Desperate and Uneducated: The Labels That Silence Rare Disease

The Words That Cut Deep

I was at a conference when it happened again. A speaker used those two familiar words to describe patients: desperate and uneducated. My phone buzzed as a friend in the audience texted me, both of us frustrated, both of us biting our tongues. Passion and anger surfaced, but the session moved on too quickly for me to respond out loud.

That silence did not erase the sting. These words are used too often, in too many professional rooms. I resent them because I have heard them echoed in research discussions, in legislative meetings, and in hospital settings. They are shortcuts that dismiss the depth of what rare disease families know and live every single day.

Later, I vented to my husband, Rocky. He listened and said gently, “Well, I think you’re unique.” I shook my head. No. I don’t believe for one second that anyone in the rare space is uneducated. Families carry knowledge born of necessity. My husband may not know in the language of p values, but he…..WE speak in lived experiences—our children’s bodies, our daily battles, our survival.

Not Unique, Just Living Rare

When I pushed back on Rocky’s comment, it was not out of false humility. It was conviction. I am not unique. Rare and ultra rare families carry more medical knowledge than anyone gives them credit for.

We do not always speak in terms of statistical significance or confidence intervals, but we speak in terms of seizures prevented, words spoken for the first time, or bone density numbers creeping upward. We know when a therapy works, and we know when it fails. New moms getting survival tips from other seasoned moms. Experts are usually too far out of reach.

That is not desperation. That is expertise.

Education Is Not the Barrier

Calling rare families uneducated is not only wrong, it is insulting. Education is not the barrier, access is. Patients teach themselves genetics, biochemistry, trial design, and health economics, because no one else is teaching them.

If anything, rare disease families research deeper than most professionals. We read medical journals for fun, chase down primary sources like it’s detective work, and cross check trial reports at the kitchen table. Meanwhile, when someone suggests essential oils or magic crystals, we roll our eyes, text each other, and laugh because let’s be honest, if lavender cured metabolic disorders, we would all be cured by now.

We joke about the silly options people throw at us, but we do not risk it. We know the stakes are too high.

Uneducated? Please. Most of us could practically guest lecture at your medical conference.

A Challenge to Professionals

If patients are constantly labeled as desperate or uneducated, then it is time for professionals to ask themselves: Why am I using those words?

Take inventory. Are you uncomfortable with the accountability patients bring? Are you avoiding the truth that the system itself creates desperation?

The fallback line is familiar: “That is not the way it is done. It is more complicated than that.” But let’s be honest, that is not a real answer. It is an excuse. Complexity should never be a shield for inaction. Rare families live in complexity every day—juggling hospitalizations, insurance denials, school IEPs, and constant medical monitoring. If they can hold that complexity and still see common sense solutions, then professionals should be able to do the same.

Instead of dismissing patient insight, elevate the conversation. Ask yourself:

• Is the question valid?

• Does it point toward the outcome we claim to want?

• If so, why not pursue it?

Patients do not need professionals to explain why the system cannot change. They need professionals willing to make it change.

Reframing the Labels

Rare disease families may look desperate, but the truth is more complex. We are not uneducated—we are deeply informed. And yes, many of us are desperate, but not in the way professionals use that word.

Desperation in this space is not recklessness. It is urgency. It is passion. It is the weight of knowing that time is measured in organ damage, developmental milestones, or lost futures. It is fighting for answers when every system says wait.

When you hear or see a patient act “desperate,” ask for their story. Find the why. More often than not, what looks like desperation is a parent’s love, a patient’s fight for survival, or a community’s demand for accountability.

We are not desperate in the sense of being irrational. We are desperate in the sense of being deeply passionate, deeply committed, and unwilling to let professionals forget what is at stake. We keep the system accountable—that is the truth.

From Desperation to Demands

The rare community is not desperate. We are demanding. There is a difference.

Desperation is chaotic; demands are clear. Desperation is irrational; demands are evidence based. Patients are asking for what science already shows is possible:

• Appropriate trial standards for ultra rare diseases, where small patient populations make rigid statistical thresholds harmful.

• FDA flexibility that honors its own guidance allowing one well conducted trial plus confirmatory evidence.

• Coverage equity from CMS so that medical formulas, therapies, and off label drugs are treated as necessities, not luxuries.

• SSA recognition of rare disease disability so families are not denied support based on outdated criteria.

These are not desperate pleas. They are common sense solutions.

Why Language Matters

Words matter in policymaking. When legislators or regulators dismiss patients as desperate or uneducated, they undermine credibility. That framing ripples outward: into coverage denials, into clinical trial rejections, into SSI claim denials.

If the narrative is that patients are irrational, then their testimony is downgraded. If the narrative is that they are uneducated, then their expertise is ignored. This is how systemic failures perpetuate themselves.

Changing the language is not about sensitivity. It is about truth. Patients are not desperate. They are demanding action because time, bodies, and futures are being lost while systems stall.

A Call to Respect Patient Knowledge

The rare disease movement needs a reset in how it values the patient voice. Policymakers, researchers, and regulators must:

• Retire the labels. Stop calling patients desperate or uneducated.

• Recognize expertise. Patients carry decades of lived knowledge, often surpassing professional familiarity.

• Act with urgency. Recognize that what sounds like desperation is actually accountability.

Closing: We Are Not Desperate

The rare community is not desperate, it is relentless. It is not uneducated, it is resourceful. These are the qualities that will change policy, drive innovation, and save lives.

So the next time you feel tempted to call patients desperate or uneducated, think twice. We are not your stereotype—we are your toughest critics, your best accountability partners, and the reason the system will eventually move forward. Call us desperate if you want, but know this: desperate people get things done.

And if I am in that conference room when you use those words, I promise to stand up, grab the mic, and challenge that thought. Consider this your fair warning—I come with facts, stories, and just enough sass to make the whole room laugh while I set the record straight.