Galactosemia Reimagined: The Five Things I’ve Learned We Actually Need

For a long time, I believed the story we were given.

Diagnose early. Start the diet. Everything else will sort itself out.

But living with Galactosemia, raising a child with it, listening to adults who’ve carried it for decades, and watching what happens when the system looks away, teaches you something very different.

The truth is, Galactosemia doesn’t disappear after infancy. It settles in. It changes shape. It shows up quietly in places no one is tracking.

After years of conversations, questions, data, and lived moments that never quite fit the textbooks, five needs have become impossible for me to ignore.

1. We need a way to show what Galactosemia actually feels like over time.

Personally I have had some pretty dramatic days. Transitions over the lifespan are downplayed and misunderstood. Each year or years of transition for my daughter are confusing and mostly playing out on Facebook learning from other parents.

Fatigue that doesn’t lift. Tremors that make small tasks exhausting. Anxiety that feels neurological, not situational. GI issues that come and go without warning. Seizures that quiet down, then threaten to return if something shifts.

What I’ve learned is that people often don’t realize how much they’ve been struggling until something improves or how much they’ve lost until it comes back. Our current system doesn’t capture that. It asks for moments instead of movement.

We need ways to track change gently, over time, in ways that make sense to the people living it not just to the people reviewing charts.

2. We need the world to stop calling this “diet-managed.”

The diet matters. But it doesn’t finish the job.

Calling Galactosemia “managed” has consequences. It tells clinicians to stop looking. It tells insurers to stop covering. It tells adults that what they’re experiencing must be unrelated or in their head.

I’ve watched adults question their own reality because the system told them they should be fine. I’ve watched parents brace themselves every time a new symptom appears, wondering how they’ll explain it to someone who thinks the disease ended in infancy.

Words shape care. And this one has done real harm.

3. We need regulatory systems that understand what waiting costs.

Time is not neutral in Galactosemia.

Symptoms don’t always explode they erode. Slowly. Unevenly. Differently in every person. That makes traditional trials uncomfortable. But discomfort isn’t the same as impossibility.

Families live with the risk of decline every day. With the fear that improvement, once found, could be taken away. With the knowledge that stopping and restarting isn’t always harmless.

We need systems that understand that doing nothing is also a decision and one with consequences.

4. We need adult care that doesn’t feel like falling off a cliff.

Adults with Galactosemia are figuring things out alone.

Pregnancy. Infertility. Fatigue. Cognitive changes. Pain. Work. Aging. Mental health. There is no roadmap just fragments passed between patients like survival notes.

I’ve listened to adults describe symptoms they’ve never had words for. I’ve watched them weigh whether it’s even worth bringing things up to doctors who don’t know what to do with them.

Survival into adulthood should not mean invisibility once you get there.

5. We need tools that help right now—not someday.

Families aren’t waiting because they’re impatient. They’re building because they have to.

Symptom trackers. Surveys. Registries. Bedside tools. Structured summaries for doctors. They are problem solving together in a community. These aren’t hobbies. They’re harm reduction.

They’re ways to say, this is real, this is changing, and this matters, even when the system moves slowly.

Reimagining Galactosemia isn’t about rewriting the past.
It’s about finally listening to the present.

We don’t need to be told to be grateful for survival.
We need a system willing to see what survival actually looks like.

And until that happens, we’ll keep naming it ourselves.