Living with PKU: Jonathan’s Story

June 28, 2024

When reflecting on his childhood, Jonathan Springborn recalls feeling different than other kids from a young age.

“It started at home, where there were five kids, and two of us with PKU would have a separate dinner from the rest,” says Jonathan, who has a rare genetic condition called phenylketonuria (PKU) which prevents his body from breaking down an amino acid called phenylalanine (Phe) found in all foods with protein.

“We had to do a regular finger pricks to check our Phe levels and it was hard to understand why our siblings didn’t have to do that.”

This feeling extended outside the home as Jonathan grew older and went to school, played sports and often found himself in social situations involving food. He would find ways to hide his dietary restrictions and the fact he had to drink a special formula of amino acids.

“I felt self-conscious about being different from my peers, and that stayed with me into adulthood,” says Jonathan. “But that has all changed as the way I manage my PKU with my care providers has evolved.”

Jonathan and his physicians have kept up with the latest developments in care and came up with a plan to address his PKU that has helped enable him to thrive as he has entered his 50s. We recently met with Jonathan to learn more about his experience living with PKU and ask him about his hopes for the future.

Q: How would you characterize your PKU journey, starting from when you were a child?

The words that come to mind are limiting and isolating. I did have my younger sister who also has PKU, but we didn’t really know anyone else with PKU where we lived in Buffalo, New York. There weren’t many resources to help families navigate PKU, and there weren’t special low-protein versions of food like there are today. I was just sort of resigned to the fact that strictly sticking to my diet and drinking my formula was going to be a big part of my life. As I got older, I was always looking for ways to hide this side of myself whenever possible.

Q: Did you ever experience any of the cognitive challenges that can be associated with elevated Phe levels?

One thing I’ve learned is that everyone’s experience with PKU is different. I was really strict about my diet and fortunate to be able to function with higher Phe levels than some other people living with PKU. I did see my younger sister have these kinds of challenges, though. She had a period where she went off her diet and formula and was very irritable and tired – just not herself. Seeing that definitely scared me even more into sticking to my strict vegetarian diet.

Jonathan Springborn standing in his kitchen.

Jonathan, at home in his kitchen, relishes the opportunity to try new foods whenever he can.

Q: Managing diet is an important part of PKU care. When you have had the chance to try new foods, what have been some of your favorites?

Mac and cheese is maybe one of the best things ever invented. Cheese pizza, too. I bought a loaf of fresh sourdough bread to experiment with making different kinds of sandwiches. I had some amazing Thai food recently. Just learning about the different options available to me is very exciting.”

Q: What are your hopes for the future – both in terms of living with PKU yourself, and for the broader community?

Personally, I hope to become more active in the PKU community. I’m involved with the PKU Organization of Illinois, and I recently signed up to share my experience through an international PKU mentoring program. I’m willing to share my journey with whoever wants to listen to me. For the community, I hope there continues to be new options for people and that, more and more, the limitations of living with PKU can become a thing of the past.

Jonathan Springborn standing next to his husband, Keller, in a park.

Jonathan (left) and his husband, Keller.

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