Rare Disease Day 2012

by C. McNamara Romanowski

The Evans Syndrome Community Network, headquarted in Des Moines, Iowa, joined the National Organization for Rare Disorders (NORD) and others around the world in observing Rare Disease Day on February 29, focusing attention on the needs of patients and families affected by rare diseases.

“This [was] a global observance,” said Peter L. Saltonstall, president and CEO of NORD. Individuals and organizations around the world use the day each year to share with others their experiences and how rare diseases affect their lives.

The challenges of living with a rare disease 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 United States, any disease affecting fewer than 200,000 Americans is considered to be 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). The Evans Syndrome Community Network is one of those partners.

The Evans Syndrome Community Network on Facebook is open to anyone diagnosed with Evans Syndrome (ES), as well as those whose lives have been touched by a person with ES. The organization hopes to provide a way of networking with other ES people, as well as good information, and mental and emotional support. Their motto is: "You can make a difference, standing shoulder to shoulder."

Evans Syndrome is an uncommon condition defined by the combination (either concurrently or sequentially) of an attack on two or more lines of blood, including red blood cells (Autoimmune Hemolytic anemia), platelets (Ideopathic Thrombocytopenia or ITP), and white blood cells, also known as leukocytes. This occurs when the immune system mistakenly targets these cells for destruction, and the spleen subsequently destroys them. Autoimmune cytopenia can be a sign of systemic autoimmune disease, such as Lupus or other connective tissue disorder, and the patient should be tested appropriately. (Mikhail Shtivelband, MD, PhD, and http://www.ncbi.nlm.nih.gov/pubmed/16398647)

Each year, a global planning team selects a theme for Rare Disease Day. The theme for 2012 was “Rare but strong together.”

Rare Disease Day activities in the U.S. included 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 took place, 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.