Living With Phenylketonuria

Medically Reviewed by Brunilda Nazario, MD on February 20, 2026

By Margaret-Hunter Wade, as told to Sarah Amandolare

 

I had a normal delivery. My baby, Stafford, made it very easy, very quick. We left the hospital on a Tuesday. That Friday, the pediatrician's office called and said we needed to go back for additional screening. Something had been out of scope on Stafford's newborn screening test. She told me a time and date and where to go. That was the first time I'd heard the word phenylketonuria (PKU). We went to the repeat screening and were told it would be five more days before we would hear back. 

I tried not to focus on it those five days, but it continued to weigh on my mind. I was fortunate to have some help when Stafford was a newborn. I took a nap on a Thursday afternoon and turned off all my devices. It's like my body knew that that would be my last peaceful sleep. I woke up to not just a voicemail from the pediatrician's office, but also the clinic that we had been referred to. It felt like the world had just fallen down from underneath me. 

We went to Charlottesville, Virginia, the next day for an appointment with the pediatric metabolic doctor and the nutritionist. We live in Roanoke, two hours away. That first appointment was so overwhelming, but also very reassuring. The people in the rare metabolic space are very good at sharing the long-term outcome of PKU. Because PKU can be caught early, if proper treatment is followed, the effects are significantly decreased. That's the hope in all of this. It's why newborn screening exists. It's why babies are able to, and should, immediately start treatment. 

Every pregnancy of two carriers for PKU has a one-in-four chance of passing it along. Spencer, our older son, had the same chance of having this as Stafford. I truly believe it was a blessing that it was our second child, that we at least were able to get through all the unknowns of your first child. PKU would have just been such an added complication. This limited our desire to have additional children, because with Stafford, we did not know that this was something we were potentially introducing to him. 

 

Each child with PKU is different. Their tolerance for phenylalanine (Phe) ranges vastly. Stafford was able to tolerate 6 grams of protein in the beginning, which was considered mild. You're still counting and measuring every morsel that goes into their mouth.

Not being able to eat what other people eat, or what he wants to eat, is without a doubt the hardest part for him. As he's gotten older, we have introduced medicine that has increased his daily intake of protein, which is a double-edged sword. It's wonderful that he gets more protein – we're up to about 23 grams a day – but he can't just consume at will. Now he knows that he likes the taste of real cheese, but he can't eat real cheese at every meal every day.

Our society is built around food as a culture. Socially, it is hard. We can't just go to any restaurant at any given time. We have to think through, "Do they offer things that Stafford can have? Have we left enough protein in his diet to be able to accommodate that?" There's nothing spontaneous in our life.

We have gotten to a place where Stafford's Phe levels are pretty consistent and he is very good about maintaining his protein intake. We do blood draws every three to four weeks, whereas when he was a baby, it was once a week. We go to our doctor twice a year. There is no clinic in Roanoke where we live, so we travel two hours for that. When we go, we see both his geneticist and the nutritionist. Like many patients with PKU, Stafford faces other health effects. He has extreme migraines. Anecdotally, if you dig into any PKU forum, headaches are way up there as a side effect. He sees a neurologist on the side for this issue.

Stafford plays travel soccer. That is his first true love, but he is incredibly active and I love that about him. He certainly doesn't let PKU get in the way of any of that. He ran cross-country for school. He plays basketball for school. He plays travel soccer, swims, plays golf and pickleball. There's not enough time for everything Stafford would like to do.

There are no days off with PKU. Every single morning, Stafford wakes up and sits down and takes 13 pills. Some are big and some are uncoated. He can't just run out the door and go to soccer practice. He has to wake up an hour earlier than everybody else, because he can't take his medicine on an empty stomach. He has to eat something, then he takes his medicine, then he has to drink his formula. That's before he can even start his day. He can't just say, "Oh, it's going to be a skip day," because his Phe levels will increase and he'll feel the effects of it.

He is on an individualized education program (IEP) with school, which outlines the accommodations that need to be made for him. Those, of course, have lifted as he's gotten older and been able to be more of an advocate for himself. But in the early years, knowing the IEP was in place for his teachers before school started was critical. They knew that Stafford could only eat what comes in his lunch box. But we also needed what he didn't eat to come home with him, so we could make accommodations at the end of the day for his intake needs.

There's such rigidity. I think what people miss, in telling the story of how great he's doing, is what he personally has to overcome every single day. We have managed – he in particular – to follow this very restrictive diet, to take his medicine, and have good habits in the long run. Just this past week, his soccer coach was saying, "You can really tell that Stafford is disciplined." I think he gets that on many accounts from managing his PKU. 

We felt it was really important to get ahead of the rumor mill and just own Stafford's diagnosis. We were open about it. We wanted to be sharing facts and never wanted people to think they couldn't ask us about it. We wanted Stafford to be embraced and accepted for the special person that he is. So we started an annual fundraiser called Stafford's Soldiers. It was, in the beginning, truly to raise awareness about PKU, because it is so rare. We have hosted it for 13 years now and have raised more than $82,000 to date for the National PKU Alliance and PKU research. 

That awareness was how we lifted ourselves up and our community with us. Our outlook from the beginning was, this is who Stafford is, and we will make it as easy as possible for anybody who wants to have him at a birthday party or slumber party or whatever it may be. We'll provide all the food. We'll provide all the instruction. It does not have to be a burden or a concern for you. And I think it's done just that. When he was little, his friends' moms had a special Stafford shelf in their pantry with foods that they knew were acceptable for him. That meant the world to us as a family.

The thing that I struggle with the most right now is being able to plan out and accommodate travel for him. Right now, most of our travel is based around his soccer. We know what hotels have refrigerators and microwaves in the room. We know what we can take with us. My other son and I went away for a night recently. We just got in the car and left, whereas with Stafford, we have to pack his food bag and make sure we have his medicine before we pull out of the driveway. We are on the cusp of the teenage years. What I'm focused on and worried about is that transition of care, and him having independence to make those decisions for himself.

There's also a burden of cost to this rare disease. I get really emotional thinking about what he's going to be responsible for, and it's not anything he asked for. He's going to be strapped with an unbelievable medical cost for the rest of his life. It's really overwhelming for me to think about. We're his parents, and we will continue to save and support him in every way that we can. But this is forever.

I believe strongly that it's diet for life. But diet for life can evolve, and we've already seen it evolve for him. And that is due to the National PKU Alliance truly leading the industry and the movement. And with that, there are rare disease drug companies introducing new drugs.

He's no different when it comes to his potential than anybody else. I want folks to know that and not discount him because he has PKU. But on the other hand, I don't want them to overlook the daily sacrifice and restriction that it brings. That was the challenge in the beginning, and that is still the challenge that I face today.

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