Rare Is Not Rare: The #1 Hidden Epidemic

We Can Catch Criminals With DNA. Why Not Treat Patients?

I’m a crime junkie podcast mom. I can rattle off the names of cold cases cracked wide open thanks to a single hair, a discarded soda can, or the tiniest speck of blood. Gene sequencing can now identify one person in a pool of millions. That’s precision. That’s power. And it works.

But here’s what bothers me: if we can use gene sequencing to catch criminals, why can’t we use it to save patients?

As a former ICU nurse, I spent years following algorithms. Chest pain? Algorithm. Stroke? Algorithm. Respiratory distress? Algorithm. They save lives every day, but they also erase individuality. Protocols are written for the “average” patient, when in truth, every person has a unique health fingerprint. Just like DNA can identify a single suspect, your genome can reveal risks, hidden conditions, and personalized pathways to care.

So why hasn’t medicine caught up?

The Word “Rare” Hides the Epidemic

When we hear the term rare disease, we think of something unusual, maybe even exotic so rare it hardly matters. Labels like rare, orphaned, or too small to count dismiss the urgency before the conversation even begins.

But here’s the truth: rare is not rare.

• 1 in 10 Americans, 30 million peopl, live with a rare disease today (NORD, 2021).

• That’s more than cancer and HIV combined.

• It’s larger than the entire population of Texas.

And those numbers only reflect the conditions we’ve actually named. If we normalized whole-genome sequencing, we would uncover staggering numbers of misdiagnosed or hidden conditions common labels like “heart disease” or “epilepsy” that, at their root, are genetic disorders. There are about 20,000 known human diseases, conditions, and only a quarter of those disease have a FDA approved treatment driven by market and profit. We have about 20,000 genes any one error can cause a medical issues.

The name rare has kept the epidemic invisible. But epidemics don’t need to be contagious to be catastrophic. This one is written into our DNA.

Not Science Fiction—Science Suppressed

The general public still thinks of genetics as something out of Star Trek or a futuristic lab decades away. But the science is here now.

California’s Project Baby Bear proved it: $2.5 million invested in rapid sequencing for infants saved $12 million in hospital costs and spared 178 babies from unnecessary suffering (Farnaes et al., 2021). That was years ago, not the distant future.

So why isn’t every newborn sequenced? Why aren’t we all using our genetic fingerprints for personalized prevention?

Because the system suppresses it. Pharma thrives on mass markets. It’s easier to make billions from a cholesterol pill for millions of people than to build dozens of niche therapies for smaller populations. Insurers dismiss rare disease coverage as “too expensive” while ignoring the trillions lost to preventable disability. And regulators cling to one-size-fits-all trial standards that don’t fit diseases with only a few hundred patients.

The technology exists. The barrier is willpower.

The Numbers Don’t Lie

Take galactosemia, the ultra-rare metabolic disease my daughter lives with. Based on decades of research and patient stories, the preventable lifetime burden is $7.23 million per patient. That’s not just medical bills—it’s lost wages, special education, therapies, and caregiving that never ends. (And thats a low projection of the lowest disease progression in galactosemia. My own daughter is 8 and has had over 300 drs visits and 30 hospital stays.)

Multiply that by 3,500 Americans with galactosemia and you’re looking at over $25 billion in preventable costs.

Now scale that across 30 million Americans with rare disease. Suddenly the so-called “niche” becomes one of the largest hidden drains on our healthcare system. Rare isn’t rare. It’s everywhere.

And the burden is preventable. In galactosemia alone, a $5 million NIH investment in diagnostics and biomarkers could save $117–425 million in long-term costs. That’s a 23x to 85x return. We already have proof-of-concept. What’s missing is the decision to act.

What If We Flipped the System?

The way things work now, pharma companies chase blockbusters. That’s why you see TV commercials for heartburn meds, statins, and antidepressants. Mass markets equal mass profits.

But what if your heart disease isn’t just “heart disease”? What if it’s rooted in a rare mutation? What if your seizures aren’t “just epilepsy” but a metabolic disorder hiding beneath the surface?

Standardized care can’t solve that. Personalized care could.

If we can find one criminal in a million through DNA, we can certainly identify one patient in ten through gene sequencing. It means flipping healthcare priorities from population averages to individualized fingerprints. It means approving drugs for smaller groups with flexible standards. It means covering medical foods and therapies as necessities, not luxuries. It means using the science we already have to stop damage before it happens.

Why This Matters for Everyone

Some people think rare disease advocacy is about the few. But solving rare disease means solving medicine for all.

• The same sequencing tools that diagnose a newborn with galactosemia can spot cancer mutations earlier.

• The same biomarkers that track sugar buildup in metabolic disease can inform diabetes and Alzheimer’s research.

• The same individualized therapies built for ultra-rare disorders can change the way we treat “common” conditions.

Rare disease is not a detour. It’s the blueprint for the future of medicine.

The Call to See What’s Hidden

Every week, the headlines warn of a new “hidden epidemic”—opioids, loneliness, obesity. But the true hidden epidemic has been here all along: rare disease.

It affects 1 in 10 Americans. It costs families millions. It exposes the cracks in a system built for averages instead of individuals. And as genome sequencing expands, it will only grow.

The solutions are clear:

• Normalize whole-genome sequencing for every newborn.

• Fund rare disease research at the NIH.

• Approve therapies with flexibility for small trials.

• Cover medical foods and therapies as essentials, not electives.

• Recognize rare disease disability in Social Security criteria.

Because when we finally admit that rare is not rare, we’ll stop treating it like an afterthought and start building a system that works for everyone.

The Future Is Personal

As a nurse, a mom, and yes, a crime-junkie podcast listener, I can’t stop thinking about the contradiction: we have the technology to find one criminal in a million, yet we don’t use the same tools to save the 1 in 10 Americans living with a rare disease. And here’s the most haunting number: 35% of children with a rare disease die before the age of five. If we choose not to act when the science exists, is that not its own kind of crime?

We deserve a healthcare system that sees us as individuals, not averages. We deserve treatments tailored to our unique health fingerprints. We deserve to use science not only in crime labs, but at the hospital bedside where lives are on the line.

Rare isn’t rare. It is the hidden epidemic of our time and the future of medicine. The sooner we face that truth, the sooner we all get the care we deserve.