Rare Disease Day 2016 Observed Feb 29 Raises Critical Awareness During Leap Year

By Julie Brown Patton
Rare Disease Day 2016
Rare Disease Day 2016 is being observed Feb. 29, with one of the virtual activities being Handprints Across America, hosted by The National Organization for Rare Disorders. Rare diseases affect one in 10 Americans. Ian (shown here) is 10 years old, and has Pitt Hopkins Syndrome (PTHS). PTHS is characterized by developmental delays, gastrointestinal issues, often times lack of speech, hyperventilation/apnea, seizures and distinctive facial features.  NORD

Rare Disease Day is being observed in special ways on Feb. 29 during Leap Year to raise awareness about the variety of more uncommon medical conditions that affect one in 10 Americans. The National Institutes of Health defines a rare disease as any that affects less than 200,000 people at a given time. Nearly 7,000 rare diseases currently affect nearly 30 million Americans. 

Approximately 50 percent of people affected by rare diseases are children, and 30 percent of children with rare diseases do not live to see their fifth birthdays. In fact, rare diseases are responsible for 35 percent of deaths in the first year of life.

One example of such a medical infliction is a life-limiting genetic disease known as Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder (PBD-ZSD). Families often have trouble getting access to life-saving medical treatment or other services because their insurance, medical, elected and other officials may not be familiar with their diseases.

Besides dealing with specific medical problems, people with rare diseases struggle to get a proper diagnosis, find information and get treatment. The rarity of their conditions makes medical research more difficult.

On an annual basis, Rare Disease Day takes place on the last day of February. The 2016 global theme, "Patient Voice," recognizes the crucial role that patients play in voicing their needs and in instigating change that improves their lives and the lives of their families and careers, according to organizers.

The National Organization for Rare Disorders (NORD) is the official Sponsor of Rare Disease Day in the United States along with sister organization, EURORDIS (The European Organization for Rare Disorders), which organizes the official international campaign.  More than 80 countries participated in Rare Disease Day 2015.  

NORD will co-sponsor a tweetchat on March 1 regarding the topic of rare diseases with Dr. Richard Besser, chief of the ABC News Medical/Health Unit. NORD will be live tweeting with Besser from @rarediseases and @RareDayUS (a Twitter feed dedicated to Rare Disease Day). Marsha Lanes, MS, CGC, NORD's genetic counselor and medical educator, will be providing answers through both Twitter handles.

Rare Disease Day was first observed in Europe in 2008. 

Anyone can help observe this event by virtually plugging into NORD's fourth annual "Handprints Across America" campaign. Submit photos to the Handprints Across America Gallery to show people acknowledging Rare Disease Day all across the United States in a variety of settings.

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