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There are about 7000 rare diseases identified
in the United States. About 80 percent of rare diseases are genetic in origin
and it is estimated that about half of all rare diseases affect children. Rare
diseases can be chronic, progressive, debilitating, disabling, severe and
life-threatening. Information is often scarce and research is usually
insufficient. People affected face challenges such as delays in obtaining a diagnosis,
misdiagnosis, psychological burden and lack of support services for the patient
and family. The goals remain for rare disease patients to obtain the highest
attainable standard of health and to be provided the resources required to
overcome common obstacles in their lives.
Rare Disease Day is celebrated around the world to raise awareness among decision-makers as well as the general public regarding rare diseases and their impact on patients’ lives. The NIH celebrates Rare Disease Day to:
Rare Disease Day is celebrated around the world to raise awareness among decision-makers as well as the general public regarding rare diseases and their impact on patients’ lives. The NIH celebrates Rare Disease Day to:
- Demonstrate
and reiterate the NIH commitment to rare diseases research to help
patients
- Highlight
rare diseases research, and the development of diagnostics and treatments,
being funded and conducted across NIH
- Initiate
a mutually beneficial dialogue among public and private researchers,
patients, patient advocates and policy makers
- Exchange
the latest rare diseases information with stakeholders to advance research
and therapeutic efforts
- Put
a face on rare diseases by sharing stories of patients, their families and
their communities
The first Rare Disease
Day sponsored by EURORDIS was held in Europe on February 29, 2008. February
29th was chosen since it is a rare day and it is symbolic of rare diseases.
2009 was the first time that Rare Disease Day was observed in the U.S. In
addition to 17 European countries participating in Rare Disease Day 2009, the
United States was joined by Argentina, Australia, Canada, China, Colombia, and
Taiwan in celebrating the first global Rare Disease Day.