Valerie's Patient Story: Phenylketonuria (PKU)

In this video, Valerie shares her lifelong journey living with phenylketonuria (PKU), a rare genetic condition she was diagnosed with shortly after birth in 1968. PKU prevents the body from producing an enzyme needed to break down phenylalanine, an amino acid found in most protein-containing foods. Without careful management, phenylalanine can build up in the brain and cause serious damage. For Valerie, treatment initially meant an extremely restrictive diet that eliminated nearly all protein—including meat, dairy, eggs, and even limited amounts of fruits and vegetables. As a child, everything she ate had to be weighed and measured, and she relied on a medical formula to receive essential nutrients, which she recalls was difficult to consume consistently.

Throughout adulthood, managing PKU has remained challenging, particularly when elevated phenylalanine levels affect her mood, focus, and anxiety. Currently off the strict diet, Valerie monitors her blood levels weekly to track phenylalanine in her system. She also describes the frustration of being denied certain treatment options by her insurance company despite her doctor’s recommendations, highlighting broader issues of access and misunderstanding around PKU care. Valerie encourages newly diagnosed individuals and parents to seek out support networks and connect with others on the same journey. Now becoming involved with the National PKU Alliance (NPKUA), she is committed to advocacy and giving back, while continuing to navigate her own experience living with PKU.

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Transcript: 

My name is Valerie, and I live north of Syracuse, New York. I was born in 1968, and I’m living with PKU. 

PKU is a genetic condition where you are missing an enzyme in your liver that helps break down protein, specifically phenylalanine. That particular protein is in almost everything that we eat. So we have to restrict how much phenylalanine we get; otherwise it builds up in the brain and can cause brain damage. 

I was diagnosed with phenylketonuria, or PKU, a week or two after I was born. I was put on diet fairly quickly, and diet at the time was the only treatment. 

It is so restrictive. You can’t have any protein—eggs, fish, milk, chicken, cheese—and then you also have to restrict your vegetables and your fruits. You have to weigh and measure everything. I remember as a child going out to McDonald’s, and I could have eight French fries. 

It is so difficult to stay on the diet, and because you’re missing a lot by restricting, you have to take formula as a supplement to make sure you’re getting all of the essential nutrients for your body. It came in baby formula cans. I kept it in a container in my fridge for my entire day, and I had to drink and drink and drink and drink this stuff. It was very difficult. 

I’ve been trying throughout my entire adult life to manage PKU, and it’s very hard when you’re also experiencing the side effects and aftereffects of having high phenylalanine levels. For me, I know that my mood is affected. I become very short-tempered. I’m not able to complete tasks. Everything’s just really muddled, and there’s a lot of anxiety.

Currently, I am off diet, and so I do take my blood levels on a weekly basis to understand how much phenylalanine is present in my system. I was not able to take a certain route for managing my levels because my insurance company told me I could not—not my doctors. The insurance company told me.

There’s misunderstanding that is preventing individuals from getting life‑changing treatment and medication, and it’s impeding care that doctors are prescribing.

So what I would tell people who are recently diagnosed with PKU, or parents of a child they have just found out has PKU, is: reach out. Find your support community. Utilize the resources and support that are out there. Find somebody that can share the journey with you.

I’m just starting to work with NPKUA. We do all kinds of support and advocacy work, and I’m really excited to try to give back as best I can while I’m still living the journey myself and still learning as I go.

My name is Valerie, and I’m living with PKU.