Rare Disease Day is observed every February 28, bringing together patients, families, researchers, and advocates from around the world to raise awareness about the impact of rare diseases on millions of lives. At FOMAT, we stand alongside the rare disease community and believe that every person deserves access to equitable healthcare, accurate diagnosis, and effective treatment regardless of how uncommon their condition may be.
What Is Rare Disease Day and Why Does It Matter
For those living with a rare disease or caring for a loved one with one, Rare Disease Day is an opportunity to share personal stories and shine a light on challenges that often go unrecognized. Because various rare diseases affect people across all ages and backgrounds worldwide, it is essential that we advocate for equitable access to diagnosis, treatment and therapies, health and social care, and social opportunity. No person living with a rare disease should be left behind, and we will continue to celebrate and advocate for the progress made at the local, national, and international levels.
What Is a Rare Disease and How Can It Affect People
A disease is classified as rare when it affects less than 1 in 2,000 people. Rare diseases have chronic, progressive, degenerative, and frequently life threatening aspects that significantly impact an individual’s quality of life. Additionally, there is often a lack of scientific knowledge and quality information about rare diseases, which can delay diagnosis and receipt of appropriate treatment.
Because an individual may experience common symptoms found in other known diseases, this can frequently lead to an initial misdiagnosis. Diagnosis of a particular rare disease can also be difficult because symptoms may differ from patient to patient, even if those patients suffer from the same condition.
Many people also face obstacles related to social, environmental, or financial situations. It can become exhausting for a patient to move from doctor to doctor in search of a diagnosis, and deeply disheartening for patients and their families to learn that no effective cures currently exist.
Key Rare Disease Day Statistics
According to The National Organization for Rare Disorders (NORD), over 300 million people are impacted by over 7,000 rare diseases globally. The International Rare Disease Day organization also reports that:
- About 5% of the worldwide population is affected by a rare disease
- Over 6,000 rare diseases have been identified
- Of those 6,000 rare diseases, 200 are identified as rare cancers
- About 72% of rare diseases are genetic, while others result from infections, allergies, environmental causes, or rare cancers
- About 70% of genetic rare diseases begin in childhood
The Role of Clinical Research in Rare Disease Day Progress
One of the most powerful ways to advance care for rare disease patients is through participation in clinical research. Clinical trials are essential to understanding the biological mechanisms behind rare diseases, developing new therapies, and improving diagnostic tools. At FOMAT, we are committed to expanding access to clinical research for underrepresented and underserved communities, including those affected by conditions that receive limited attention in mainstream medicine. Every person who participates in a clinical trial contributes to a body of knowledge that can improve outcomes for future patients living with rare diseases around the world. Rare Disease Day reminds us that scientific progress depends on inclusion, and that no condition is too uncommon to deserve dedicated research and advocacy.
What Can You Do for Rare Disease Day
Join us as we spread awareness and advocate for the importance of recognizing rare diseases as a human rights priority. Everyone should have the right to an equitable healthcare system and the opportunity to live a full and inclusive life. If you want to learn more about rare diseases, patient stories, or ways to get involved, we encourage you to visit the following resources:
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