Every year, “Rare Disease Day” is observed on February 28. Observed on the last day of February, the campaign aims to raise awareness among the general public and policy/decision-makers about different types of rare diseases and their impact on patients’ lives. A rare disease is any disease that affects a small percentage of the population. Also called orphan disease, the condition can be quite difficult to diagnose and even more difficult to understand. It is defined differently in different parts of the world. In Europe, a rare disease is one that affects fewer than one in 2,000 people and in the United States, the general standard is 1 in 200,000. Majority of the conditions are genetic in origin and thus are present throughout a person’s entire life, even if symptoms do not immediately appear. In other cases, the condition may occur due to infections, and environmental or degenerative factors. Treatment for many rare diseases is insufficient, as are the social networks to support individuals with rare diseases and their families. Accurate documentation of rare diseases is vital to ensure proper patient care and physician reimbursement.

Physicians treating different types of rare diseases can consider using outsourced medical billing services for a streamlined billing experience.

The 2021 campaign is focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. It is estimated that 50 percent of people affected by rare diseases are children. The campaign acts as a strong platform to generate widespread awareness about rare diseases among the general public as well as policymakers, public authorities, industry representatives, scientists, and health professionals. Building awareness is very important as 1 in 200,000 US people lives with a rare disease at some point in their life. There is no specific cure for the majority of rare diseases and many go undiagnosed.

The one-day campaign would generate public awareness about rare diseases while encouraging researchers and decision makers to address the needs of those living with these types of diseases. It aims to increase equity for patients and their families as it concerns diagnosis, treatment, care, and social opportunities. As mentioned above, there are different types of rare diseases and some of the common types include – Fibrodysplasia ossificans progressiva (FOP, commonly known as Stoneman Syndrome), Hutchinson-Gilford Progeria syndrome (HGPS), Microcephaly, Angelman syndrome and Paraneoplastic Pemphigus. Physicians treating rare diseases must correctly document the symptoms, screening tests and other procedures using the right medical codes. Billing and coding services offered by a reputable medical coding company can help physicians with their documentation needs. ICD-10 diagnosis codes for common rare diseases include –

  • M61.1 – Myositis ossificans progressiva
  • E34.8 Other specified endocrine disorders
  • Q02 Microcephaly
  • Q93.51 Angelman syndrome
  • L10.81 Paraneoplastic pemphigus

Founded by the European Organisation for Rare Diseases (EURORDIS – Rare Diseases Europe) and its Council of National Alliances – the first Rare Disease Day was observed in the year 2008 on February 29 – a rare date that occurs only once in four years. Since then, Rare Disease Day is observed on the last day of the month of February. The Eurordis-Rare Diseases Europe – is a non-profit alliance of 956 patient organizations from 73 countries that work together to improve the lives of millions of people living with a rare disease in Europe. The campaign that at first started as a European event has progressively become a world phenomenon, with the USA joining the effort in 2009 and participation of 94 countries all over the world in 2018.

The basic goal behind this one-day observance is to bring patients and advocates together to spread the message that millions of people around the world living with rare and undiagnosed diseases need early diagnosis, safe and effective treatments, and access to medical care and other critical services. The “Zebra” is the official U.S. symbol of rare diseases – its distinctive markings symbolizing both individual uniqueness and community commonality.

Each year, since the beginning of the campaign, there have been thousands of events ranging from races and walks to art exhibits and workshops – to bring attention to policy makers and inspire change within the community. Individuals observing “Rare Disease Day” can participate in walks and press conferences, gatherings, and campaigns and organize fundraising events and campaigns. The day also includes an open session of the European Parliament specifically dedicated to discussing policy issues relating to rare diseases. Historical monuments such as Colosseum and the Empire State Building will spread the message of solidarity and provide hope to millions on February 28 by lighting up with iconic pink, blue and green colors. Patients and caregivers can actively participate in the campaign and show their solidarity by posting stories, photos and video testimonials on the Rare Disease Day website (rarediseaseday.org). They can show their stout social media presence by using the hashtag #RareDiseaseDay and tagging @rarediseaseday via different social media platforms like Facebook, Twitter, and YouTube.