Does a “Rare” Problem Deserve a Rare Solution?
Advocacy If you are one of the 30 million Americans—1 in 10 people, the majority of whom are children—diagnosed with a rare disease, you face a 95 percent likelihood of having no treatment options.
Rare diseases are a public health issue. They cause heartache and hardship for individuals and families across the country that no one is immune to. Yet together, we can make a difference that will stop them from ending and altering the lives of our loved ones far too soon.
Central to progress is an active patient voice, the theme for this year’s Rare Disease Day on February 29. For patients and the people who love them, we can be our own best advocates by educating doctors and researchers, forming and joining strong patient organizations, driving research, sharing stories with media and informing our elected officials.
Too often after receiving a diagnosis, patients face not only a lack of available treatments but also the fact that no research exists for their rare disease. In recent months, the U.S. Food & Drug Administration (FDA) and National Institutes of Health (NIH) have demonstrated increased commitments to eliminating these challenges by expanding research that incorporates the patient voice and accelerating drug development through translational science.
As the leading patient advocacy organization for more than 30 years, we see how the environment for orphan drug development has never been more positive. This is a result of collaboration for many years by the entire stakeholder community—government, industry, academia, investors and patients.
"As we continue our efforts on achieving medical advances, we must also make sure patients can access and afford them."
Last year, the FDA approved more orphan drugs to treat rare diseases than ever before. The Precision Medicine Initiative promises to unlock biological understanding of what causes certain illnesses. And Washington is working in bipartisan ways to help through the 21st Century Cures and Senate Innovation for Healthier Americans initiatives, plus the recent Omnibus bill that passed to keep the government open includes several provisions we have advocated for, including one to help children.
Patients have much-needed hope that new, life-saving treatments will become available. Others who are still in search of diagnoses can visit six new, regional centers in the NIH’s Undiagnosed Diseases Network. And doctors and medical students show growing interest in learning about rare diseases, eliminating one of the critical issues in that it still takes too long (an average of 5-7 years) to receive an accurate diagnosis.
As we continue our efforts on achieving medical advances, we must also make sure patients can access and afford them.
Increasingly, state leaders are playing a role in the services and products available to patients. It is important to know if your state is doing enough. This fall, the first-ever State Policy Progress Report for rare diseases explained the inconsistencies between states and provided a road map for improvement. These issues will be on the table when advocates meet with legislators at State House Events around the country for Rare Disease Day.
By becoming an advocate for rare diseases, you are helping to increase awareness about issues that affect nearly every family in this country—awareness that is critically needed to continue advances in the field.