Recent news reports have raised concerns over the numerous patient applications for Lysosomal Storage Disorders treatment, which are currently pending with the Union Ministry of Health and Family Welfare. It’s estimated that there are over 2,000 children in the country suffering from rare diseases who require urgent medical attention. One treatment option for those affected is Enzyme Replacement Therapy (ERT), a medical technique that substitutes a deficient or absent enzyme in the body.
There are also ongoing calls for the National Policy for Treatment of Rare Diseases, first established in 2017, to be revamped to better address these issues.
Understanding Lysosomal Storage Disorders
Lysosomal Storage Disorders are a type of hereditary metabolic disease, marked by the abnormal build up of toxic materials in the cells due to an enzyme deficiency. These disorders can affect various parts of the body such as the skeleton, brain, skin, heart, and central nervous system. Currently, many lysosomal storage diseases lack an approved treatment method.
Dealing with Rare Diseases
A rare disease, by definition, is a health condition with low prevalence that impacts a small pocket of people compared to other prevalent diseases in the general populace. While there is no universally accepted definition for rare diseases, they are often identified by their rarity in individual instances but their vast number when considering the collective population affected.
About 80% of these rare diseases are genetic in nature, thus primarily affecting children. In India alone, it’s estimated that between 56-72 million people are affected by rare diseases.
National Policy for Treatment of Rare Diseases, 2017: A Close Look
The National Policy for Treatment of Rare Diseases, established in 2017, outlines both short and long term plans aimed at dealing comprehensively with rare diseases. Among its provisions, it suggests an Inter-ministerial Consultative Committee to coordinate initiatives across various ministries and departments.
The policy also mentions the creation of a dedicated fund at both Central and State levels to finance the treatment of rare diseases, alongside the establishment of a patient registry housed within the Indian Council of Medical Research (ICMR).
HTML Table: Facts About Rare Diseases
| Fact | Detail |
|---|---|
| Prevalence in India | 56-72 million people |
| Genetic Origin | 80% of all rare diseases |
| Lysosomal Storage Disorders | Inherited metabolic disease due to enzyme deficiencies |
| ERT | Medical technique for enzyme replacement in the body |
Maintaining a Balance between Treatment Accessibility and Health System Sustainability
While acknowledging the higher cost inherent in treating rare diseases, the 2017 policy also seeks to strike a balance between ensuring accessibility to treatment options and maintaining the sustainability of health systems. Additionally, it aims to foster awareness about rare diseases among medical professionals, families of patients, and the general public.