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Living With Rare Diseases: Why Awareness Matters

Research and funding are critical, but understanding goes a long way, too

While I don’t share the same diagnosis or symptoms, when I read a recent New York Times Op-Ed on living with a rare disease, I couldn’t help but nod my head in agreement with the Allison Hersh London’s experiences with dystonia. Solidarity is hard to come by in the rare disease community, but that alone is perhaps the greatest unifying element we have: finding common ground in being outsiders.

Nearly 7,000 rare diseases affect an estimated 30 million Americans. By definition, a rare disease is one that affects fewer than 200,000 patients, but many of these population pools are much smaller. My own rare genetic disease, primary ciliary dyskinesia (PCD), is thought to affect 25,000 Americans, but only around 400 people have been accurately identified.

I was twenty-three before I received the correct diagnosis for the respiratory problems I’d had since birth. Long waits are an occupational hazard of living with conditions physicians just don’t see often enough to recognize. According to a recent health impact study, it takes an average of seven years for a rare disease patient to get diagnosed in the United States.

If pressed, I am not sure close family and friends, who are wonderfully supportive, would be able to name what I have, or how it functions in my body. Considering that even health care providers don’t always know what I mean when I tell them I have PCD, this isn’t too surprising. But it can certainly be isolating, particularly given how much is made of awareness of big-name diseases in our culture.

Through cause-related marketing of popular diseases through charity events, national disease months, and the purchasing of consumer products, we celebrate both awareness and survivorship. However, the true value of awareness is when it is a means to a greater end. In the case of rare disease patients, who live with conditions that are treatable at best, this means we aren’t going to see the same corporate sponsorships and big-name charity events to raise both funds and awareness, and our notion of survivorship entails something altogether different.

There are policies and programs that help support us, like the Orphan Drug Act, which provides financial incentives to companies investing in orphan drug development. In the decade prior to its passage, only ten drugs were developed. In the thirty years since, the FDA has approved 400 drugs for patient use, and an estimated 2,700 drugs are in the research pipeline. The National Institutes of Health (NIH) launched its own integrated drug development pipeline, named Therapeutics for Rare and Neglected Diseases (TRND), in 2009, which connects NIH researchers, pharmaceutical and biotech companies with nonprofit organizations.

Still, the majority of rare diseases still do not have treatments; some experts estimate that less than five percent have FDA approved therapies. What we do have—and what we need to continue to capitalize on—is the momentum we’ve gained through collaboration between patients, disease organizations, and research groups.

Health 2.0 technologies have altered the trajectory of rare disease research and advocacy. For example, patients have utilized the Internet and social media platforms to participate and encourage enrollment in clinical trials, to push for increased funding, and to exchange resources on treatments and providers. From crowd-sourced funding for rare disease research projects to innovations in genome sequencing for rare diseases, the prospect of more timely and accurate diagnoses and effective treatments is slowly coming into focus.

Knowing I had PCD meant I was able to integrate preventive measures, like daily chest physiotherapy, and more effective drug therapies, into my daily regimen. My quality of life improved, as did my productivity. I am grateful for the knowledge I have, and the clinical research into PCD that may someday make it easier to diagnose it.

Yet for as much as our quality of life and survival depend on research and funding, there is a significant emotional component to living with rare diseases—or any illness that healthy people might not know or understand. It’s this aspect of awareness that resonated with me when I read the Op-Ed on living with dystonia. I am all too familiar with the questioning looks and sideways glances Hersh London mentions getting when she is in obvious pain when I cough in public or struggle to breathe.

She writes, “It matters when those of us struggling with little-known illnesses keep talking and keep answering the puzzled expressions of people in grocery lines.” Perhaps this most basic act of awareness—telling our stories—is the most powerful tool we have.

We've already found power and progress through connecting with each other. The research, the funding, and hopefully, the cures will come, but not if we remain on the periphery. If in telling our stories and un-shrouding the mysteries of rare diseases, we also gain some empathy or understanding, then we’re all the better for it.

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About the Author

Laurie Edwards

Laurie Edwards teaches health and science writing at Northeastern University and is the author of two books on chronic illness.