4th Annual Rare Disease Day

Today celebrates the 4th annual International Rare Disease Day. A rare disease is one that affects fewer than 200,000 people – but there are nearly 7,000 rare diseases affecting about 30 million Americans, or one in ten.

Here at Children’s Hospital Boston, the Manton Center for Orphan Disease Research develops new methods for understanding, diagnosing and treating unusual diseases. The Center applies this knowledge to making fundamental scientific advances, with broad implications for human health.

This video shares the story of a dedicated family and their son Oliver’s battle with galactosemia, a rare genetic metabolic disorder in which an individual is unable to metabolize the lactose properly and turns it into poison in the body.