News Excerpt:

India’s first patient diagnosed with the rare genetic disorder, died on November 9 after spending nearly six years in a semi-comatose state.

• According to the Central Government, an estimated 70 million people in India suffer from 450 rare diseases.

About Pompe disease:

• A rare inherited disorder that affects one child per million, Pompe disease is caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). 
• It results in the accumulation of glycogen in cells, particularly in muscles. 
• Some common side effects and symptoms include muscle weakness, respiratory issues, heart problems and difficulty swallowing.

Organization for Rare Diseases India (ODRI):

• A Better Life for People with Rare Diseases - ORDI (www.ordindia.in) is a national umbrella organization representing the collective voice of all patients with rare diseases in India, setup as a section 25 non-profit company in India.
• To promote Rare Diseases as human rights priority through public awareness.