hard to get my levels back down. I found a formula that I loved, started taking Kuvan again and worked with my dietician to figure out how much phe I needed to be consuming and brought my next level down to a 6. I was ecstatic. Around this time my grades improved dramatically (4.0 my last year of college) and I met the man of my dreams. He encouraged me to stay on diet, prepared my formula and Kuvan for me every day and even cooked for me! He went with me to my PKU appointments so he could understand PKU more. Now we are married! I graduated college with a degree in accounting and have a great career!
My levels were between 2 and 4 for quite some time when I found out I was pregnant in September of 2017. Maternal PKU is hard. Not only do you have to worry about yourself, but you are now responsible for the growth of a child inside of you. High phe levels during pregnancy can cause birth defects and mental retardation. No pressure. As soon as I found out I was pregnant I sent in a blood level. I was super happy that my levels had been great before. Throughout my whole pregnancy I have sent a level in every week and they have ranged from 0.8-2.6. We are having a healthy baby boy on May 16th and couldn’t be more excited!
So I have some advice to parents with kiddos with PKU…Its going to be okay. My parents always tell me how freaked out they were when they received the call asking to bring me into the doctor. Reach out to other parents with PKU. You have so many resources that my parents did not! Enroll your kiddo in a PKU Camp! PKU Camp was my saving grace. Meet up with other kids with PKU to let your child know they are not alone in this! Make sure you like your PKU doctor. I now travel 4.5 hours one way and pass another clinic because I love my doctors so much! Having a support system that is actually supportive is a must in the PKU journey.
And lastly I have advice to teens with PKU. Don’t go off diet! I know PKU can suck but trust me as someone who has been both on and off diet in their lives….it’s not worth it! You will make bad choices, bad grades and brain fog is no fun! You might think you are okay while not on diet, but looking back you will know you were off.