Building a Movement to Expand Rare Disease Awareness and Research
Education & Research For many, rare diseases sit just below the surface; highlighting the importance of increasing awareness of the ailments that affect families, friends, and most importantly, the individuals themselves.
If you are one of the 30 million Americans — 1 in 10 people, many of whom are children — diagnosed with a rare disease, you face a 95 percent likelihood of having no treatment options. This represents a public health issue.
More common than you might think, rare diseases touch nearly every family across the country. They are often lifelong and life-threatening. Yet together, we can make a difference that will stop rare diseases from interrupting the lives of our loved ones far too soon.
Central to progress is research, the theme for this year’s Rare Disease Day on February 28. Research brings hope to the millions of people living with rare diseases. Too often, after receiving a rare disease diagnosis, patients not only learn that no treatment exists but that no research is being done to help.
This Rare Disease Day, people and organizations across the United States and millions more around the world will come together to raise awareness about the need for research. More than 35 states will host advocacy events with their elected officials. The National Institutes of Health, the largest public funder of biomedical research in the world, will devote an entire day to the topic. Students, doctors and community organizers will gather for countless other events to advance education and to raise awareness.
The results of hope
It is astonishing to see the look on people’s faces when you describe the sheer impact of rare diseases. There are 7,000 rare diseases that, combined, affect 1 in 10 Americans. They are present across the medical spectrum — including rare cancers (more than half of people with cancer are battling a rare cancer), ALS, Cystic Fibrosis and so many more — and 95 percent have no treatment.
“There are 7,000 rare diseases that, combined, affect 1 in 10 Americans.”
While these statistics can be daunting, there is hope. The current state of research in the United States has improved in recent years. Patients are becoming more involved in the process, through clinical trial participation and trial design. Many patient organizations are helping to drive research through natural history studies and patient registries. And it is making a difference.
In 2016, drugs to treat rare diseases account for 41 percent of all new medications. While this is welcome news and progress, there is more work to be done to help the millions more who are still waiting for a treatment.
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.
Recently, the second-ever State Report Card for rare diseases was released and showed that most states are not measuring up on legislative solutions that reduce the burden of rare diseases. These issues will be on the table when advocates meet with legislators for Rare Disease Day and throughout the year.
This Rare Disease Day, we will harness the full power of this inspiring and dedicated community. If you live with a rare disease or are learning about them for the first time, whether you have five minutes or five years, you can make a difference.