To live with ALS and to care for patients extracts a toll

To live with ALS and to care for patients extracts a toll

Subject: Science and technology

Section: Health

Introduction

• Amyotrophic Lateral Sclerosis (ALS) is a rare neurodegenerative disease.
• The gap between symptom onset and diagnosis significantly impacts the experience.

Understanding ALS

• ALS targets Motor Neurons in the brain and spinal cord.
• Motor Neurons control voluntary functions like walking, talking, and more.
• Gradual deterioration of these neurons leads to muscle weakness and atrophy.
• Impaired respiratory muscles due to neuron loss affect breathing.

Survival and Progression

• On average, ALS patients survive for around three years after diagnosis.
• Research by Chio et al. (2009) reveals a range of 20 to 48 months for survival.
• The disease’s progression rate varies from person to person based on factors like genetics and overall health.

Diagnosis Challenges

• The diagnostic journey for ALS takes 8 to 15 months from the emergence of symptoms.
• Definitive biomarkers for ALS remain undiscovered, complicating diagnosis.
• Diagnosis requires motor cell failure in multiple body regions.
• Isolated symptoms, such as limb weakness, are insufficient for a confirmed ALS diagnosis.

Rare Disease Policy and ALS

• India lacks a comprehensive national policy focused on rare diseases like ALS.
• The Union Government’s National Policy for Rare Diseases (NPRD) 2021 offers financial assistance up to Rs. 50 lakhfor patients with rare diseases.
• WHO defines rare diseases as disorders with a prevalence of 1 or less per 1000 population.
• The NPRD includes a prevalence threshold of 1 to 6 in 10,000 people.
• ALS affects six out of one lakh people, meeting the criteria for rare diseases in India.

Rare Diseases: An Overview

• Definition and Scope
  • Rare diseases are a group of disorders with low prevalence in the population.
  • WHO defines rare diseases as disorders with a prevalence of 1 or less per 1000 population.
  • There are 6,000-8,000 classified rare diseases.
  • Less than 5% of these diseases have available therapies.
• Examples of Rare Diseases
  • Lysosomal Storage Disorders (LSD), Pompe disease, cystic fibrosis, muscular dystrophy, spina bifida, hemophilia, etc.
  • These diseases often have severe and chronic impacts on patients’ lives.

National Rare Disease Policy 2021: Overview

• Emphasize local research and production of medicines.
• Reduce treatment costs for rare diseases.
• Facilitate early detection and prevention of rare diseases.

Key Provisions of the Policy

Categorization

• Group 1: Disorders treatable with one-time curative interventions.
• Group 2: Diseases necessitating long-term or lifelong treatment.
• Group 3: Diseases with available treatment but facing challenges in patient selection, high costs, and lifelong therapy.

Financial Support

• Up to Rs. 50 lakhs financial aid for patients with any category of rare diseases, treated at the Centre of Excellence (CoE) specified in NPRD-2021, outside the RashtriyaArogaya Nidhi umbrella scheme.
• Up to Rs. 20 lakhs assistance under Rashtriya Arogya Nidhi for Group 1 rare diseases.
• Rashtriya Arogya Nidhi extends support to patients with critical diseases irrespective of their financial status.
• Utilization of digital crowdfunding platform for individual and corporate contributions.

Centres of Excellence

• Designation of eight health institutions as ‘Centres of Excellence’.
• Allocation of one-time financial aid of up to Rs. 5 crore for enhancing diagnostic facilities.

National Registry

• Establishment of a nationwide hospital-based registry for rare diseases.
• Ensuring comprehensive data and standardized definitions to support research and development initiatives.