5-March-2024-Editorial

RARE DISEASE DAY 2024

Rare Disease Day is observed annually on the last day of February, dedicated to raising awareness of rare diseases and addressing the challenges faced by individuals and families affected by these conditions.

What is Rare Disease Day?

• Global movement advocating for equity in social opportunity, healthcare, and access to diagnosis and therapies for individuals with rare diseases.
• Established in 2008 by the European Organisation for Rare Diseases (EURORDIS) and observed annually on February 28th (or 29th in leap years).
• Coordinated effort involving over 65 national alliance patient organizations, engaging stakeholders worldwide.
• Theme for 2024: “Share Your Colours,” emphasizing collaboration and support.

Understanding Rare Diseases:

• Loosely defined as occurring infrequently in the population, with prevalence varying between nations.
• WHO defines rare diseases as often debilitating lifelong conditions with a prevalence of 1 or less per 1000 population.
• Prevalence criteria vary; US considers diseases affecting fewer than 200,000 patients rare, while the EU sets the limit at no more than 5 in 10,000 people.
• In India, ORDI suggests defining a disease as rare if it affects 1 in 5,000 people or less.

Global Rare Diseases Burden:

• Worldwide, 300 million people are affected by rare diseases, constituting approximately 3.5% to 5.9% of the population.
• Majority (72%) are genetic, with over 7000 characterized by diverse disorders and symptoms.
• 75% of rare diseases affect children, with onset often during childhood.

Characteristics and Impact:

• Present with diverse disorders and symptoms, affecting patients’ quality of life.
• Chronic, progressive, degenerative, and often life-threatening nature exacerbates suffering.
• Lack of effective cures adds to patients’ and families’ burden.

Challenges Faced:

• Delayed diagnosis due to lack of scientific knowledge and awareness.
• Inequalities in access to treatment leading to social and financial burdens.
• Misdiagnosis due to common symptoms masking rare diseases.
• Physicians’ lack of awareness contributes to diagnostic challenges.

Landscape of Rare Diseases in India:

• India represents one-third of global rare disease cases, with over 450 identified diseases.
• Despite significant prevalence, rare diseases remain overlooked, with limited awareness, diagnosis, and treatment.
• Over 8 to 10 crore Indians suffer from rare diseases, with over 75% being children.

Policy and Implementation Challenges:

• National policy formulated in 2017 faced implementation challenges and was withdrawn in 2018.
• Revised NPRD announced in 2021, addressing rare disease categorization and financial support.
• Challenges persist, including the absence of a clear definition for rare diseases.

Treatment Accessibility and Funding:

• Less than 50% of identified rare diseases are treatable in India.
• Access to treatment limited to designated Centres of Excellence (CoEs), with uneven distribution.
• Limited financial assistance under NPRD guidelines insufficient for lifelong management.
• Disparities in fund utilization highlight inefficiencies in resource allocation.

Way Forward:

• Frame standard definition for rare diseases to ensure consistency in policy implementation.
• Increase budgetary outlays to support drug development, therapy, and research.
• Expand CoEs and develop satellite centers for better accessibility.
• Enhance fund utilization and establish national registry and centralized laboratory.
• Incentivize domestic drug manufacturers and implement CRDC model.
• Ensure affordable access to rare disease medicines by reducing taxes and expanding access.

Conclusion:

• Rare Disease Day serves as a crucial platform for advocacy and awareness.
• Addressing challenges in policy, funding, and treatment accessibility is essential for improving the lives of individuals and families affected by rare diseases.
• Collaborative efforts involving stakeholders at all levels are necessary to ensure equity and support for those living with rare conditions.