PKU Life: “What the Heck is Phenylketonuria?”

Hello there!

Here we are, at the beginning of a new journey. This is the first of what I hope to be many articles documenting my personal experience as an adult with Phenylketonuria. But first, I realize some of you reading this might be thinking, “What the heck is Phenylketonuria?”

Phenylketonuria, or PKU, is a rare metabolic disorder caused by a faulty enzyme in the liver. Basically, my body cannot properly metabolize an amino acid in protein called Phenylalanine. The main treatment for PKU is lifelong adherence to a low-protein diet and daily consumption of a medical drink that has all the nutrients that I can’t metabolize from real food. So yeah, I’ve never had a steak. The consequences of undiagnosed PKU are severe developmental delays and lifelong institutionalization. But, thanks to newborn screening, those of us with PKU can be diagnosed, treated, and live normal, healthy lives.

But living with PKU is about much more than just the diet. It’s about struggling with being different. It’s about realizing there are things that are way beyond your control, and coming to terms with that. It’s about learning to be patient with people who don’t understand or care what PKU is, and how it affects your daily life.

PKU is just one of the many thousands of rare diseases. But there are things that all of us in the rare disease community share in common. My hope with this series of blogs is to share my thoughts about what it’s like to live with PKU, but in such a way that people affected by other rare diseases can relate to what I’m talking about.

I look forward to sharing my thoughts with you in the coming months. But for today I’d just like to share one of my video projects with you. Besides living with PKU, I’m a professional videographer. I host a website, PKULife.tv, where I post various PKU, newborn screening, and rare disease related videos. I’ve tried to introduce you to some basic information about PKU. But as a videographer I believe that showing is much more effective than telling.

This documentary short film is special to me. I produced it two years ago, and since that time I’ve become an active advocate for PKU, newborn screening, and rare diseases. I’ve met people all across the world, both online and in the “real” world. And I’ve had the unique opportunity to speak at conferences all over the US, as well as in Finland, Brazil, & Australia.

I hope this film, “My PKU Life”, helps you understand what it’s like to live with PKU.