The Italian Progeria Association announced on Sunday that Sammy Basso, the longest-living survivor of progeria, has passed away at the age of 28. Progeria, also known as Hutchinson–Gilford syndrome (HGPS), is a rare genetic condition that causes rapid aging, significantly reducing life expectancy.
Progeria affects approximately one in every eight million births worldwide, with a global incidence of one in 20 million. The disease is caused by a mutation in the LMNA gene and is not inherited, occurring randomly. It affects both sexes and all races equally, with symptoms typically appearing within the first year of life.
Sammy Basso was born in 1995 in Schio, Italy, and was diagnosed with progeria at the age of two. In 2005, he and his parents established the Italian Progeria Association to raise awareness and support research. The term "progeria" originates from Greek words meaning "prematurely old," reflecting the condition's hallmark rapid aging process.
Without treatment, the average life expectancy for individuals with progeria is just 13.5 years. However, Sammy Basso defied these odds, living more than twice as long as the typical prognosis. Prior to Basso, the oldest known person with progeria lived to 26 years old.
Basso gained international recognition through the National Geographic documentary "Sammy's Journey," which chronicled his travels along Route 66 in the United States with his parents and a close friend. This journey showcased Basso's determination to live life to the fullest despite his condition.
While progeria does not affect cognitive development, it presents numerous physical challenges. Patients often exhibit a characteristic appearance, including prominent eyes, a small chin, and protruding ears. Heart disease is the leading cause of death among those with progeria.
Currently, there are only 130 recognized cases of classic progeria worldwide, with four in Italy. However, the Italian Progeria Association estimates that the actual number could be as high as 350, as cases can be difficult to identify, especially in developing countries.
"Today our light, our guide, has gone out. Thank you Sammy for making us part of this wonderful life."
Research on progeria has led to significant advancements in understanding cellular aging processes. The Progeria Research Foundation, established in 1999, maintains a global patient registry and has supported various clinical trials. In 2012, the first clinical drug trial for progeria was completed, and the drug lonafarnib has shown promise in treating the condition.
While there is currently no cure for progeria, ongoing research continues to provide hope for improved treatments and management of symptoms. Genetic testing can confirm a progeria diagnosis, allowing for early intervention and participation in clinical trials.
Sammy Basso's life and advocacy work have significantly contributed to raising awareness about progeria and inspiring research into this rare condition. His legacy will continue to impact the progeria community and broader medical research on aging processes.