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.