Rare Disease Awareness Day

Shining a Light on the Unseen

Rare diseases are conditions that affect a small percentage of the population. Collectively, they impact millions of people globally. Launched in 2008 by Rare Diseases Europe (EURORDIS), Rare Disease Awareness Day is observed on the last day of February. When fewer than 1 in 2000 people are affected, the disease is called rare. Rare is not rare. There are ~300 million people with rare diseases. 70% of rare diseases start in childhood. More than 6000 rare diseases are identified. 72% of rare diseases are genetic. The proper treatment and diagnosis are still a struggle for rare disease patients as the conditions are not well understood. Stories narrated by individuals bearing the burden of such rare diseases motivate others and testify to their strength and resilience. Not Too Rare to Care.

For those living with rare diseases,
awareness is a powerful tool.

Rare diseases are conditions that affect a small percentage of the population. Collectively, they impact millions of people globally. Launched in 2008 by Rare Diseases Europe (EURORDIS), Rare Disease Awareness Day is observed on the last day of February. Bringing together people from more than 100 countries to raise awareness, foster solidarity and advocate support and care for patients and families.   

Rare is NOT Rare

When fewer than 1 in 2000 people are affected, the disease is called rare. There are ~300 million people with rare diseases, 3.5-5.9% of the population. Due to the size of the population, countries like China and India have the highest absolute numbers of people living with rare diseases. 70% of rare diseases start in childhood. More than 6000 rare diseases are identified. 72% of rare diseases are genetic.  

The lack of scientific knowledge and reliable information on rare diseases often leads to delays in diagnosis. The need for high-quality, specialised healthcare creates inequalities and barriers to accessing treatment and care. The vast diversity of rare disorders and relatively common symptoms make misdiagnosis common. The treatment options are often limited, highlighting the need for continued research.

Not Too Rare to Care

The most prevalent rare diseases are Ehlers-Danlos Syndrome (A group of disorders affecting connective tissues), Sickle Cell Disease (causing red blood cells to become misshapen and break down), Cystic Fibrosis (affecting the lungs and digestive system), Duchenne Muscular Dystrophy (progressive muscle degeneration and weakness), Haemophilia (impairing the blood’s ability to clot, leading to excessive bleeding). Some of the more commonly recognised rare diseases in India include Gaucher Disease (accumulation of fatty substances in specific organs and tissues), Thalassemia (blood disorder involving less than usual amounts of an oxygen-carrying protein), Pompe Disease (buildup of a complex sugar called glycogen in the body’s cells). Even with advanced medical diagnosis, rare diseases take four to five years. The proper treatment and diagnosis are still a struggle for rare disease patients as the conditions are not well understood.

Sharing personal stories, is one of the most potent aspects of the observation of the Rare Disease Day

Globally, the financial burden of rare diseases is immense. Individuals and families are coping with the rarity, taking it into stride and creating support systems to handle it. Stories narrated by individuals bearing the burden of such rare diseases motivate others and testify to their strength and resilience. They emphasise the importance of awareness, support, and advocacy in improving the lives of those affected. Sydney Collier, a Paralympian equestrian, was told at seven years old that she wasn’t supposed to be alive due to her rare condition. Defying the odds, she achieved her dream of competing in the Paralympics. Many such stories should inspire many without any such challenge but still not doing the best they can do in their lives. Ayurveda offers various treatments that may help manage symptoms of certain rare diseases.

The zebra, often associated with the movement, represents the uncommon nature of these diseases. In medicine, the phrase “When you hear hoofbeats, think of horses, not zebras” reminds doctors to consider common diagnoses first. However, for rare disease patients, being a “zebra” means their conditions are often overlooked.

Toon: Shreya Sreehari
Logs: M Sai Baba
ToonLogs