Rethinking Mental Health Through a Metabolic Lens
Disclaimer
Disclaimer & Intent
This post reflects personal observations, lived experience, and evolving hypotheses shared for discussion and educational purposes only. It is written with the intention of encouraging open dialogue and inviting a new generation of researchers to explore questions that remain underexamined in this field. We need more researchers.
I am not a physician, and nothing in this post should be interpreted as medical advice, diagnosis, or treatment. This content is not a substitute for professional medical care. Individuals should always consult their healthcare providers regarding medical decisions, treatments, or changes to care.
The perspectives shared here are offered in the spirit of curiosity, collaboration, and progress — with the hope that continued discussion and research will expand understanding, generate new questions, and ultimately improve health and quality of life.
I want to start by being very clear.
I am not a doctor.
I am not diagnosing anyone.
I am not telling anyone what treatment they should or shouldn’t pursue.
What I am doing is thinking out loud — as a parent, an advocate, and someone who has spent years listening closely to people living with Galactosemia — about patterns that keep showing up, and whether we may be missing something important in how we talk about mental health and brain health.
This post is not a conclusion.
It’s a discussion.
A hypothesis.
And a hope that more research might bring clarity — and more options — to people’s health journeys.
The patterns I keep noticing
Across childhood, adolescence, and adulthood, many people with Classic Galactosemia describe experiences such as:
Anxiety that feels physical before it feels emotional
Social anxiety tied to visibility, speech, or being “on display”
Depression that doesn’t always match life circumstances
Tremor that worsens with stress, fatigue, or attention
Periods where mood, anxiety, and motor symptoms flare together
These experiences are often treated as separate psychiatric diagnoses — anxiety here, depression there, tremor somewhere else.
But what if they’re not actually separate?
A different way of thinking — hypothetically
Galactosemia is a lifelong metabolic condition. Even with dietary management, the body continues to produce galactose internally. Decades of research show that the brain can be affected — not necessarily in dramatic or obvious ways, but subtly, across development and over time.
So here’s the question I keep coming back to:
What if some of what we label as “mental health symptoms” in Galactosemia are, at least in part, downstream effects of altered brain networks shaped by metabolism — rather than standalone psychiatric conditions?
Not instead of psychology.
But in addition to it.
A network-based lens (as a hypothesis, not a fact)
If brain connectivity is altered — particularly in systems involved in:
Emotional regulation
Threat perception
Motor control
Autonomic balance
Then symptoms like anxiety, depression, and tremor might naturally cluster, fluctuate together, and respond inconsistently to one-size-fits-all treatments.
This could help explain why:
Anxiety can feel sudden and bodily
Depression can feel flat or draining rather than reactive
Tremor worsens under emotional or cognitive load
Some treatments help some people, but not others
Again, this is not proven.
But it is biologically plausible.
And it aligns with lived experience in ways that deserve attention.
Why this reframing matters to me
Language matters.
How we frame symptoms shapes how people are treated — and how they see themselves.
When mental health symptoms are viewed only through a psychiatric lens, people can be left feeling like the problem is coping, mindset, or resilience.
But when we allow room for a metabolic–neurologic contribution, new doors open:
More nuanced research questions
Broader treatment conversations
Thoughtful exploration of off-label medications
Targeted therapies (speech, motor, autonomic, sensory)
Multidisciplinary care that treats the whole person
Most importantly, it reduces shame.
Shame, “powering through,” and why biology changes the conversation
Mental health struggles often carry shame.
The first adult with Galactosemia I ever spoke with didn’t ask for medical help. When I asked what they needed, they said quietly, “I just want to be able to ask someone on a date. I’m so shy.”
Social anxiety exists in many adults. But adults with Galactosemia can be uniquely vulnerable to it — not because they lack confidence or the desire for connection, but because social situations can feel physically overwhelming, not just emotionally uncomfortable. That vulnerability deserves understanding, not dismissal.
I love the adult Galactosemia community. They mean the world to me. I think they are smart, funny, thoughtful, charming, and deeply underestimated. I want to see them set up for success — with real opportunities to enjoy life, relationships, and their own health journeys, whatever those may look like.
Truly, I could gush about every adult I’ve met — their uniqueness, their humor, their insight, and the challenges they’ve overcome. They are not a group to be “managed.” They are a group to learn from.
And yet, people are often told — directly or indirectly — to power through, try harder, or push past it. When symptoms don’t improve, that message can become internalized: this must be my fault. That isn’t realistic or fair. Many people are far harder on themselves than they need to be.
That framing breaks down when the root of the problem is biological.
If anxiety, anger, emotional overload, or shutdown are coming from how the brain is functioning — not from character, effort, or attitude — then shame does not belong here.
This is not a weakness.
It is not something someone caused.
It is not something they failed to overcome.
It is a medical condition.
Changing the framing matters because it changes the questions people feel allowed to ask.
Instead of:
What’s wrong with me?
Why can’t I handle this?
Why am I like this?
It becomes:
How is my brain being affected?
What support does my nervous system need?
How can my doctors help me function better?
That shift is empowering.
It moves people out of hiding and into care.
A comparison that helps me understand this
When I look at my child, I sometimes think about other metabolic and neurological conditions we already understand well.
For example, most people know that when a person with diabetes has blood sugar that is too high or too low, it can affect their behavior. They may become confused, irritable, anxious, emotional, or even aggressive. No one assumes they are being difficult. We understand that the brain is not getting what it needs, and the behavior is a signal.
We see the same thing in Parkinson’s disease. Long before severe movement symptoms appear, many people experience anxiety, depression, impulse control issues, or emotional changes. These are now recognized as features of the disease, not flaws in the person.
In dementia, families often notice personality changes, poor judgment, anger, or withdrawal before memory loss becomes obvious. Again, we separate the person from the disease. We don’t say, “This is who they are now.” We say, “This is what the disease is doing to their brain.”
Even in conditions like COPD, anxiety is common. When oxygen levels drop, the brain goes into fight-or-flight mode. The person feels panicked because the body thinks it’s suffocating. The anxiety makes sense. It’s biological.
These examples matter because they show a simple truth:
👉 Metabolic and neurological diseases can directly affect emotional regulation.
Mental health symptoms are not always situational.
They are often biological responses to disease..
This is not the person.
It is the disease.
Separating the two matters.
When we fail to separate cause from character, people carry shame for symptoms they did not choose. But when we name the biological cause, we give people permission to stop blaming themselves — and to ask for help without guilt.
That doesn’t mean the person is weak.
It means their brain is under biological stress.
And recognizing that difference is not excusing behavior — it’s understanding it well enough to support the person behind it.
A quiet but important concern
There is one additional pattern I feel compelled to name — carefully, and without alarm — because it comes up too often in the stories I hear.
In some individuals, especially as they move into adolescence and adulthood, the earliest signs of vulnerability are not always medical or motor.
They are behavioral.
Families sometimes describe periods of:
Intense or sudden anger that feels out of character
Impulsive decisions or difficulty thinking through consequences
Trouble processing information or making decisions under stress
A strong push for independence paired with poor risk awareness
When these changes appear, they are often interpreted purely as behavioral, psychiatric, or simply a “phase.”
But history across many brain-based conditions has taught us that behavioral and mental health changes are sometimes the first outward signs of neurological vulnerability, long before anything obvious shows up on scans or tests.
Galactosemia is frequently thought of as a pediatric condition, with an unspoken assumption that once someone reaches adulthood, the major risks are behind them. Yet Galactosemia is lifelong, the brain is involved, and progression — when it occurs — may be slow, subtle, and uneven. This is when some adults are the most vonerable
This disease is also heterogeneous and exists on a spectrum. There are adults who experience minimal symptoms and need no intervention — and that is real and important to acknowledge.
But Galactosemia is also largely invisible. Many adults appear capable on the surface, which can make it easy for systems to assume full independence without assessing whether decision-making, judgment, and vulnerability fluctuate depending on context.
I worry about this most when I hear stories of adults leaving structured or supported environments, only to be taken advantage of — financially, emotionally, or socially. Not because they lack intelligence or worth, but because certain cognitive and emotional vulnerabilities can make people easier targets for manipulation.
I am not suggesting inevitability.
I am not suggesting that this happens to everyone.
And I am not suggesting that independence should be denied.
I am suggesting that awareness matters — especially when history tells us that waiting for certainty often means waiting until harm has already occurred.
This is not about fear.
It’s about paying attention early, with compassion, and recognizing that independence and vulnerability can coexist.
What I hope comes next
I’m not trying to replace existing mental health models.
I’m hoping to expand them.
I hope future research:
Looks at mental health in Galactosemia as a systems issue, not isolated diagnoses
Explores brain connectivity, autonomic regulation, and motor–emotional overlap
Tests a wider range of therapeutic approaches — medical and non-medical
Gives patients more options, not fewer
also encourages patients to protect themselves early
Because everyone’s health journey is different.
And understanding opens doors that labels alone cannot.
This post isn’t an answer.
It’s a way of asking better questions.
And I hope those questions lead to more light, more compassion, and more paths forward — for people living with Galactosemia, and for anyone whose mental health deserves deeper understanding.
For Families Who Want to Learn More (Plain-Language References)
You do not need to read medical journals to understand the main takeaway from research on Galactosemia and the brain. Here is what scientists have found, explained simply, with links for anyone who wants to explore further.
Galactosemia does affect the brain — even long after childhood
What this means:
Galactosemia is not something that only affects babies and then goes away. Researchers studying hundreds of people across many countries have confirmed that brain-related challenges can continue into adolescence and adulthood — even with good dietary control. Its a spectrum so not everyone, or at even a defined period in lifetime has the same onset.
Study:
The natural history of classic galactosemia (GalNet Registry)
👉 https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1047-z
This large international study showed that many adults experience neurological, cognitive, and behavioral challenges over time.
“Mental and behavioral problems occurred in 128/288, 44.4% of the patients with a higher frequency in male patients as they grow older (p = 0.017)”
Brain scans can show differences — even when someone “looks fine”
What this means:
Standard brain scans don’t always show obvious damage, and many people with Galactosemia appear outwardly capable and healthy. But newer MRI techniques have shown that there can be subtle differences in brain tissue and brain connections — differences that affect how the brain functions, not how a person looks.
These changes can influence things like:
Movement and coordination
Thinking speed and processing
Emotional regulation and stress response
That said, this does not mean routine MRIs are recommended or necessary for everyone. Imaging is just one tool.
What can be important is a neurological evaluation with a knowledgeable physician when concerning signs or symptoms appear. A neurologic assessment looks at how the brain is functioning in daily life — not just what it looks like on a scan.
Sometimes families understandably ask, “If there’s no cure, what’s the point?”
But that way of thinking can be limiting.
Neurological assessments matter because:
There are treatment options for symptoms (even if there’s no cure for the disease itself)
Supportive therapies, medications, and accommodations can improve quality of life
A documented diagnosis can open doors to services, insurance coverage, and disability supports
It helps validate experiences that might otherwise be dismissed
Because Galactosemia is largely invisible, these evaluations can bring visibility to challenges that others may not recognize — including resources families may not even know exist.
Getting answers isn’t about labeling or giving up hope.
It’s about understanding the full picture so people can access the support they deserve.
Study:
Gray and white matter are both affected in classical galactosemia
👉 https://doi.org/10.1016/j.ymgme.2020.11.001
This study showed that changes in the brain are linked to things families actually notice — like tremor, learning differences, and cognitive fatigue.
Brain connections (networks) are different
What this means:
The brain works through networks — groups of regions that communicate with each other. Some MRI studies show that in Galactosemia, certain networks involved in emotion, stress response, decision-making, and motor planning don’t communicate the same way.
This helps explain why symptoms like anxiety, emotional overload, tremor, and difficulty with attention often show up together.
Study:
Resting-state brain network differences in classic galactosemia
👉 https://www.nature.com/articles/s41598-017-09242-w
“This study found that brain network differences were related to real-world thinking and behavior — not just test results. The brain represents one of the target organs of damage in classic galactosemia, an inborn error of galactose metabolism, resulting in chronic impairments with significant impact on quality of life and general performance1–3”
A sugar alcohol can affect the brain
What this means:
In Galactosemia, the body produces galactitol, a sugar alcohol. Research has shown that galactitol can build up in brain tissue.
This matters because alcohols (including sugar alcohols) are known to affect how brain cells function and communicate.
Study:
Galactitol detected in the brain using MRI spectroscopy
👉 https://www.ajnr.org/content/27/1/204
This study directly detected galactitol in the brain, showing a biological reason for brain-based symptoms.
Galactose exposure doesn’t stop — even with diet
What this means:
Even when someone follows the diet perfectly, the body still makes galactose on its own. This means the brain is exposed to metabolic stress every day, across a lifetime. There is a complex spectrum of how this plays out in life. Not everyone has the same experience or damage.
Study:
Endogenous galactose production in galactosemia
👉 https://doi.org/10.1016/j.ymgme.2011.12.005
This explains why symptoms can persist or change over time — and why “doing everything right” doesn’t always prevent challenges.
Mental health symptoms can be biological — not personal failure
Why this matters:
In many brain-based diseases (like Parkinson’s, dementia, and metabolic conditions), mental health symptoms often show up before clear neurological decline.
This doesn’t mean someone is weak, lazy, or failing.
It means the brain is under stress.
General educational resources:
Parkinson’s & mental health symptoms
👉 https://www.parkinson.org/understanding-parkinsons/non-movement-symptomsDementia & early behavioral changes
👉 https://www.alz.org/help-support/caregiving/stages-behaviors
These are included to show that this pattern is well known in brain disease — Galactosemia is not unique in this.
The takeaway for families
You don’t need to prove everything to know something matters.
Research already tells us that:
Galactosemia affects the brain
Brain changes can be subtle and slow
Mental and behavioral symptoms can have biological roots
Shame and “just power through” thinking are not helpful
Understanding this doesn’t take away independence or hope.
It gives families language, validation, and permission to ask for help.
If you take nothing else from these studies, take this:
If something feels hard, it doesn’t mean you failed.
It may mean your brain needs support.
