Patients with rare diseases wait for support

News:Recently, it has been reported that the majority of patients suffering from Lysosomal Storage Disorders (a rare disease) has been waiting for support from the Government.


About Lysosomal Storage Disorders: 

  • Lysosomal storage disorders are a group of more than 50 rare diseases. They affect the lysosome which is a structure in your cells that breaks down substances such as proteins, carbohydrates and old cell parts so the body can recycle them.
  • People with these disorders are missing important enzymes (proteins that speed up reactions in the body). Without those enzymes, the lysosome isn’t able to break down these substances.
  • When that happens,they build up in cells and become toxic.They can damage cells and organs in the body.

About Rare diseases:

  • A rare disease is a health condition of low prevalence that affects a small number of people compared with other prevalent diseases in the general population.
  • Most rare diseases are genetic and are present throughout a person’s entire life, even if symptoms do not immediately appear. 
  • Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. 
  • The most common rare diseases recorded in India are Haemophilia, Thalassemia, sickle-cell anaemia and primary immunodeficiency in children, auto-immune diseases among others.
  • India has about 70 million patients of rare diseases.

National Policy on Rare Diseases,2017:

  • National Policy on Rare Diseases was introduced in 2017.It provided for corpus fund of 100 Crores at Central and State Level for part funding treatment of rare diseases
  • The policy intends to constitute an Inter-ministerial Consultative Committee to coordinate and steer the initiatives of different ministries and departments on rare diseases.
  • It also provides for setting up of a Central Technical Committee (CTC) and individual State Technical Committees (STCs) to ease the process of patient applications,
  • It also encourages funding support from public sector undertakings (PSUs).

Note:In December 2018,the Ministry of Health and Family had decided to withdraw and review the National Policy on Rare diseases due to new information and updates available for further improvement and effective implementation.