On this Rare Diseases Day, unspent budget and untreated patients remain a concern, Pg8

Key Highlights:

• Nayan, diagnosed with MPS 2 in 2016, faces stunted growth despite efforts to stay active due to insufficient government funding.
• Alishba Khan, suffering from Gaucher disease, experienced deterioration after funding from the National Policy for Rare Diseases (NPRD) ceased in August 2024.
• Approximately ₹271 crore allocated for rare disease patients remains unspent, while many patients' conditions worsen.
• Around 2,000 rare disease patients in India await treatment, including 450 with life-threatening Lysosomal Storage Disorders (LSD).
• 100 children who started treatment have exhausted the ₹50-lakh funding cap, and 8 patients have died while awaiting support.
• For the year 2025-26, ₹299 crore was allocated for rare disease treatment, but only ₹30.79 crore has been utilized by the NPRD so far.

Detailed Insights:

• The National Policy for Rare Diseases (NPRD) aimed to provide financial assistance for the treatment of rare diseases, but implementation gaps have led to a crisis.
• Many patients who had begun treatment with the NPRD are now facing interruptions due to the exhaustion of the ₹50-lakh funding cap.
• The underutilization of allocated funds, with ₹271 crore remaining unspent, highlights systemic issues in the disbursement and management of resources.
• The interruption of treatment has severe consequences, causing a decline in the quality of life and, in some cases, leading to fatalities among rare disease patients.
• The upcoming Supreme Court hearing adds uncertainty, leaving patients in limbo and emphasizing the urgent need for intervention to ensure continuity of care.
• Lysosomal Storage Disorders (LSD), a group of rare genetic disorders, disproportionately affect children and require continuous, life-saving care.

Key Concepts Involved:

• Rare Disease: A disease that affects a small percentage of the population, often chronic and life-threatening.
• National Policy for Rare Diseases (NPRD): Government policy to support the treatment and management of rare diseases.
• Lysosomal Storage Disorders (LSD): A group of inherited metabolic disorders characterized by enzyme deficiencies.