Last updated 29 Aug 2018, 03:17 AM
On February 28th, worldwide activities promoting awareness of rare diseases converged on Rare Disease Day. Held on the 28th of February, except for leap years when it is held on the 29th, Rare Disease Day was started by Eurordis, a European rare disease organization.
The definition of a rare disorder varies around the world. However, the problems associated with rare diseases - lack of research, lack of funding, lack of knowledge, lack of information, feelings of isolation - are universal.
Rare Disease Day is a moment in time to recognize and reflect on how the rare disease community has moved forward and what challenges still remain.
The activities held to celebrate Rare Disease Day are numerous and varied. Some are important advocacy initiates where rare disease patients and others lobby their government representatives for help. Others are designed for celebration or to raise money. Fun runs in Washington DC, Mumbai and Las Vegas, a movie showing and fashion show in New York, a football tournament in Togo, state and national legislative advocacy events throughout the U.S., educational conferences in Canada, the U.K., Greece, Israel, Australia and elsewhere commemorated the day. In Argentina, there was a walk for rare diseases and a neonatal hospital sponsored face painting to raise the profile of rare diseases.
Patient advocacy groups, clinicians, researchers, hospitals, biopharmaceutical companies and policy makers joined together to build awareness that rare diseases collectively amount to over 7,000 recognized disorders affecting over 350 million people globally. With this growing awareness, the expanding use of genetic diagnostic tools and increasing knowledge of the biology behind many such disorders, comes the hope for new effective therapies to improve the lives of those affected.
Increasingly, biopharmaceutical firms are recognizing that “orphan” rare disease treatments can be good for business. Appropriately, Rare Disease Day 2018 honored the late Henri A. Termeer, who as the CEO of Genzyme brought to market a pioneering rare disease enzyme replacement therapy, Cerezyme, for Gaucher disease over 20 years ago. Multiple companies with an interest in rare diseases supported specific events on Rare Disease Day.
Rare Disease Day will continue to grow each year. The initial day was held in 2008 with event and participation of 18 countries. In 2018, more than 90 counties held events to honor Rare Disease Day. Plan to be a part of it next year. Please visit, www.rarediseaseday.com, for more information, including a lookback at the history of Rare Disease Day through the years.
the US, where 10% of the population is living with a rare disease, Rare Disease Day is recognized during an entire week in Capitol Hill where community members from across the country can come together to lobby, network, and speak with legislators. Other events throughout the nation include a 5K in Las Vegas and a movie screening featuring patients with rare diseases in New York. However, more and more countries are participating in Rare Disease Day for the first time, including Togo and Trinidad & Tobago this year. A football tournament will be played in the capital of Togo to raise awareness of neurofibromatosis while a walk-a-thon and several talks on pediatric rare diseases will be held around Queens Park Savannah in Trinidad.