PKU is not solved. That was a key theme at a PKU conference I attended in 2024. In this reflection I explore why PKU awareness still matters, highlighting global challenges in treatment access, mental health, and public misunderstanding.
PKU Awareness Remains Essential: Why this Rare Disease Still Needs Global Support
A century of progress.
That’s what we’ve seen in the PKU community.
PKU was discovered in the 1930’s. The initial treatment for it was developed in the 1950’s. And newborn screening for it began in the 1960’s. And since then, a generation has been changed.
The story of PKU is about humans changing history. If you have PKU, then people like you and me were once destined to have different outcomes.
But progress in medicine and humanitarianism changed everything for us. We have reasons to be thankful.
But here’s a difficult question—”Is it enough?”
It’s hard to ask that question without seeming ungrateful.
Clearly, discovering PKU mattered.
Developing treatment for it mattered.
And newborn screening programs certainly matter.
Others in the rare disease community might look at PKU and think, “What more do you need?” After all, we have a clearly defined diagnosis. We have treatments (both nutritional therapy and medications). And we have newborn screening for PKU that provides early intervention.
So, it might be natural for some to ask the question, “What more do you need?” But that assumes that PKU has been solved. Clearly, the need for PKU awareness is still high.
Last year I visited Porto, Portugal to attend the 2024 European Society for PKU and Allied Disorders Treated as Phenylketonuria Conference, or ESPKU2024 for short. On the first day, a researcher stated something obvious to everyone in the room, but something we must continually speak to those outside of the PKU community…
Dr. Francjan van Spronsen, a pediatrician specializing in metabolic disorders in the Netherlands, shared how he had been to a medical conference shortly before ESPKU. And people there didn’t understand why we have the need for PKU conferences. They assumed PKU was solved because we have a diagnosis, treatment, and newborn screening. And so he firmly said, “No, PKU is not solved.”
Much of what I share in this article is my current view of advocacy. My journey with PKU advocacy began in 2012, and over the years I’ve learned a lot. In June of 2025 appeared on the On One Condition podcast with Sylvain Berthelot and shared some of my thoughts on living with this rare disease and the importance of PKU awareness.
Why PKU Conferences Matter
Let me take a moment to share why conferences like this are so important.
First of all, any opportunity to gather with others in the PKU community is special to me. Many of us are connected on social media, but anytime we can gather together face-to-face… it’s priceless. I hung out with friends all week at ESPKU2024. A group of us gathered for lunch before the conference even began. And then, after the conference was over, another group of us spent the day walking through the city, talking about life, and ending the day at the beach.
There are life experiences that transcend advocacy. They are priceless. They are rare. But when they happen, they give new meaning to the entire experience.
And that’s what can happen at PKU events. Some choose to go to conferences, and others choose to go to camps, and all experiences are valid because we are a diverse community.
But a gentle reminder—there are some people in this world who are so desperate for information and experiences about PKU that they will go to any PKU event, formal or informal, conference or camp. And even here in the United States, some do not have the means to travel to either conferences or camps.
We provide as much diverse experience as possible to reach as many people as possible, do everything we can to provide equal and equitable access to whatever one needs to live a healthy life, and help them feel included in this global PKU community.
Why Raising PKU Awareness is Still Important
We have a diagnosis because of newborn screening. We have treatment.
Yes, that is true.
But the newborn screening system isn’t perfect. Some slip through the cracks, and others don’t receive screening at all. Only 30 percent of babies born in the world receive any form of newborn screening at all (source: Association of Public Health Laboratories).
And PKU treatment is hard. Treatment for many is nutritional therapy. And all you need to do to realize how difficult it can be is to hang out at a PKU conference and listen to the many, many conversations that take place. Also, newer treatments that work for some aren’t available or effective for all.
But let’s dig deeper and understand why raising PKU awareness is still important.
I tried to attend as many sessions at ESPKU2024 as possible, and didn’t retain as much as I had hoped. I was fighting some serious jetlag. But there were a few discussions that stood out.
PKU and Women’s Health
First, there was a session on a holistic approach to women’s health and PKU. It was not just about Maternal PKU, but about health issues for women at all stages of life. As a man, any words I could say about how important this is would just seem performative. I can only say that my friends at the conference whom I spoke with afterwards felt, as women, that the session brought up sensitive topics that are typically ignored.
Also, I should note that even the discussion of Maternal PKU was different than what I’d heard before. Maternal PKU is typically discussed in terms of the health of the baby, but not the mother. And this session also emphasized the health of the mother.
PKU and Physical Activity
This wasn’t just one session. It was a subject that kept coming up over and over in private conversation. And that’s largely because many of us adults with PKU are highly interested in the work that Annie Skidmore is doing in this field.
If you’re on Instagram and you’re involved in the PKU community, you’ve likely seen Annie’s posts. She has PKU, and she’s pursuing her PhD in PKU and physical activity. And she gave this talk on her studies so far.
Some people with PKU seem to struggle with physical activity. Others don’t. Why is this? Is it directly related to PKU? I suspect it is, but that’s just a personal opinion based on conversations with others and my personal experience. Annie is researching this properly. Be sure to follow her on Instagram to keep track of her work.
Bullying
At one point during the conference, I was standing near the coffee area (because of course I was), chatting with a group of friends about the session we had just attended. I told them about my first PKU speech.
I was in middle school, and I was nervous. And I gave my best understanding of PKU at the time. At the end, someone asked me what would have happened to me if I hadn’t been diagnosed with PKU at birth.
I answered honestly. I said, “Then I would have been institutionalized for life.”
The classroom burst into laughter.
Yes, that experience has followed me for life. I didn’t speak about PKU again openly for another 15 years.
That’s what bullying does to a person. It makes them withdraw because of shame.
I have no tolerance for bullies anymore. I am an easygoing person, and try to get along with everyone. I no longer care if someone bullies or slanders me. But go after someone I care about or anyone who can’t defend themselves, and we’re gonna have a problem.
OK, let me turn down the heat here a bit. This topic really gets me worked up.
That’s why I thought it was amazing that bullying was addressed at the conference.
Note that I’m not giving you a point-by-point rundown of each topic. I’m just trying to get you to think about areas we don’t always talk about with PKU treatment.
Side note, I told this story about my first PKU speech in an episode of my podcast. If you or your child are struggling with shame, please take a listen.
PKU Adult Issues
Here’s another topic that I am passionate about.
But first off, let me clearly state… I am not criticizing the amazing work done by so many in our community. We are where we are today because of so many community heroes. We stand on the shoulders of legends, people who have dedicated their lives to PKU research, treatment, and advocacy.
But part of pushing things forward is considering where we are. And, in both private conversations and in public meetings, in my experience PKU adults have many concerns.
For many, it’s the mental health side of living with PKU—both the results of the biological reality of having PKU and its affect on our cognition and emotional regulation, but also the daily impact of managing the treatment for this rare disease.
There’s the anxiety of always having to fight for access to whatever treatments might be available.
Just because a treatment for PKU exists doesn’t mean it’s accessible.
And I need my friends in the broader rare disease community to hear me on this. Dr. van Spronsen, whom I mentioned at the beginning of this article, noted that many medical professionals, even those working in the field of inborn errors of metabolism, questioned why PKU still needs attention when we have treatment.
But again, just because a treatment exists doesn’t mean it’s accessible. And even when it is, people misunderstand how hard the PKU lifestyle is. It might be easier for those who have a higher tolerance. But for many, despite their PHE tolerance, daily management of PKU is hard. Very hard.
If you’re someone for whom it is easy, consider yourself fortunate. And do something to help those who struggle.
Some adults with PKU feel invisible, especially those older adults with PKU who were our pioneers—the first who were put on treatment after newborn screening began. The struggles of that generation differ from my own, and those younger than me. But that first generation deserves just as much care and attention. And they often feel ignored—or afraid—because no one really knows what aging with PKU looks like.
There are countless perspectives because we all look at life a bit differently. But when we come together and express our viewpoints and opinions, our entire community is the better for it.
We’re all just trying to figure this PKU thing out. And I’m a big believer in doing that together as a community. When we adults with PKU gather at any event, we are drawn to each other. We just instinctively understand the person across from us, no matter how different our backgrounds. There may be much that is unique to our lives and backgrounds, but there’s this one shared experience that causes us to say, “I totally get you.”
Support for adults with PKU begins with listening, and includes not just implementing ideas but putting adults with PKU in decision-making roles so they can help implement them. Despite the challenges we face in life, we are thriving. Because that’s what we do.
Humans encounter obstacles and figure out a way around them. And if all else fails, we just destroy them.
Mental Health
PKU affects every aspect of our lives. The biological aspects of PKU are important, and how high PHE levels affect us medically. But the psychological impact of PKU—how it affects our mental health—cannot be overstated.
It’s not just about the social isolation of living with a rare disease. It’s also about how everything we deal with in life has an impact on our ability to cope with PKU.
That’s what I explored on Never Give Up: A Rare Disease Podcast. And a quick word about that for those of you who followed the show.
I’m moving on.
I did what I could to share stories about the intersection of rare disease life and mental health. But over time, producing the show had a detrimental effect on my mental health.
Initially, I tried to write a paragraph here explaining that decision. But I don’t need to. I shared a lot with you on the show. But I’m keeping this to myself.
And I’m moving on.
We talked about mental health a lot at the ESPKU conference. And even though I’m done telling stories about that, it’s going to remain a top concern of mine. I will continue to share on social media about it from time to time.
Because these are conversations that are not going anywhere. It’s something we’re all talking about in private conversations in our community, no matter where we live in the world.
PKU Awareness Matters
These are just some of the issues affecting the PKU community. This was not a comprehensive analysis of all subjects discussed at that particular conference. Nor is it even an exhaustive look at the specific topics I discussed. These are just some reflections on what stood out to me. And since I’m posting this article long after the conference finished, obviously I’ve had plenty of time to reflect on these issues.
ESPKU has since published a paper on this very topic. To dig deeper into this issue, I recommend you read Unmet Medical Need in Phenylketonuria.
PKU is not solved. To suggest otherwise is a serious misunderstanding of what the PKU community lives with.
I’m thankful that Dr van Spronsen clearly and forcefully pushed back on that idea expressed to him at another conference.
PKU may have a treatment. But for the individual who can’t access it or has difficulty following it, it’s as if no treatment exists for them.
Advocacy is about fighting for everyone. But it’s also about fighting for the individual person.
And people are hurting.
So our work isn’t done.
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