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

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.