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Gaucher Disease

Gaucher Disease:

Children suffering from lysosomal storage disorders like Gaucher disease are facing a bleak future as their treatment has been stopped due to the exhaustion of one-time support from the Union health Ministry.

  • Gaucher disease is an inherited lysosomal storage disorder (LSD).
  • It is a type of disease that causes fatty substances (sphingolipids) to build up in your bone marrow, liver and spleen.
  • The sphingolipids weaken bones and enlarge your organs.
  • Symptoms: Enlarged spleen, liver, eye movement disorders and yellow spots in the eyes etc.
  • There are three types of Gaucher disease:
    • Type1: It affects your spleen, liver, blood and bones. It doesn’t affect your brain or spinal cord. Gaucher disease type 1 is treatable, but there’s no cure.
    • Type 2: A rare form of the disorder appears in babies younger than 6 months It causes an enlarged spleen, movement problems and severe brain damage. There’s no treatment for Gaucher disease type 2.
    • Type 3: It is the most common form which appears before age 10 and causes bone and organ abnormalities and neurological (brain) problems.
  • Treatments can help many people with Gaucher disease type 3 live into their 20s or 30s. There’s no cure for Gaucher disease, but treatments can relieve symptoms and greatly improve quality of life.