The Reality of Rare Diseases: The Official Rare Disease Day Post

I have a rare or “orphan” disease, one that affects fewer than 200,000 patients. If you’re new, mine is a genetic respiratory condition called primary ciliary dyskinesia, or PCD. Cilia, the tiny structures that line the respiratory tract and clear out debris, do not work properly, leading to infections, decreased oxygenation, and long-term lung damage. There are only 1,000 documented cases of PCD but up to 25,00 Americans are thought to have it.

There are more than 700,000 rare diseases in the United States, and as I mentioned before, the 25 million Americans who live with them largely fly under the radar—disease-specific foundations work tirelessly to raise money and awareness, but there are few trendy wristbands, colored ribbons, or designated disease awareness months in our world.

The built-in community other conditions sometimes have is harder to come by; I’ve met exactly one patient with PCD in real life and though we said hello we could not stand too close and really speak to each other because of the communicable diseases we could spread to one another.

That’s why Rare Disease Day, sponsored here in the US by NORD, a nonprofit collaborative of voluntary health organizations that works for the prevention, treatment and cure of rare diseases through advocacy, research and education, is so important. I can vouch for how significant a role research has in the diagnostic trajectory of a rare disease patient—only with advanced technology could my new specialist hazard a look at the cilia causing so many problems and start treating me appropriately.

So the goal of this global day of recognition is just that—to raise awareness of rare diseases as a public health issue. For so many reasons it is a public health issue—we need to prevent disease progression, find more effective treatments, and keep rare disease patients as productive and healthy as possible.

But awareness goes much deeper than that.

For many patients, the first hurdle is awareness within the medical community itself. Like many PCD patients, it took years (or, um, my entire lifetime) for me to get a correct diagnosis, years where irreversible damage to my lungs occurred while I labored under treatments for the wrong condition. My father, who has a rare connective tissue disease, was misdiagnosed for over seven years. In the end, it caused him a kidney, multiple broken bones, and a correctly functioning pancreas.

Collateral damage, I suppose.

With more knowledge and technology at our disposal, hopefully rare disease patients across the disease spectrum will get more timely diagnoses and can start available treatment sooner.

Diagnosis isn’t the only hurdle—consider a patient with Ehlers-Danlos Syndrome I profiled in Life Disrupted, who was labeled a drug seeker by nurses in her ER because of her frequent (necessary) trips for dislocations. When I roll into the emergency room in respiratory distress and have to both spell and define PCD to the triage nurses and residents, though, I know I’m in trouble. It’s understandable; specialists are the ones who see these diseases regularly, not emergency room residents, but with communication and preparation—I bring a printout of my medical history and medications with me—it is a situation that is improving.

And then, of course, there is the public misconception. Even when I am infection-free I have a consistent cough, a loud, abrasive cough, and an audible wheeze. “Are you sick?” strangers will ask, not-so-discreetly stepping away from me. “No, I’m just me being me,” is my default retort. Convincing the person standing next to me on the train that I am not contagious is not easy, but I expect the whispers and queries in public, just like I expect the blank stares of incomprehension. If I say I have a rare disease or I have PCD, I just get a bigger blank stare.

Clearly everyone living with a chronic condition has individual challenges and struggles. Having something that is really rare just adds another layer of complication—and sometimes, that complication can have serious consequences. I think we’ve all heard enough “You have what?” and “I’ve never heard of that!” to last a lifetime.

With advanced technology and better diagnostic tools, the rare disease population is growing. Patients with serious childhood illnesses are living longer into adulthood and having their own children. Others are finally getting the right diagnoses and enrolling in clinical trials or connecting with other patients via online groups and social-networking sites. There is momentum, and with momentum, there is increased understanding.

Let’s hope so, anyway.