About Rare Disease Day

Context:

Recently, Rare Disease Day was observed on the last day of February. This international awareness day is dedicated to raising awareness of rare diseases and their significant impact on patients and their families.

Relevance:

GS II: Health

Dimensions of the Article:

1. Rare Disease Day
2. Understanding Rare Diseases
3. Rare Disease Landscape in India
4. Provisions of the National Rare Disease Policy 2021

Rare Disease Day:

Global Advocacy Movement:

• Objective: Advocate for equity in social opportunities, healthcare, and access to diagnosis and therapies for individuals with rare diseases.
• Coordination: Established in 2008, coordinated globally by the European Organisation for Rare Diseases (EURORDIS) and involves over 65 national alliance patient organization partners.

Annual Observance:

• Date: Annually observed on 28th February (or 29th in leap years).
• Theme (2024): “Share Your Colours” – Emphasizes collaboration, support, and inclusivity.

Focal Point for Advocacy:

• Engagement: Serves as a focal point for advocacy work at local, national, and international levels.
• Participants: Engages individuals, families, caregivers, healthcare professionals, researchers, policymakers, industry representatives, and the general public.

Collaborative Approach:

• Theme Emphasis: Encourages collaboration and sharing of experiences and perspectives.
• Symbolism: “Share Your Colours” signifies unity and collective efforts in addressing challenges related to rare diseases.

Promoting Awareness:

• Purpose: Raise awareness about rare diseases, their impact, and the need for collective action.
• Impact: Promotes understanding, empathy, and support for individuals and families affected by rare diseases.

Advancing Global Efforts:

• International Reach: Brings together a diverse range of stakeholders worldwide to contribute to global initiatives in the field of rare diseases.
• Comprehensive Approach: Addresses challenges in healthcare, social opportunities, and research for rare diseases.

Understanding Rare Diseases:

Definition and Prevalence:

• Loose Definition: Infrequently occurring conditions in the population, with varying prevalence between nations.
• WHO Definition: Often debilitating lifelong conditions with a prevalence of 1 or less per 1000 population.
• Global Variances: Definitions differ globally; e.g., the US considers diseases affecting fewer than 200,000 patients rare.

Indian Perspective:

• ORDI Suggestion: Organisation of Rare Diseases India (ORDI) proposes a disease as rare if it affects 1 in 5,000 people or less.
• Current Status: India lacks a standardized definition for rare diseases.

Global Burden of Rare Diseases:

• Affected Population: 300 million people worldwide are impacted by rare diseases.
• Prevalence: Rare diseases affect approximately 3.5% to 5.9% of the global population.
• Genetic Nature: 72% of rare diseases are genetic, with over 7000 characterized by diverse disorders.

Impact and Characteristics:

• Diversity: Present with diverse disorders and symptoms, varying between diseases and even among patients with the same disease.
• Nature: Chronic, progressive, degenerative, and often life-threatening, significantly affecting patients’ quality of life.
• Cure Challenges: Lack of effective cures intensifies patient and family suffering.

Challenges Faced by Patients:

• Delayed Diagnosis: Lack of scientific knowledge and information leads to delayed diagnoses.
• Inequalities in Care: Disparities in access to treatment and care result in social and financial burdens.
• Misdiagnosis Risks: Common symptoms may mask underlying rare diseases, leading to initial misdiagnosis.

Diagnostic Challenges:

• Diagnostic Duration: On average, rare disease patients take 5 years to get a diagnosis (EURORDIS).
• Physician Awareness: Lack of awareness and training among physicians contributes to diagnostic challenges.
• Waiting Period: 70% of rare disease patients wait over a year for a confirmed diagnosis after seeking medical attention.

Rare Disease Landscape in India:

Prevalence and Impact:

• Global Share: India constitutes one-third of global rare disease cases, with 450 identified diseases.
• Overlooked Status: Despite high prevalence, rare diseases lack adequate attention, awareness, diagnosis, and drug development in India.
• Population Affected: Over 8 to 10 crore Indians, primarily children, estimated to suffer from rare diseases.

Policy Challenges:

• National Policy: The Ministry of Health and Family Welfare formulated a national policy for rare diseases (NPRD) in 2017 but withdrew it in 2018 due to implementation challenges.
• Revised Policy (2021): Announced in 2021, faces challenges, including the absence of a clear definition for rare diseases.

Treatment and Accessibility:

• Treatable Cases: Less than 50% of identified rare diseases in India are treatable.
• Approved Treatments: Available for only about 20 diseases.
• Centres of Excellence (CoEs): Limited and unevenly distributed; only 12 exist.
• Financial Assistance: NPRD guidelines provide limited financial aid per patient, insufficient for lifelong management of chronic rare diseases.

Challenges in Fund Utilization:

• Budget Allocation (2023-2024): Rs 93 crore allocated, highlighting low funding.
• Disparities and Inefficiencies: 51.3% of allocated funds remain unutilized, leading to unequal access.
• CoEs Struggles: Discrepancies in fund utilization; Mumbai exhausted funds treating 20 out of 107 patients, Delhi used <20%.
• Patient Burden: Funding responsibility falls on patients and families, with government support falling short.
• Advocacy for Sustainable Funding: Patients and advocacy groups call for sustainable funding from both central and state governments.

Critical Need for Sustainable Funding:

• Patient Struggles: Crucial for patients facing exhausted funds, ensuring continued treatment.
• Advocacy Emphasis: Calls for sustainable funding from both central and state governments to support rare disease treatment.

Provisions of the National Rare Disease Policy 2021

• Patients of rare diseases will be eligible for a one-tIme treatment under the Ayushman Bharat Pradhan Mantri Jan Arogya Yojana (AB-PMJAY).
• Financial support up to Rs20 lakh under the Umbrella Scheme of Rashtriya Arogaya Nidhi shall be provided by the central government for treatment of those rare diseases that require a one-time treatment (diseases listed under Group 1) for their treatment in Government tertiary hospitals only. – (NOT be limited to below poverty line (BPL) families, but extended to about 40% of the population as eligible under the norms of Pradhan Mantri Jan Arogya Yojana (PMJAY))
• The policy has categorised rare diseases in three groups:
  • Disorders amenable to one-time curative treatment;
  • Those requiring long term or lifelong treatment; and
  • Diseases for which definitive treatment is available but challenges are to make optimal patient selection for benefit.
• The government has said that it will also assist in voluntary crowd-funding for treatment as it will be difficult to fully finance treatment of high-cost rare diseases.

-Source: The Hindu