As part of our Traces of PKU campaign organised on the ocassion of InternationalPKUDay, Gavin shared his experience of living with PKU and receiving a diagnosis of another health condition — a pituitary adenoma. We now share his story in full.
Living With an Invisible Weight: My Mental Health Journey with PKU and a Hidden Hormonal Disorder
Some stories take years to understand, and even longer to tell. Last year, when I was asked at ESPKU to share an anecdote about what living with PKU feels like, my mind went blank. I couldn’t find the words in that moment. Only later did I realise the answer had been with me all along—quietly sitting behind my eyes.
A year before that event, I learned I had a pituitary adenoma—a benign tumour that disrupts the body’s master hormone gland. It’s a tiny, almost invisible thing, but its impact was anything but small. For years it wreaked havoc silently, leaving me wrestling with symptoms of conditions that seemed unconnected: depression, exhaustion, anaemia, even sleep issues and bone health concerns. Some of these symptoms are easily mistaken for high phe levels or poor dietary control. However, my levels were relatively well controlled, and I had a balanced diet incorporating the PKU medical nutritional therapy. On paper, I was doing everything right. What made this journey especially hard was the mental toll of not knowing. Each new test felt like another attempt to make sense of a body that seemed to be working against me. Living for years without answers is its own kind of psychological weight.
When Healing Feels Like Waking Up
When I was finally diagnosed, treatment marked the beginning of a profound shift. As my hormone levels stabilised, something remarkable happened: energy returned. Life felt more manageable. Motivation no longer felt like something I had to drag out of myself.
For the first time in years, it felt as though the handbrake had been released.
I hadn’t realised how much weight I’d been carrying until it lifted.
The emotional realisation that followed was complex:
How much of my life—my choices, opportunities, and ambitions—had been shaped by a condition I didn’t even know I had?
The Grief No One Talks About
That question led me back to PKU. I find myself wondering whether some of the burden I associate with PKU may also be heavier than I have allowed myself to acknowledge. The physical and mental symptoms, the cognitive strain, the emotional fatigue. Over time, it accumulates. PKU is a relentless negotiation. Every meal calculated. Every social event assessed. Every deviation carrying potential consequence. At times, the rigid routine can feel like a prison. Over time, you adapt out of necessity, becoming quietly institutionalised by the restriction. Stability is fragile, and small disruptions can quickly snowball into fluctuating phe levels, often followed by guilt and regret. Life is messy, and perfection is impossible. Yet improvisation and spontaneity rarely sit comfortably in the PKU vocabulary.
Emerging research has demonstrated that PKU affects neurotransmitter pathways, including dopamine and serotonin synthesis. Understanding this helped me contextualise how it amplified what I was already experiencing from the pituitary adenoma—particularly the undercurrent of depression. It reinforced that these symptoms were not purely psychological, nor indicative of a lack of effort or resilience.
While the neurochemical effects helped explain the emotional symptoms, the physical consequences were equally confronting. Bone health complications added a new dimension to the challenges I was already navigating. I became cautious to the point of fear—afraid of injury, hesitant to push myself physically, wary of fragility. Although treatment has helped, the anxiety hasn’t disappeared entirely. There remains a lingering fear of the unknown future of PKU—of what it may mean for my brain and physical health, my resilience, my independence in the future.
Chronic conditions don’t just change your present; they rewrite your past and reshape the future you thought you might have had.
People often talk about the grief parents feel when their child is diagnosed with PKU.
But I began asking a different question: Can an adult with PKU grieve the life they didn’t get to live? For invitations declined because food felt like an obstacle rather than a joy. For journeys not taken because the logistics felt overwhelming. For life goals quietly adjusted toward what felt manageable rather than what felt ambitious.
I’ve never seen myself as a victim of my genetics. I’ve always refused to let PKU hold me back. Yet the truth is harder and more nuanced: there are limits I cannot pretend don’t exist. there are simply some jobs I could never take, some places I couldn’t go, some risks I couldn’t afford. Travel plans, career paths, social experiences—they all came with mental calculations and emotional compromises that people around me couldn’t see.
The Invisible Battle
Both PKU and the adenoma share one defining trait: invisibility.
To the outside world, I looked fine. I functioned. I was coping, not thriving.
Inside, it felt like negotiating constantly with energy levels, mood swings, cognitive fog, and emotional limits. That is the isolating reality of chronic, unseen illness: you are fighting battles no one knows you’re in.
Mental health isn’t just about feeling sad or anxious. It’s about identity, the weight of invisible limitations, and the daily discipline required to manage a condition that never switches off.
Moving Forward—Handbrake Off, But Not at Full Speed
Treatment has lifted a burden I did not fully recognise until it was gone. That experience has reshaped how I think about PKU—and about myself. I am learning to distinguish between resilience and silent endurance, between acceptance and unnecessary limitation.
The handbrake is off, but the road is not suddenly effortless. I am still learning how to move beyond second gear. Still recalibrating expectations now that energy and clarity feel different.
Living with PKU will always require structure and discipline. But it should not mean accepting preventable decline or dismissing persistent symptoms as inevitable. My experience reinforces the importance of holistic, lifelong care.
For the first time, I am imagining a future defined by possibility, not limitation. Because when the weight lifts, you are left with a question:
Who might I become now?