What are the ‘Rare disease’? 

WHO defines rare disease as often debilitating lifelong disease or disorder with a prevalence of 1 or less, per 1000 population. 

• A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population. 
• Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not immediately appear.

Classification of Rare diseases:

Under the policy, there are three categories of rare diseases — 

1. Requiring one-time curative treatment,
2. Diseases that require long-term treatment but where the cost is low, and 
3. Those needing long-term treatments with high cost. 

Some of the diseases in the first category include osteopetrosis and immune deficiency disorders, among others.

Common Rare diseases in India:

Primary immunodeficiency disorders, Lysosomal storage disorders (Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, fabry disease etc.) small molecule inborn errors of metabolism (Maple Syrup urine disease, organic acidemias, etc.), cystic fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies, and spinal muscular atrophy.

Need of a Policy:

• The field of rare diseases is very complex and heterogeneous and prevention, treatment and management of rare diseases has multiple challenges. 
• Early diagnosis of rare diseases is a major challenge owing to a variety of factors that include lack of awareness among primary care physicians, lack of adequate screening and diagnostic facilities etc.

Source: Indian express