I Wrote the System Failure Report. Why Do I Still Have to Prove My Daughter’s Pain?
Writing System Failure: $7.23 Million per Galactosemia Patient in Preventable Burden was never just about numbers. It was about making sense of the stories—mine included. I spent months gathering data, formatting citations, designing charts, and pulling together decades of science and lived experience. The report lays out the lifetime cost of living with classic galactosemia, a rare genetic disorder that affects roughly 3,500 Americans.
And yet, even with all the evidence in one place, I find myself asking: why do I still have to prove this burden exists?
Why do I still feel like I’m on trial for my child’s reality?
The Burden Isn’t Hypothetical. It’s Personal.
When my daughter was diagnosed with galactosemia, I did everything I was told to do. We followed the diet. We monitored symptoms. We saw specialists. But it quickly became clear that no amount of compliance could stop the progression. She faced delays, complications, and challenges that simply didn’t match the clinical assumption that diet was enough.
So I did what I’ve always done when I don’t have answers—I went to the research.
The $7.23 million lifetime cost I calculated isn’t inflated or dramatized. It comes from the combined weight of disability services, lost income, special education, therapies, and medical care. It includes data from Dr. Berry’s decades-long natural history study, national registries, and real-world caregiver accounts. This number is the sum of system failures—not patient failures.
Still, we get the same questions from agencies and institutions. Is this really that serious? Couldn’t the child just avoid dairy? Is this rare enough to warrant federal focus?
Rare Shouldn’t Mean Ignored
I don’t take political sides in my advocacy. I work with Republicans and Democrats alike. This isn’t a red or blue issue. It’s about building a system that recognizes when families are slipping through the cracks—and stepping in to fix it.
Classic galactosemia has no FDA-approved treatments. Many families struggle to access basic therapies, even when peer-reviewed guidelines say they're necessary. Others are denied essential medical nutrition because their child isn’t tube-fed. Some can’t even get disability recognition from Social Security, despite significant neurocognitive and speech impairments.
I’m not asking for special treatment. I’m asking for fair recognition of the burden—so families aren’t forced to navigate this alone.
Staying Grounded in What We Know
This condition, like many rare diseases, still has unanswered questions. And I won’t pretend to have all the answers. I stay cautious about theories that haven’t been proven in peer-reviewed science. What I do know is that the harm is real, the costs are measurable, and the human impact is undeniable.
Endogenous galactose—the sugar our bodies make on their own—isn’t something we can just cut from a label or a meal plan. It builds up in tissues and leads to complications over time. That’s not a theory. That’s biochemistry.
And yet, we don’t have the biomarkers, diagnostics, or treatments to keep up with that reality. That’s what this report calls for: $5 million in NIH funding to develop the tools that would let us stop treating symptoms and start preventing damage.
The Emotional Toll of Constantly Having to Explain
It’s not just the policy grind that wears me down. It’s the emotional weight of always having to reframe my child’s needs in language that systems will understand.
I can’t just say, “She’s struggling.” I have to say, “She requires early intervention services due to documented developmental delays tied to metabolic neurotoxicity, as outlined in peer-reviewed literature.”
I can’t just say, “This formula keeps her alive.” I have to say, “The lifetime cost of denying this medical nutrition is $2 million, while coverage would reduce avoidable complications by over 40%.” And still, we’re often denied.
When families send me messages at 3 a.m. from the ER, or ask how to appeal another insurance denial, or tell me their adult child was rejected for SSI again—it’s not just their frustration. It’s mine too. Because I know what’s coming next: another round of proving what should already be recognized.
What We’re Asking For Isn’t Radical
Everything I ask for in the System Failure report is reasonable:
Restore and increase NIH funding for diagnostics and biomarker discovery.
Mandate galactose and lactose labeling on prescription drugs.
Use FDA flexibility to approve therapies in line with their rare disease guidance.
Pass the Medical Nutrition Equity Act.
Recognize galactosemia as a disabling condition in SSA criteria.
These aren’t moonshot asks. These are fixes grounded in data, feasibility, and cost-effectiveness. A $5 million investment could save $117 to $425 million, while sparing families decades of trauma.
I Wrote the Report. But the Fight Isn't Over.
After 43 pages, dozens of citations, and months of work, I thought this report might finally be the tipping point. And maybe it will be. But the truth is, I’m tired of tipping points. I want to get to the part where families don’t have to defend their lived experience just to qualify for care.
I’ll keep doing this work, because I believe in it. But I hope that someday, no parent has to write a 43-page paper just to prove their child’s life matters.
Until then, I’ll keep fighting.
