Address: At the Rare Hub, 1012 14th Street NW, Suite 500 Washington, DC 20005

Rare Disease Day – A History

On the last day of February each year, the United States joins more than 100 countries around the world to commemorate Rare Disease Day, which was first launched in 2008 . This year the rare disease community comes together on Sunday, February 28th to remind the world about rare diseases and their impact on patients’ and caregivers’ lives.

In the United States, a rare disease — better known as an “orphan disease” — is defined as a disease impacting fewer than 200,000 Americans . There are currently 7,000 rare diseases that have been diagnosed, which impact 25-30 million Americans . Rare diseases affect more people than AIDS and cancer combined .

In 1983, President Ronald Reagan and Congress enacted the Orphan Drug Act, and scientific discovery took a historic leap forward. This monumental law recognized that due to the relatively small patient populations in need of rare disease therapeutics, there were few financial incentives for companies to invest in the research and development of such medicines. According to the FDA, only 10 medical treatments for rare diseases were introduced in the entire decade before the Orphan Drug Act’s enactment. Under the Orphan Drug Act, the Food and Drug Administration (FDA) instituted the Office of Orphan Products Development (OOPD) to finally give the medical industry the aid and incentive it needed to develop rare disease treatments. Great strides have been made since the implementation of the Orphan Drug Act; therapies for over 900 rare disease indications have been approved, with over 25% of the approvals occurring in the last three years. Rare Disease Day reminds the nation and its policymakers that they must carry forth this tradition of innovation and continue to support the development of treatments for this vulnerable population.

RAAP is looking forward to partnering incoming state and federal policymakers to increase education and awareness on the issues facing the rare disease community.

1 Rare Disease Day, Rare Disease Day 2008, 2021, https://www.rarediseaseday.org/article/rare-disease-day-2008#:~:text=Rare%20Disease%20Day%202008&text=Rare%20Disease%20Day%20was%20created,and%20a%20logo%20was%20created.

2 National Institute of Health Genetic and Rare disease Information Center, “FAQs About Rare Disease,” 2021 https://rarediseases.info.nih.gov/diseases/pages/31/faqs-about-rare-diseases#:~:text=In%20the%20United%20States%2C%20a,adopting%20them%20to%20develop%20treatments.

3 Ibid

4 Ibid

5 Global Genes, “World Rare Disease Day Facts and Stats,” 2016, https://globalgenes.org/wp-content/uploads/2015/12/2016-WRDD-Fact-Sheet.pdf

6 Food and Drug Administration, “Insights into Rare Disease Drug Approval,” 2017: https://www.fda.gov/files/about%20fda/published/Insights-into-Rare-Disease-Drug-Approval–Trends-and-Recent-Developments-%28October-17–2017%29.pdf

7 Food and Drug Administration, “FDA Insight: Rare Diseases and Orphan Products,” 2020, https://www.fda.gov/news-events/fda-insight/fda-insight-rare-diseases-and-orphan-products

Who We Are

We are nearly 30 million men, women and children impacted by diseases that often take 6-8 years to diagnose. Only 5% of the diseases that impact us have FDA-approved treatments.

We are children, 30% of whom won’t live to see their 5th birthday. And we are families, in need of support.

Working Together to Tackle Rare Disease

In the rare disease community, patients must come first and that means policies that prioritize research and innovation, quick and accurate diagnosis, and access to treatments as quickly as possible.

Forward-Thinking Policies

  • Newborn screening

Without newborn screening, years are wasted on diagnosis. Years that should be spent treating patients. Currently there is a patchwork of newborn screening programs throughout the country, that vary on a state-by-state basis. This current system forces many families to fall through the cracks. No child should be sentenced to death by zip code. A national set of best practices is needed to save lives. Having the right tests, approved in a timely manner can mean lives saved.

Learn more about the California family that by chance stumbled upon a diagnosis for their baby when they moved to Utah: https://www.newswire.com/news/first-baby-with-gamt-deficiency-identified-through-newborn-screening-21287165

  • FDA Improvements

It is crucial to have a Food and Drug Administration (FDA) built for innovation. The treatments necessary for rare disease require specialized researchers and reviewers who fully understand rare disease. It begins with recruiting and retaining review staff for complex rare diseases, improving clinical trial design and streamlining the approval process. Congress can act to ensure the FDA has the resources needed to improve the approval process. Legislation like CURES 2.0 and the Speeding Therapy Access Today “STAT” Act will support the efforts necessary to modernize the FDA and develop a Rare Disease Center of Excellence to better understand the mechanisms and modalities of rare disease.

Additional Resources

Many organizations are celebrating Rare Disease Day. Here are a few additional resources to understand the needs of our community:

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