Why Rare Disease Day Matters

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Rare Disease Day occurs on the final day of February. This year’s Rare Disease Day is the 12th to date, and hundreds of organizations across the world will host activities that raise awareness of rare diseases and how they impact the people who live with them. According to the Rare Disease Day website, one in every 20 people will live with a rare disease at some point during their lifetime.

The definition of a rare disease varies by country. In Europe, a rare disease impacts no more than one in 2,000 people; in the U.S., this figure changes to one in 200,000. Approximately 30 million people in Europe, according to Rare Disease Day’s website, may be living with one of more than 6,000 rare diseases that exist. Four out of every five rare diseases are genetic in origin. Others occur due to bacteria or viruses, environmental or allergenic causes, or are degenerative and proliferative.

It’s this last characteristic — degenerative and proliferative — that most concerns the people behind Rare Disease Day. Since many rare disease symptoms are common, misdiagnosis of rare diseases sometimes occurs. These misdiagnoses can result in treatment for the disease being unduly delayed, and because rare diseases are often degenerative and proliferative in nature, they can disable a person. The sooner a rare disease is identified, the better the prognosis.

The non-profit alliance EURORDIS-Rare Diseases Europe founded Rare Disease Day in 2008. The choice of 2008 for the launch was quite intentional: 2008 was a leap year, so the debut Rare Disease Day took place on February 29, itself a “rare day” due to the nature of leap years. After the European launch in 2008, the US joined Rare Disease Day in 2009; now, more than 100 cities across -close to 100 countries hold awareness events.

Advocates use Rare Disease Day to reach public authorities, policy makers, health professionals, industry representatives, and researchers because these are the people with the most potential to help those living with rare diseases. Educating these figures is vital to Rare Disease Day’s mission because most rare diseases not only have no cure, but they also go undiagnosed.

Rare Disease Day advocates for more easily accessible healthcare for those suffering from rare diseases. Not all patients will have equal access to medical care, which further hinders them from seeking proper treatment. Additionally, due to a lack of scientific knowledge about rare diseases, the options can be limited even when medical experts identify a need for treatment. And when a diagnosis of a rare disease is made, it can sometimes be a misdiagnosis — rare diseases often differ in symptoms from patient to patient.

Although the subject of rare diseases may paint a bleak picture, the movement is making strides to raise awareness and bring hope to those who are living with rare conditions. Rare Disease Day has resulted in improved public health policies, built ties among international parties interested in rare disease research, and strengthened diagnostic and treatment procedures. However, as Rare Disease Day makes sure to point out often, there is always more work to be done — even if this one-day event achieves tons.

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