Born in the early 1980s, I was diagnosed with PKU, or Phenylketonuria (FEN-nil-KEE-toh-NOO-ree-ah), a genetically inherited disorder where the liver lacks an enzyme necessary for breaking down protein. The protein we eat is comprised of several amino acids and there is one amino acid in particular that my body cannot process: phenylalanine. Rather than convert phenylalanine (phe) into tyrosine, a building block known for helping to improve a person’s mood, the excess amino acid builds up and, overtime, can become harmful. Inherited by receiving two recessive genes, PKU is so rare that it only affects every 1 in 10,000 or 1 in 20,000 births, depending on where you look.
Fortunately, I was born during a time when newborn screening was mandatory and PKU was recognized as a condition that is treatable through the maintenance of a low-protein diet. For me, this meant not eating any meat, dairy products, NutraSweet or any other combination of foods that were known to be high in protein. Unfortunately, those who were diagnosed with PKU prior to any known treatment were oftentimes severely mentally handicapped.
I grew up in a suburb not far from Pittsburgh, Pa., and maintained a low-protein diet for much of my early childhood. With PKU being (at the time) a relatively new science, my doctors had given me the assumption that one day I could throw away the gram scale, never conduct another blood test and above all else, eat anything I wanted. That’s because at a very young age, I was told I could discontinue the low-protein diet when I was 10. When my tenth birthday rolled around, the target age had been pushed to 16. And before I knew it, the new (and current) recommendation for PKU patients was to remain on the low-protein diet for life.
As many PKU patients often do when they reach the teenage years, I started to become more relaxed in following my diet. During one of my regular doctor appointments, my PKU geneticist (who I assume was frustrated with my lack of control on the diet) said, “You’re either on the diet, or you are off.” I looked at my mother, searching for some sort of guidance, when she told me, “It’s up to you.” It was then that I decided that I would go “off-diet.” The condition; however, was that if at any point my grades started to fall or if I had trouble concentrating, then I must return to the restricted diet.
That was 18 years ago. While continuing to remain off-diet, I graduated high school, received my bachelor of arts cum laude, and am currently pursuing my master’s (current GPA 4.0) while working full-time as a communications specialist for a U.S. Department of Energy contractor. My personal life has turned out well too. I recently married a fantastically supportive husband and am looking forward to buying a home and starting a family of my own. Yet, it’s the last of these personal goals that has forced me to revisit my PKU roots: women who are diagnosed with PKU must return to the diet and stabilize their protein levels prior to conception.
I realize that today’s young PKU patients have always been told they need to be on diet for life. My journey from a restricted to liberalized diet (and back again) is a rather unique story in the PKU community and could probably help other PKU patients considering the same options. That said, PKU Parlor is the platform upon which I will tell my story as I become re-familiarized with PKU, try out new recipes, investigate new medical advancements and most of all, learn to reintegrate PKU into my daily way of life.
–NM
Disclaimer: I am not a medical doctor and the comments I post on PKU Parlor should not replace the recommendations of your geneticist or PKU dietitian. PKU has as many variations of severity and you should always consult with your personal doctor before making any changes to your low-protein diet.
