Burnout, Bureaucracy, and a 30-Minute Meeting That Took Five Years

By Rare and Relentless

Burnout is real.
In the last six weeks, I’ve had the flu twice. I’ve traveled more than I should have. I’ve spent hours advocating, organizing, testifying, and explaining—again and again—what it’s like to raise a child with a rare disease that most people, including many doctors, still don’t understand.

This week, I’m heading into my first 30-minute meeting with the FDA’s Rare Disease Innovation Hub. It’s a meeting I’ve spent five years preparing for—without ever knowing if it would actually happen. Now that it’s finally on the calendar, I find myself asking the same question I’ve asked a hundred times before: Will this be different?

My expectations are low. But my hope isn’t gone.

Five Years of Silence

I’ve poured the better part of five years into trying to get meaningful engagement from the FDA—on trial design, biomarkers, real-world outcomes, and patient experience. For families like mine, the stakes couldn’t be higher. A poor trial design doesn’t just lead to inconclusive data—it kills drug development. And for ultra-rare diseases like my daughter’s, there are no do-overs.

In those five years, every single contact I had at the FDA has either left, retired, or disappeared into reorganization.
The FDA’s website still lists leaders who haven’t been in office for months. No email bounces back. No one replies.

It’s hard to explain just how disorienting that is—especially when you’re advocating for a patient population with no approved treatment and a disease burden estimated at $7.23 million per child.

So What Is the Rare Disease Innovation Hub?

The FDA Rare Disease Innovation Hub is a cross-center initiative the agency created without a formal law to guide or protect it. There’s no congressional mandate. No statute that requires it to exist. It was launched in 2023 to centralize and coordinate rare disease efforts across CDER (drugs), CBER (biologics), and CDRH (devices). It was built to address criticisms that rare disease programs at the FDA were fragmented, inconsistent, and often left patients behind.

In theory, the Hub is meant to:

• Improve early engagement with researchers and families

• Advance use of biomarkers and surrogate endpoints

• Support rare trial design flexibility

• Centralize communication across FDA divisions

• Prioritize ultra-rare disease populations

• Early Access to Scientific Conversations

  The Hub is meant to give patients and caregivers a seat at the table early—before clinical trials are finalized or drugs are rejected.

  • You should be able to raise red flags about unrealistic trial designs or irrelevant endpoints.

  • You can share patient-reported outcomes or biomarker data to influence regulatory thinking.

  • For groups working with natural history data or registries (like work through Citizens Health), the Hub can validate that data for use in reviews.

But here’s the truth: without statutory authority, the Hub is only as strong as the leadership behind it—and as of today, that leadership is murky at best.

Who’s in Charge? It Depends Who You Ask.

The FDA’s public webpage for the Hub still lists outdated leadership, including Dr. Janet Woodcock (retired) and Dr. Patrizia Cavazzoni (no longer CDER director). The agency has not publicly announced a named director for the Rare Disease Innovation Hub. Internally, it’s now coordinated through the Office of Strategic Programs (CDER) and the Office of Therapeutic Products (CBER)—but the lines of communication are anything but clear.

There are rumors that Amy Comstock Rick or others with patient engagement backgrounds may be advising, but no official org chart confirms that.

This kind of opacity is dangerous. It makes it nearly impossible for advocates and patient communities to know who to contact, who’s accountable, and who’s driving the decisions that shape the future of rare disease therapy.

What Legislation Created the Hub? None.

Let’s be clear: the Rare Disease Innovation Hub is not the result of a passed law. It was not enacted by Congress.

Instead, it was enabled by:

• 21st Century Cures Act (2016) – which pushed FDA to integrate real-world evidence and patient data

• PDUFA VII (2023–2027) – which committed FDA to expand rare disease support, and funded parts of the Hub

• Internal FDA reorganization – designed to centralize fragmented rare disease efforts

That means it can also be dismantled, underfunded, or deprioritized—without ever going through Congress. And with current agency cuts and restructuring underway, especially under political pressure, that fear is real.

What Do I Want From These 30 Minutes?

Honestly? I want proof that someone is listening.

Not nodding along. Not placating with buzzwords like “patient-centric.” But listening—with the power and willingness to change outcomes.

I want someone to understand that the design of a trial is the difference between treatment access and therapeutic collapse. That 3,500 patients and their families are living on edge. That a 40% reduction in galactitol, the toxin ravaging our children’s brains, should have meant approval—not another FDA rejection based on a technicality.

I want this meeting to be the beginning of transparency, not another dead end. I will let you know how it goes!

Burnout Isn’t the End—It’s the Cost of Care

I’m tired. But I’m still here. Because the people making these decisions don’t live with the consequences—we do.I’m not fighting for a win. I’m fighting for a fair chance. And if this meeting opens even one door for meaningful reform—for conditional approvals, galactose labeling, or FDA accountability—it will have been worth it. But if it doesn’t, I’ll say so. Loudly. Because no child should be sacrificed to bureaucracy.