Understanding Progeria: The Rare Genetic Disease Affecting Children

What Is Progeria?

Progeria, or Hutchinson–Gilford syndrome (HGPS), is a rare genetic disease that causes rapid ageing in children. Its effects are devastating, with a marked reduction in quality of life. The condition is attributed to a genetic mutation that impacts the body’s ability to grow normally.

Who Was Sammy Basso?

Sammy Basso was diagnosed with progeria at the age of two. Born in Veneto, Italy, in 1995, he became an emblematic figure for the progeria community. He and his parents established the Italian Progeria Association to raise awareness and support research. His journey was chronicled in the National Geographic documentary Sammy's Journey, showcasing his adventures along Route 66.

How Does Progeria Affect Individuals?

Children with progeria experience rapid physical changes that resemble ageing. They often face various health challenges and a significantly reduced life expectancy—typically only 13.5 years without treatment. Though rare, affecting about one in every eight million births, progeria’s impact resonates deeply within communities and families.

Treatment and Research on Progeria

Currently, there is no cure for progeria. However, treatments such as physical therapy and medications like lonafarnib can help manage some symptoms. Ongoing research strives to provide better quality of life and potentially more effective treatments for those affected by this rare condition.