Rare Disease Day: Raising awareness and empowering advocates

Research!America

Today, February 29, 2016, is not only a special day because it's leap day, but also because it is Rare Disease Day. Taking place on the last day of February every year, Rare Disease Day is a chance for the rare disease community to come together and raise awareness to the public and to policymakers about rare diseases and their effects on people’s lives around the world. This campaign brings together over 80 countries worldwide in the effort to find cures and advocate for more research and development, and is sponsored by the National Organization for Rare Disorders (NORD), as well as the European Organization for Rare Disorders (EURODIS).

This year's theme is “Patient Voice,” identifying the most important aspect of any disease awareness advocacy: the patient. It’s the patient that ultimately bears the weight of these often brutal diseases, and it’s the patient that should be at the forefront of the conversation when discussing policy options.

One such patient is 18-year old Max Hasenauer, a patient with a condition known as X-linked agammaglobulinemia (XLA). XLA is a rare genetic condition where the body does not produce the antibodies necessary to maintain a functioning immune system. When Max was less than 2 years old, he got a scratch on the playground. Because of his condition, the small scratch became life threatening, as Max’s body was not able to fight off the infection. Because of his XLA, common illnesses become very dangerous for his body. In order to survive, Max takes antibiotics daily and receives infusions of new antibodies every three weeks, and in the days leading up to his infusion, he feels fatigued and ill as the old antibodies wear off and his body struggles to fight off infections. Even with the antibody treatment, Max must carefully monitor his body to make sure he’s not infected by viruses or other common sicknesses. This makes daily life difficult for Max, as he must return home from college every three weeks to receive his antibody infusion, and must miss time during the flu season.

Despite these setbacks, Max would not be alive today without the research that made his infusions possible. A strong alliance between the National Institute of Health (NIH), nonprofit research institutions, and biotechnology companies have all helped advance treatments. As Max’s younger sister Amanda shared, “I support medical progress because I wouldn’t have my brother without it!”

Given that rare diseases affect approximately 30 million people in the United States alone (almost 1 in 10 Americans), stories like Max’s are all too common. The “Patient Voice” theme highlights an important aspect of health policy: in order to help tip the scales for research, patient groups must come together and advocate to their elected officials. With only a few hundred FDA-approved treatments for almost 7000 known rare diseases, the need could not be greater. With strong collaborations and private and public partnerships, such as the NIH’s Therapeutics for Rare and Neglected Diseases program, medical progress can be accomplished. But in order to help make this possible, research must come to the forefront of the national conversation.

On this Rare Disease Day, we ask you to call your local, state and federal officials to advocate for more research and more efficient treatments. Help trend #RareDiseaseDay on Twitter today, to increase global awareness and connect individuals, researchers, and organizations together in the fight against rare diseases. Lastly, join Campaign For Cures, and let the candidates know about the importance of medical research during this year’s election season.

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If concerted, long-term investments in research are not made, America will lose an entire generation of young scientists.
Brenda Canine, PhD; McLaughlin Research Institute, Montana