Rare Disease Day is a worldwide observance held on the last day of February to raise awareness of rare diseases. The Orphan Drug Act defines a rare disease as a disease or condition that affects less than 200,000 people in the United States. These diseases can range from benign to debilitating, including Huntington's, Crohn’s, and Fragile X syndrome.
Though diseases may not often be associated with disabilities, many disabilities can be caused by diseases. Crohn’s disease, for example, can cause debilitating symptoms that may prevent a person from working or enjoying day-to-day activities they might have enjoyed without the condition.
For this reason, it’s important to be aware of rare diseases and how they might impact people’s lives.
Why Rare Diseases Day?
The Food and Drug Administration (FDA) states: “Many rare conditions are life-threatening, and most do not have treatments.” Because these diseases are rare, with a small number of people suffering from them, it makes conducting clinical trials difficult and finding funding equally challenging. Research is needed to find treatments or cures for diseases, which is hard to come by with rare diseases.
Raising awareness of these diseases will help find funding for research, spread information on what these diseases are like, and build support for people with these diseases who may feel isolated. Like other common awareness moments, like Breast Cancer Awareness Month, Rare Diseases Day is a reminder that rare diseases exist and await cures. It is not a day for celebration but for raising awareness: the greater the awareness, the greater the likelihood of finding cures, treatments, and support.
Orphan Drug Act
In 1983, President Reagan signed the Orphan Drug Act into law. It had bipartisan support and aimed at easing the lives of people with rare diseases, which it has helped do for the past forty years. The Orphan Drug Act incentivized drug companies to spend more money on research and development therapies for rare diseases.
Before this Act, people with rare diseases were “orphaned” by the medical community and pharmaceutical companies, who did not view them as good ways to make money. In the opening hearings for the Orphan Drug Act, Representative Henry Waxman stated: “For the rest of us who believe that people with rare diseases suffer no less and are no less deserving because they are so few, this situation is intolerable. It must be changed.”
The Act's signing sparked not only forty years of activism but also Rare Disease Day and the creation of the National Organization for Rare Disorders (NORD). Even though much work remains, and many people still suffer from rare diseases, the outlook is much more positive than it would have been without the Orphan Drug Act.
Outlook
As with most things, scientific progress on rare diseases could be faster. Magical cures do not exist, but progress is being made in many different ways. Congress’s 2022 year-end legislative package included several things that the rare disease advocacy community and NORD have fought for, including strengthening the FDA’s accelerated approval pathway, re-authorizing the Orphan Products Grants Program, and diversifying clinical trials.
Johnson & Johnson may have the first approved treatment for a rare disease called Hemolytic Disease of the Fetus and Newborn (HDFN), a highly fatal disorder in the past. Research is increasing, uncovering the causes behind rare diseases which were unknown before now.
Thanks to increased awareness because of events like Rare Diseases Day, science is improving, and the outlook on rare diseases is positive. Before the signing of the Orphan Drug Act sparked the wave of activism the outlook on rare diseases was not as positive as it is now. However, it can be safely said that that is changing.
Conclusion
Rare Diseases Day is a worldwide day of observance held on the last day of February to raise awareness of rare diseases. Rare diseases often have no treatments or cures, but the outlook is slowly improving thanks to increased awareness and activism.
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