Rare Disease Day: Creating Awareness and Delivering Hope

Rare Disease Day is on the last day in February every year and is a chance to help people understand more about rare conditions. Malaysia has yet to officially define rare diseases although the Malaysian Rare Disorder Society (a voluntary organisation that represents patients and families) defined it as a disease that affects fewer than one in 4,000.

Over the past year, CORD went on a cross-country tour with Canada’s Rare Disease Strategy, which is widely supported by patients, caregivers, clinicians, researchers and industry representatives from coast to coast.

On an annual basis, Rare Disease Day takes place on the last day of February.

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 worldwide campaign.

“Thankfully for rare disease patients in Canada and around the world, many companies like those that are members of BIOTECanada are developing breakthrough medicines and therapies to address the unique medical needs associated with rare disorders”. So Alexion Pharmaceuticals is using the rare calendar occurrence to raise awareness of the existence of rare diseases and conditions. Europe has about the same number, according to Globalgenes.org. Other facts: Eighty percent of rare diseases are genetic in origin, and thus are present throughout a person’s life, even if symptoms do not immediately appear. These tend to be the rare diseases that occur most frequently.

This year’s Rare Disease Day slogan is “Join us in making the voice of rare diseases heard”, which appeals to a wider audience, those that are not living with or directly affected by a rare disease, to join the rare disease community in making known the impact of rare diseases.

“People living with Ehlers-Danlos Syndrome and other rare diseases face enough challenges on a daily basis that finding the right care and support in Ontario shouldn’t be one of them”, the minister said.

For an estimated 30 million Americans that means living with a malady that boasts no ribbons, no fun runs and no research. Thirty percent of children with rare disease will not live to see their 5th birthday. About 100 rare diseases have been reported in Viet Nam. It can be very hard to have a rare disease that people don’t know very much about.

This is an example of the important role that smart public policy can play in supporting innovation and incentivizing the enormous amount of private investment that is required to get a new drug or therapy to patients. Attendees are invited to wear “something one-of-a-kind” and buy a “Wear Something Rare” button to show support for the cause.

Medical and scientific knowledge about rare diseases is lacking.

Few of the diseases have specific medicines for treatment, which are also mostly expensive and time-consuming. It is hoped that, together with the taxonomy, the new online resource will also help facilitate research to improve understanding of the pathology of these diseases.