The impact of rare diseases

rare-disease-dayIn the U.S., any disease affecting fewer than 200,000 people is considered rare. Today, the last day of February is Rare Disease Day, an international advocacy day to spread awareness of rare diseases and their impact on patients’ lives.

There are nearly 7,000 rare diseases affecting 25 million Americans and 400 million people worldwide. At least 50% of these rare diseases affect children. Rare diseases include many birth defects, genetic disorders and chromosomal abnormalities.

A patient with a rare disease may face severe health outcomes including physical and intellectual disabilities and premature death. Often the lack of scientific knowledge and information on a rare disease can result in a delay in diagnosis. In addition, a rare disease not only affects the individual; it affects an entire family.

Rare Disease Day aims to raise awareness not only to the public, but amongst policy makers, public authorities, researchers and health professionals.  Many advancements in national plans and policies related to rare diseases has been attributed to the awareness that this day has cultivated. There is still much to do, but progress is being made every day toward the development of knowledge, research and treatment advances for rare disease patients.

Do you or someone you know have a rare disease? Feel free to share your story with us.

 

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