The National Organization for Rare Disorders (NORD) announced that Discovery Health and its popular series, “Mystery Diagnosis ‘, will serve as media and program partners for Rare Disease Day on February 28, 2009. This year represents the first U.S. observance of Rare Disease Day, an event designed to call attention to the public health issues associated with rare diseases affecting nearly 30 million Americans and countless others worldwide. NORD and its 145 partner organizations serve as advocates for these patients by helping heighten awareness of their conditions and the need for increased research funding for effective treatments. Information on Rare Disease Day will also be featured on Discovery Health and online on DiscoveryHealth.com.
Discovery Health’s award-winning ‘Mystery Diagnosis’ chronicles the experiences of patients who suffer from conditions outside of the medical mainstream. Often the diseases profiled on ‘Mystery Diagnosis’ are the rare or “orphan” conditions represented by NORD. Each episode features patients who are initially misdiagnosed or undiagnosed altogether due to the uncommon nature of their symptoms and general lack of awareness regarding their conditions.
Ashley Kurpiel of Atlanta has been selected to serve as a patient spokesperson for Rare Disease Day. Featured on the episode of ‘Mystery Diagnosis’ premiering March 2 at 10PM ET/PT, Ashley had her arm erroneously amputated due to a doctor’s misdiagnosis of her rare disease during her childhood. At the age of 3, Ashley was finally diagnosed with Fibrodysplasia Ossificans Progressiva (FOP,) one of the most disabling conditions known to medicine-and through NORD, Ashley’s family connected with one of the world’s leading experts on FOP who has helped the family understand and cope with her condition. Although she was not expected to live past age 10, Ashley is currently 26 years old and leads a very active life despite the crippling disease.
“Far too often, individuals with rare diseases are left to fight for themselves while suffering through multiple misdiagnoses or a lack of effective treatments,” stated Carole Tomko, President and General Manager of Discovery Health. “Discovery Health is proud to join NORD in its efforts to generate awareness of these orphan conditions and raise the quality of life for the patients affected by them.”
This year represents the second Rare Disease Day worldwide, with the U.S., Canada, Australia, and China joining the nations of the European Union in observing the event in 2009. Overall, approximately 180 patient organizations, medical societies, companies developing orphan products, and others, have joined NORD as Rare Disease Day partners. For more information, visit NORD’s Web site at rarediseases.org.
‘Mystery Diagnosis’ is produced for Discovery Health by True Entertainment. For Discovery Health, Alon Orstein is executive producer and for True Entertainment, Steven Weinstock, Glenda Hersh and Stephanya J. Miller are executive producers.