As a community, we must talk about PKU and mental health. This article is a reflection on the burdens we carry as people affected by Phenylketonuria.
Confronting the Burdens We Carry: A Reflection on PKU and Mental Health
“This is a story about hope. Believing in hope, losing hope, and regaining hope.” I wrote that at the beginning of a story called “Regaining Hope: My Journey to Rare Disease Advocacy.” And it’s become a defining theme of this site.
I first began writing about PKU and mental health in the summer of 2022. Until then, I had spent so much of my time thinking about the medical realities of PKU life. So many of us in society were thinking about mental health in the immediate aftermath of the pandemic. We had been shut away and isolated for a long time. And we were all learning what it meant to be sociable again.
And I began to be consumed by an idea… This also came from “Regaining Hope”, which was the first time I shared my mental health story openly:
“When you’re living with any chronic or rare disorder, it can get overwhelming at times. But we also have things going on in our lives besides just our rare disease. How do we separate what is going on in our lives from the daily experience of the rare disease lifestyle? We can’t. And we need to start talking about how we deal with everything that is happening to us and how our rare disease is related to all of that.”
That’s what I’ve been exploring on this site from the beginning. And the more I speak with others in the community, I realize that I am not the only one thinking about all of this. Public discussions of mental health are still taboo. But many people reach out privately to chat about all of this.
The Burdens We Carry
I am having so many discussions about PKU and mental health these days. Seriously… It’s something many of us seem to be thinking about. I think we’re all better served if we confront this directly. So let’s break it down. What kinds of burdens are we carrying?
1. The Burden of PKU
First, there is the burden of PKU itself.
The biological reality of how it affects the body.
The effects of high PHE levels like fatigue, brain fog, and reduced executive functioning.
This has all been well-documented over the years. But this biological reality is not the only factor.
2. The Burden of Treatment
There is also the burden of treatment.
Let’s be real… The initial treatment of nutritional therapy for PKU can be tough to follow. It’s not as simple as “Just do it.” In fact, that’s not helpful at all.
There’s no one-size-fits-all approach. Life is different depending on what your PHE tolerance is.
And don’t forget about access to treatment. That’s a major problem across the world.
3. The Burden of Life
But there’s also the burdens of life itself.
We all have other things we are dealing with. Life happens to all of us. And when it does, we can struggle to cope with PKU. That can happen to anyone at any time.
Someone may be managing this PKU life well, and then something happens that changes everything. And suddenly, it’s a challenge to make it through the day.
I discussed these three factors in more detail in an article called “Owning Your Rare Disease Story.”
OK, but what do we do about this? How do we change things?
Sure, we can focus on systemic change. In fact, as a community we must.
But here’s the harsh truth… When someone is struggling just to make it through the day, systemic change is unthinkable.
You can’t focus on changing the world when you can barely see beyond your immediate circumstances.
This is why I choose to focus on incremental change. That’s the only way we change things in our personal lives.
We try to improve one step at a time. One day at a time.
And the way I practice that in advocacy is by helping one person at a time. I help the person in front of me, and move on to the next.
I encourage someone.
I send them a resource that might help.
I share what they are doing for the PKU community.
I try to lighten the load for someone else. When I do that, it makes things a bit easier for me to carry. Because I remember that I am not alone in this community. I am not the only one struggling with PKU life.
No one has it all together. Everyone goes through times when they struggle. Anyone can go through a long dark night of the soul. How do we deal with all of this? We just show up for each other.
I try to keep my mind focused on what matters most.
I don’t advocate for policy. I advocate for people.
The Burdens of PKU Advocacy
OK, so that’s all about the burdens of PKU life. But there’s another area that’s increasingly becoming a concern to me. And that’s the burdens of PKU advocacy.
We need to take better care of our PKU advocates.
When you are visible in the PKU community, people bring their burdens to you. I’ve had a lot of conversations recently with other advocates around the world, and we all feel the same way.
We don’t know how to respond sometimes, and it’s hard to know what to say.
It can be a heavy thing when you put yourself out there. You hear a lot of stories that are difficult to hear. People share their burdens, and tell you deeply personal things about their lives.
People share their stories about children who have died, from causes unrelated to rare disease life. They are just hurting, and need someone to speak to.
They share about babies who didn’t receive newborn screening. Some who suffer because of a delayed diagnosis. Some who have died.
Or they beg for help because they can’t get their medications, and don’t know what to do. They are desperate.
Some are terrified parents who don’t know what to feed their kids with a metabolic disorder.
Others share about how they are enduring war, and the memories of those they’ve lost.
I’ve even had someone reach out the morning she lost her spouse.
They pour their hearts out. Not just about PKU, but about life.
My friends, I’ve produced a lot of stories over the years during my advocacy journey. But there is no way I could ever share all the stories I’ve heard. There is so much pain. So much heartache. So much grief. So much trauma.
I first explored this topic of the burdens of advocacy in this story called “The Emotional Toll of Rare Disease Advocacy.”
But What Do We Do About This?
That’s reality. And it’s emotionally heavy. I get that. So let’s take a step back for a minute.
That’s what I have to do when someone reaches out to me and shares something heavy. I have to stop and gather myself. Recenter my mind. And then figure out how to move forward.
So… what do we do about this?
First, we have to face reality. We cannot do everything. So we must learn to say, “No.”
Second, we need to create opportunities and environments for support.
And finally, we need to take care of ourselves so we can support those we serve.
I explored this in more depth in an article called “Self-Care is Advocacy: Advice to Rare Disease Advocates.” But since I wrote that article, I’ve continued my reflections on all of this. I recognize that the advice above is generic. It’s abstract. So I kept thinking about my routine, analyzing my actions and considering the practical steps I take to manage my stress from advocacy.
This is what works for me. I’m not saying it’s the best option for you. You need to spend time experimenting to see what is right for you. It’s taken me many, many years to develop this process. And this process helps me reflect on what I’m doing so I can stay motivated to serve in the way that fits me.
Much of what I do in advocacy is emotionally intense work. And it’s often reactive. People reach out asking for help, I help them, and then I move on to the next person. But long after that encounter, sometimes people stick out in my mind. Emotions linger. And if I dwell on that too long (which happens), then it can have a detrimental effect on my mental health.
One thing that helps my mental health is keeping my mind sharp. I’ve played guitar for 30 years, and even when I don’t have time to learn songs I try to improvise for a few minutes each night. I dabble at piano. I experiment with music composition. Or I study music theory.
But also, I have other intellectual pursuits. I routinely read history, philosophy, biography, and theology.
There’s a process I developed years ago when I was in graduate school. My Master’s Degree is in Theological Studies, and my program included psychology. In non-academic terms, I studied counseling and how the brain works. I am not a mental health professional, but these studies certainly influenced my approach to advocacy. I am just trying to direct people to information that will help them, and I talk with people. A lot of people.
Any process of education or self-improvement involves three components: data collection, analysis, and synthesis.
Or simply put…
We gather information, we process it, and then we take action.
1. Gathering Information
Now, I know I’m getting a bit dry and academic here. But I’m doing this for a reason. I’m trying to show that you can slow down, think deeply, and act with intention. It’s important to be diligent about whatever you do.
I keep detailed records of everything. I save emails. I save speeches from years ago. Recently, I’ve been saving my social media analytics.
And I’ve been trying something new over the last few years. I save comments and messages that I want to remember. Not to share with people. Not to brag about my accomplishments. Not to increase my personal brand.
Advocacy is not about ego.
But we have to do things for ourselves to stay motivated. So I gather information and keep a file to remind myself of why I do what I do.
2. Processing Information
Gathering information isn’t enough, though. We have to slow down, and think.
And this is where I am increasingly critical of society. Social media, traditional media, general cultural attitudes… They all encourage us to remain reactive at all times.
“Stay on the app. Indefinitely.”
“Don’t think about the media you are consuming. Just do what you are told.”
“Don’t ask questions. Don’t think for yourself.”
That’s not sustainable. That’s self-destructive. And I refuse to live like that.
So I take time every single day to be still, quiet, and reflect on life. For me, early in the morning works best. But the time of day doesn’t matter. And the length of time doesn’t matter. I spend hours per day in this frame of mind, but that’s because my circumstances allow for that. What matters is that you just spend whatever time you can disconnected from things around you and the stresses of the day. I do this first thing in the morning because it motivates me for the rest of the day.
And central to my approach is keeping a daily journal. I’ve been doing that for over 20 years. At this point, I probably have over a hundred journals. I stopped counting a few years ago. At times, this journal has served different purposes. I read voraciously, and reflect on what I’ve learned. I record quotes that motivate me. Or challenge me. I write about what’s going on in my life. I write rough drafts of what I share here. I write some things that I’ll never share.
And, to be honest, I write about my frustrations and sources of conflict in the community. Let’s be real, and not naive… Any community is just a gathering of people. And any time you get people together, there will be conflict. I choose to keep my frustrations private. I don’t gossip. I don’t spread conflict. I deal with it internally. I talk with my friends. I keep it private. But I document everything.
You can’t just hold on to your drama, and spiral in negativity. We have to deal with things head-on, absolutely. We can’t ignore problems and think they’ll go away. But we have to balance things out to stay motivated in what we do.
So… I gather information. I reflect on that information. But that’s not all. The next step is what makes it all come together.
3. Taking Action
Some people act without thinking. Others think without acting. But there must be a balance.
I try to think, and then take action.
OK, that’s pretty abstract. What do I mean in the context of advocacy?
There’s a reason I’m writing all of this… My greatest struggle in advocacy is acting without thinking. Just reacting in the moment. I see someone in need, and I react. Instinctively. I’m not saying that’s wrong. But without proper balance, it’s self-destructive.
I’ve shared my story of working in TV news on this site. For years, it was my job to watch through a viewfinder as the worst happened to others. And not react.
Don’t show emotion. Stay “locked down”. And don’t think about what you see. Ever.
When I left that world, I struggled. For years.
There’s a reason advocacy means so much to me, and why I keep coming back to it even when I think about giving all this up and moving on with my life…
And that’s because it gave me a path to take action and serve others.
But when I don’t take time to observe what’s going on around me, and then slow down to think about what it all means, I find myself reacting in the moment. And then sometimes I act against my best interests or out of alignment with my core values.
Advocacy can be emotionally intense work. So it helps my mental health to slow down and take care of my mind.
This isn’t about dry intellectualism for me. It’s about survival. All of those heavy realities I shared earlier? The messages about suffering, death, and stories from war? I have to balance the emotionally intense work of responding to those people by engaging my mind in a diligent, structured manner.
There is a reason I’ve been able to keep doing advocacy work for over many years. I take time to discover myself, think deeply about life, and take action that aligns with who I am and what I believe. And that’s something that I encourage for all advocates so the work is meaningful for you.
The work has an effect on my mind. So I have to take care of myself.
A Plea for More PKU Advocates
I have painted a picture of PKU advocacy here that may seem stark. And maybe you’re wondering why anyone would step into this arena.
May aim with this article has been to be as honest as I can be. I have had experiences throughout my advocacy journey that I wasn’t prepared for. I never imagined some of the conversations I would have with people.
And the more I speak with other advocates in our global community, the more I hear similar stories.
We often present the positive side of this work. We talk about making a difference and changing lives. And that is good.
But life isn’t picture-perfect.
We have to confront reality. And the reality is that if you get involved in PKU advocacy, you will be confronted with situations that you don’t feel equipped to handle. You won’t know what to say. And you will feel like you are letting others down.
And I’m just trying to tell you… That’s OK.
It’s going to happen.
Anyone expecting or demanding perfection from you is being unrealistic. As for me, I know exactly where those unrealistic expectations come from…
They come from me.
But even given all of these difficult realities, there is something I simply must say…
We need more people to step into the arena of PKU advocacy.
Many can’t because of the stresses of PKU life. I completely understand. You should never feel ashamed for needing help or asking for it. And those of us who serve should help you without question, demand, or coercing you to serve or give what you can’t.
But those who can, please step up. The PKU community needs you.
The cost may be heavy, but the rewards are immeasurable. And there is nothing like knowing you made a difference and changed lives.
Nothing.
A Closing Reflection on PKU and Mental Health
I’m sharing this article in May 2026 for PKU Awareness Month. Which means it has been almost four years since I first began thinking and writing about PKU and mental health. And it’s been a long four years.
I question myself about sharing all of this. Constantly. I recognize that talking openly about mental health makes some people feel uncomfortable.
But as a community, we must talk about PKU and mental health. People suffer in silence because they feel alone and misunderstood. We all go through tough times in life, and isolation is the path many of us choose.
That’s something I battle myself.
But the summer of 2022 was the moment things began to change for me. I was carrying life experiences and burdens that I hadn’t shared with the PKU community before. And then I attended a session on PKU and mental health organized by Ajinomoto Cambrooke and moderated by Dr. Kendra Bjoraker.
Dr. Bjoraker is a clinical neuropsychologist, and her presentation changed my life. I’ve told her that many times. And I’ve told my friends at Cambrooke, as well. I have been friends with Lynn and David Paolella and their entire family since the beginning of my advocacy journey. And they are personally invested in this topic. I credit all of them with the creation of this site, my podcast, and my entire exploration of PKU and mental health.
I believe in giving credit where credit is due. And all of them changed my life. It’s as simple as that.
Because in that session, as Dr. Bjoraker spoke I realized that my burdens in life, my experiences with PKU, and my advocacy journey all blend together. They make me who I am.
And before that session I had come very close to giving up advocacy. Forever. But after that session was over, I spent time the rest of the week writing in my journal. And I resolved to start talking more openly about the mental health burden of living with PKU.
It didn’t just give me a fresh approach to advocacy. It gave me a fresh approach to life.
It deepened my relationships, especially with those in the PKU community. Some people became closer friends. Some became family to me.
So when I say things like “Mental health is health”, I’m not just reciting a slogan we all see on social media.
I’m telling you about something that changed my life. And it can change yours, too.
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