Supporting Patients on Rare Disease Day, and Every Day

Rare Disease Day recognizes the 400 million people worldwide – and 30 million in the United States – who are living with a rare disease. While significant progress has been made in understanding rare diseases and developing treatments, the need for continued awareness, research and support is as great as ever. That’s why it's incumbent upon us to work not only on Rare Disease Day, but every day, to address the societal and policy challenges impacting the health and care of people living with rare diseases.

In the United States, rare diseases are defined as conditions that affect fewer than 200,000 people. While there are over 10,000 different rare diseases, less than 10% of them have an FDA-approved treatment. Living with a rare disease presents unique challenges due to the limited attention these conditions receive compared to more common diseases. This lack of awareness results in a diagnostic journey that can take five years or more, involve visits to numerous specialists, and affect patients across socioeconomic and geographical backgrounds. Additionally, many rare diseases are difficult to detect, leading to frequent misdiagnoses.

Living with a rare disease can complicate nearly every aspect of someone’s life, both before and after diagnosis. People living with a rare disease and their caregivers often face economic hardship and greater social isolation. Studies have shown that the economic cost of living with a rare disease is significantly higher than the average annual per-person health care expenditure of people without one.

Championing Change Through Unyielding Commitment and Collaboration

We know that with thoughtful legislation and the right regulatory environment, rare disease patients can benefit. We are joining together with government leaders, rare disease patients and their families, and other health care stakeholders to create sound policies that reduce the diagnostic odyssey, encourage the development of innovative new therapies, and improve access to those medicines. By working together, we can build the framework needed to improve outcomes for the rare disease community:

Increasing Awareness: By shining a light on rare diseases and the specific needs of people living with them, we can help policymakers understand the importance of developing policies and dedicating substantial resources to rare diseases. On the federal level, passage of legislation like the ORPHAN Cures Act, which would encourage continued research into rare disease treatments, and renewal of the Rare Pediatric Priority Review Voucher can help to ensure that rare disease research remains a priority.

Prioritizing Health Equity: We should commit to investing in the infrastructure, technology, innovation and policies needed to better care for rare disease patients and improve their quality of life. It’s also important to recognize the value of new therapies for treating rare diseases.

Shortening the Diagnostic Odyssey: State legislation has improved access to rapid whole genome sequencing for undiagnosed, critically ill children, significantly reducing the time it takes to reach a diagnosis. We must continue to enhance diagnostic capabilities and establish referral systems to help patients access the care they need.

Improving Access: We must improve funding and prepare policies that foster timely access to innovative treatments—those already available, those researchers are working on right now, and those we’ll explore in the future.

Empowering the Patient Community: Patients and their loved ones know their diseases best; therefore, we should leverage their expertise and meaningfully engage them in health care policy and reimbursement decisions to ensure their needs are being met.

Rare Disease Day is an opportunity to recognize what all stakeholders have achieved to date while also acknowledging we still have progress to make. We applaud the efforts of patient organizations across the country that have been instrumental in bringing rare disease patients to the table and educating stakeholders about the unique issues they face. We call on policymakers, health care providers, individual patients, advocates, and others to join us in taking action to achieve the goals outlined above.

The rare disease community is “more than you can imagine,” and we are determined to make a difference. People living with rare diseases and their families across the United States are counting on us. Let’s put in the work, today and every day.