Raising Awareness: Rare Disease Day Insights, Impact & Support

The last day of February is marked as world rare disease day!

It's a day to raise awareness of the over 7,000 rare diseases that affect more than 300 million people worldwide. Rare disease day 2024 aims to increase broad public awareness of rare diseases while encouraging researchers and governments to address the needs of people with rare diseases.               

What Is A Rare Disease?

The European Union defines a rare disease as a rare or serious illness that affects a small percentage of the population, usually less than 1 in every 2,000 persons. These disorders can be persistent, debilitating, and life-threatening, with fewer appropriate therapies. Approximately 80% of these rare disorders are hereditary, and 95% do not have even one FDA-approved medication.

According to the World Health Organization (WHO), the epidemiology of a rare disease might reveal its cause. Any rare disease should have a prevalence of fewer than 6.5-10 per 10,000 persons. Considering India's massive population, a disease is rare if it affects 1 in every 5,000 Indians or lesser. In India, ORDI has listed 263 uncommon diseases. The Organisation for Rare Diseases India (ORDI) is a non-profit firm in India that aims to give a unified voice to all Indian patients suffering from rare diseases. 
 

History Of Rare Disease Day

The European Organization for rare diseases initially launched the first rare disease Day on February 29, 2008. A "rare" date that occurs only every four years. Since then, world rare disease day has been acknowledged on the last day of February, a month recognized for having a less and rare number of days. In 2008, rare disease day was organized by EURORDIS (European organization for rare diseases) and coordinated by 65+ national alliance patient organization partners to promote awareness of various rare diseases in their nations.

Objectives Of Rare Disease Day 2024

The day aims to promote awareness about rare diseases and enhance the availability of therapies and medical representation for people with rare diseases and their families.    

• To demonstrate commitment to assisting people with rare diseases through research.
• Bringing more sponsored research on unusual illnesses, diagnostics, and cures into the spotlight.
• Begin a mutually beneficial discourse among patients suffering from rare diseases.
• To highlight the rare disease research, diagnostics, and treatment

The ability to read the human genome fast and efficiently has resulted in significant progress in determining the etiology of rare diseases.

Rare Disease Day Theme 2024

The theme for Rare Disease day 2024 is "Share Your Colors!" and "Light up for rare." It is a call to patients, governments, global leaders, and all partners in positions of power to work together to erase the stigma associated with people suffering from rare diseases and raise worldwide awareness about the issues these patients confront. Let us light our homes with colors at 19:00 at your local time on 29 february 2024.

Why wear zebra stripes for world rare disease day? Because the zebra has become a symbol of rare disease patients. In 1940, a famous physician Dr. Thomas Woodward taught medical students the dictum "if you hear hoofbeats, think horses, not zebras," because it was said to think but more common diseases first than the rare ones. Later, the perspective was changed to hoofbeats that can come from zebras too. It might be a rare disease. However, 7,000 uncommon diseases have been discovered decades later.

Importance Of Rare Disease Day 2024

These disorders frequently cause severe, chronic illness and disability, as well as early death. Furthermore, uncommon diseases usually affect many organ systems. Although all diseases can cause excruciating pain, rare diseases provide more significant challenges than typical conditions. For all of the mentioned reasons above, advancements in clinical and translational research will dramatically help to increase awareness of the rare disease. 

Challenges In Addressing The Issue

One of the most significant obstacles that persons with rare diseases face is a lack of effective therapies. Many uncommon diseases do not have approved therapies, and even when they do, the treatments may be ineffective or have severe side effects. Genetic abnormalities are one of the primary causes of rare diseases. This is because rare diseases are frequently misunderstood and largely unexplored. 

In addition to these difficulties, patients with rare diseases likely experience social and emotional difficulties. Living with a rare disease may be isolating, and many patients struggle to find support from their families, friends, and communities.

Increasing investment in research and development of treatments for rare diseases is required to solve these issues. This encompasses scientific research to understand better the mechanisms underlying the diseases and clinical research to discover and test new treatments. There is also a need for legislative and regulatory frameworks that encourage the development of rare illness solutions. Many countries' regulatory and reimbursement systems must be built to meet the unique challenges of rare diseases, making novel medicines difficult to market. 

Frequently Asked Questions About Rare Diseases

1. When was the rare disease day established?

In Europe, rare disease day was first recognized in 2008. EURORDIS, the European Rare Disease Organization, formed it. EURORDIS approached the National organisation of  rare diseases in 2009 to partner in this initiative and support rare disease day.

2. What are some examples of rare diseases in India?

Rare diseases are present across the medical spectrum. Some rare diseases in India include haemophilia, cone-rod dystrophy, Chaple syndrome, Canavan disease, Addison's disease, and Angelman syndrome. Many rare diseases are named for the physicians who first identified them. A few are named for patients or even the hospitals where they were first identified.

3. Are rare diseases genetic?

Single gene alterations cause rare diseases. More than 80% of rare diseases are gene-related.

4. What is Alice in wonderland syndrome?

Alice in wonderland syndrome is a rare neurological disorder that interferes with your brain's capacity to process sensory input. The disturbance alters your perception of the size of objects around you, the feel or appearance of your own body, or both. It can also alter your perception of reality.
 

“We may be rare, but we got to roar”

On this world rare disease day, let us band together in green, blue, purple, and pink to raise awareness and effect change for the 300 million individuals worldwide who live with a rare disease and their families and caretakers.