International Rare Disease Day 2014: Joining Together for Better Care

The last day in February marks the annual International Rare Disease Day, first celebrated in 2008 by European coordinators the European Organization for Rare Diseases (EURORDIS).  For the past five years, the United States has participated in this effort thanks to the hard work of the National Organization for Rare Disorders (NORD) and other committed alliances and patient advocacy groups.

Rare diseases are classified in the U.S. as illnesses affecting fewer than 200,000 individuals – about 0.005% of Americans.  These patients and their families often struggle to be heard and there are major gaps in research on treatments and cures due to the small percentage of the population impacted by these diseases.  However, advocacy groups across the nation, often coordinated by patients and their families, are leading the way to increase the voice of those with rare diseases and to ensure research on these illnesses receives well-deserved funding.  Three examples include:

  • The Progeria Research Foundation has been fighting to increase awareness and support of Progeria since 1999.  Hutchinson-Gilford Progeria Syndrome (HGPS, Progeria) is a disorder that causes accelerated aging that eventually leads to pre-mature death due to heart disease.  Drs. Leslie Gordon and Scott Berns, along with their son Sam who passed away in January from the syndrome, have been vocal advocates on Capitol Hill and were featured in the recent HBO special “Life According to Sam.”  Funding raised by PRF contributed to the 2012 discovery of the first-ever treatment for children with the lethal disease.  The Progeria Research Foundation will be honored by Research!America with the Paul G. Rogers Distinguished Organization Advocacy Award on March 12, 2014.
  • The Jackson Gabriel Silver Foundation was founded in 2010 with the mission to find treatments and cures for Epidermolysis Bullosa (EB), which affects approximately 30,000 individuals in the United States. It is a connective tissue disorder causing very fragile skin that is easily torn; the varieties of EB range in severity and can cause death before the age of 30.  EB patients fighting the painful, pervasive, and debilitating disease are often referred to as “butterfly children” as their skin is “as fragile as the wings of a butterfly.”  JGSF works tirelessly to raise funds that support global research and continues to bring much needed attention to the disease through national media coverage, testimony on Capitol Hill, and beyond. The Foundation has been honored for its commitment and leadership role in fostering excellence in rare disease research.
  • Kids v. Cancer can be counted as one of the champions of rare childhood brain, blood, and central nervous system cancers.  The group’s determined advocacy and supporting network secured the inclusion of the Creating Hope Act in the 2012 FDA Safety and Innovation Act, instituting landmark provisions to allow Priority Review Vouchers for pediatric diseases.  This change helps to speed the progress of new drugs through the FDA’s Investigational New Drug process, translating basic research to innovative, life-saving therapies for children with cancer.

Research!America supports the efforts of those fighting against rare diseases and urges more support for research into treatments and cures.  Show your support for rare diseases by joining the conversation on Facebook and Twitter (@rarediseaseday, #RareDisease).

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