Beyond Awareness: The Fight Against Rare Diseases

Did you know that February 28 is Rare Disease Day? Probably not, despite the fact that more than 700,000 classified rare disorders affect nearly 30 million Americans. Whether it’s finding specialists who can diagnose us, advocating for our needs, or getting effective medications when blockbuster drugs get much of the funding, rare disease patients live beyond the fray in many senses.

A rare or orphan disease is one that affects fewer than 200,000 people. Nearly 80 percent of rare diseases are genetic; mine is a genetic respiratory condition called primary ciliary dyskinesia, or PCD. My cilia, the tiny structures lining the respiratory tract that clear debris, do not work, leading to infections, decreased oxygenation, and long-term lung damage. Like so many rare diseases, physicians don’t always know to look for PCD, and the diagnostic process is slow and challenging. Only about 400 of the estimated 25,000 Americans thought to have PCD have been correctly identified. I’ve been sick since birth, but I was 23 before I was accurately diagnosed.

Knowing I had PCD didn’t change the symptoms I’d lived with forever, but for once, my label reflected my experiences. Scores of rare disease patients with misdiagnosis stories can attest that this is no small feat. Yet even with a diagnosis, we often remain on the medical periphery. I’ve often had to both spell and define my condition to health care providers when I am hospitalized, even when in the emergency room in respiratory distress, and many times, I represent the only time they will see a PCD patient in their careers. When my doctors wanted information on PCD and pregnancy, available research was so scarce we had to instead extrapolate what we could from other diseases with more robust data.

I’ve been sick since birth, but I was 23 before I was accurately diagnosed.

In a culture that places such a premium on “beating” illness and survivorship, our notion of survival is more subtle and nuanced. It entails ongoing adaptation, and is as fluid as our disease progression and symptoms are. Some days, it means making it out of bed, or getting through the workday, or getting discharged from the hospital. These incremental victories are quiet, and they go largely unnoticed.

Big-name diseases have their own attendant awareness months and marketing campaigns (think pink ribbons for breast cancer). We’ve become similarly accustomed to the direct-to-consumer advertising of big-name drugs: glossy magazine ads for cholesterol medicines and distinctive jingles for sleeping aids. But as the patents run out on these heavily marketed blockbuster drugs, the cheaper generic versions cut into profits. Despite their small size, rare disease populations are suddenly more attractive: rare medications come with an enormous price tag, and treatment for previously unmet medical needs typically receives high reimbursement from insurance companies.

The Orphan Drug Act, which was first enacted in 1983, provides financial incentives for companies to develop drugs for rare diseases. According to NORD, the National Association for Rare Disorders, in the decade prior to the Orphan Drug Act, only 10 drugs total had been developed for rare diseases. In the intervening years, more than 2,700 potential treatments have entered the research pipeline and the FDA has approved more than 400.

According to a recent New York Times analysis, the orphan drug market was worth more than $50 billion in 2011. Biotech companies like Cambridge-based Genzyme, now owned by Sanofi, are known for their work in orphan drug development, and other more traditional pharmaceutical companies like Pfizer are starting to invest in it, too. Now, nearly 2,000 research projects in the pipeline target rare diseases.

Our population is only going to continue to grow. Patients with serious childhood illnesses are living longer into adulthood and having their own children. We are connecting with each other via online groups and social-networking sites, and enrolling in clinical trials.

On Rare Disease Day, many of these patients from more than 60 countries will participate in activities to raise consciousness of rare diseases. However, the real value in awareness is when broader cultural recognition is a complement to research and innovation, not the end goal itself. The recent upswing in pharmaceutical innovation for orphan drugs underscores this, and from refined testing and timely diagnoses to more effective treatments, we need this momentum to translate into ongoing access to appropriate care.

Related: