“This is a global observance,”
The challenges of living with a rare disease, he said, include:
Difficulty getting a timely, accurate diagnosis
Too little research
Too few treatments
Reimbursement or other issues affecting access to treatments
A sense of isolation
Difficulty finding medical experts
In the U.S., any disease affecting fewer than 200,000 Americans is considered rare. According to the National Institutes of Health (NIH), there are nearly 7,000 such diseases affecting nearly 30 million Americans.
Studies have shown that it often takes five years or longer to get an accurate diagnosis of a rare disease. In addition, only about 200 of the diseases classified as rare have approved treatments.
Rare Disease Day started in Europe in 2008. It was launched by EURORDIS (Rare Diseases Europe). Last year, it was observed in more than 60 countries, with a national sponsor in each country. NORD is the sponsor in the U.S.
More than 500 patient organizations, government entities, research institutions, and companies developing treatments have signed up as Rare Disease Day Partners on the national website hosted by NORD (www.rarediseaseday.us)
APFED, currently celebrating 10 years as a Patient Advocacy organization, is dedicated to patients and their families coping with eosinophilic disorders. APFED strives to expand education, create awareness, and fund research of these diseases.
A group of uncommon diseases, eosinophil associated disorders are rapidly emerging as a healthcare problem worldwide. Yet many patients suffering from these disorders go undiagnosed for years due to the lack of information or awareness of these disorders.
These disorders are characterized by having above normal amounts of eosinophils, a type of white blood cell, in one or more specific places in the digestive system, tissues, organs, and/or blood stream, which causes inflammation and damage.
Diagnosis can only be made through biopsies of affected areas
These diseases are chronic and often debilitating.
Delays in diagnosis are common and often patients are misdiagnosed.
There is NO FDA approved treatment for most eosinophil associated disorders and there is No Cure!
Rare Disease Day activities in the U.S. will include a “Handprints Across America” campaign to create a gallery of photos on the Rare Disease Day website; educational materials for classroom teachers; and a nationwide blitz of patient photos, stories and videos to increase awareness of specific rare diseases and the challenges of living with a rare disease.
Several special events are planned, including a scientific symposium at the National Institutes of Health (NIH) and a Rare Disease Patient Advocacy Day at the Food and Drug Administration (FDA).
“Since many of these diseases are genetic, more than half of the people who have rare diseases are children” Saltonstall said. “The problems encountered by families are enormous. It’s important for these families to know they are not alone.”
NORD was established in 1983. It provides advocacy, education, research and patient services on behalf of rare disease patients, families, and patient organizations.
For more information about APFED and eosinophil associated disorders, please visit http://www.apfed.org.
For more information about NORD and Rare Disease Day, please visit http://www.rarediseaseday.us
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APFED is a 501(c)3 patient advocacy organization, dedicated to patients and their families coping with eosinophilic disorders. APFED strives to expand education, create awareness, and fund research while promoting advocacy among its members. www.apfed.org