Living With Gusto Despite a Rare, Fatal Disease, and Hunting for Answers

TEZZE SUL BRENTA, Italy — Like many an Italian man living at home in his mid-20s, Sammy Basso is a little embarrassed by the childhood mementos that clutter his small bedroom.

There is a poster of the alphabet, old toys, a cherished teddy bear and trophies he earned during arduous clinical trials at Boston Children’s Hospital when he was 12. Above votive candles, pictures on his wall show his meetings with three popes, including Francis, who called to chat when Mr. Basso was in high school.

Feet hanging off the bed, he showed off the medal of knighthood given to him by Italy’s president and put on the oversized novelty sunglasses he got in Roswell, N. M., where he played a prank on a woman in the U.F.O. museum by pretending to be an alien “because I look a little like them.”

But Mr. Basso, 26, looks less like a being from an advanced civilization than one from an advanced stage of life. At about4 feet 5 inches and 44 pounds, he has barely any fat below his parchment thin skin, or any hair on his head. His face is small and wizened, his nose overly prominent. His bones are frail, his hip joints are at risk of painful dislocation, and his heart and arteries are blocked, calcified and stiffened like a person many decades older.

“By now, I’m the oldest person with progeria in the world,” said Mr. Basso, referring to Hutchinson-Gilford Progeria syndrome, an exceedingly rare and fatal disease that afflicts only about one in 18 million people. Progeria, from the Greek for prematurely old, weakens cell structure and creates the resemblance of aging on cells, the body and, fatally, the cardiovascular system. Unlike natural aging, the syndrome leaves the mind free from senility, which Mr. Basso joked in his soft and gravelly voice, could be considered a miracle, “or a damnation.”

He was hardly expected to outgrow his bedroom’s childhood memorabilia before the maladies of old age cut him down. “This was really painful for me,” Mr. Basso said of first understanding, as a child, that “my life span could be different.”

A breakthrough drug — tested during the trials in which Mr. Basso took part — has extended by at least two and half years the traditional average life expectancy for people with progeria, 14.5 years. That has given researchers hope of an eventual cure, as well as critical insights into ordinary human senescence.

“Researching something that is premature aging,” Mr. Basso said, “you can understand aging better.”

Mr. Basso, busy in his borrowed time, is himself one of those researchers, after earning degrees in natural science and molecular biology.

In few places is aging as urgent a subject as in Italy, which has one of the world’s highest median ages, about 47 years. The country’s low birthrate and increased longevity mean it will face a daunting population boom of the old and infirm. Mr. Basso’s condition gives him a unique perspective on the ravages of aging, and how critical it is, no matter the economic cost, that his beloved Italy continue to “respect our ancestors,” value wisdom and understand that “physical limitations are not the most important thing.”

The power of Mr. Basso’s message and active example — whether in his theater group, Ted Talks, frequent television appearances or new local radio slot — have made him one of Italy’s most recognizable advocates for science and human dignity, regardless of age. In his native Veneto region, crowds have mobbed him on the street, artists sculpt him and officials have enlisted him as a unique spokesman for coronavirus vaccinations who can urge all Italians, whether young like him or seemingly old and vulnerable like him, to get inoculated.

“I lived this duality,” Mr. Basso said.

In fact, Mr. Basso’s slight frame embodies a dizzying span of human experience. He is a young man who appears old, an adult sometimes patronized like a child. He is a scientist and a devout Catholic, a clinical trials patient and a researcher.

And he is an example to the roughly 130 people worldwide, overwhelmingly children, identified by the U.S.-based Progeria Research Foundation as having the disorder. He hopes his high profile increases the chances of others coming forward for help.

“The thing I would like them to learn by my experience is that their life is important,” he said. “They can be helpful for the world.”

Mr. Bassooften exhibits a drink-life-to-the-dregs wisdom far beyond his sped-up years. But spending a day with him in his family home in Tezze Sul Brenta reveals that he is, above all else, a fun guy to hang out with.

He peppers his good English and default Venetian dialect with Yiddish expressions. (“Oy-yoy-yoy.”) He can eye roll with the best of them. He is the star and inspiration of Sammy’s Runners club, a group of friends and fans who run marathons to support progeria awareness, and he smiles as his friends push him in a wheeled chariot around the track and the cold hits his face. (“I’m fine,” Mr. Basso said. “They’re the ones who are running!”)

In many ways, he is a typical Veneto guy, joking with his friends about his bottomless appetite and fondness for a tipple. When doctors in Boston told him red wine was good for his heart, he said he replied, “Oh, I will live forever.”

That levity was hard-earned.

Mr. Basso’s parents noticed something different about their son soon after his birth. After several invasive tests, a pediatrician, remembering a photo from medical school, told them he was sure their son had progeria,which occurs when a single uninherited genetic mutation produces toxic levels of an abnormal protein, progerin, which naturally increases, though in much lower levels, in aging people. Doctors told Mr. Basso’s parents to enjoy each moment with him, because he probably wouldn’t live past 13.

“We were devastated,” his mother, Laura Lucchin, 53, said. “You have a 2-year-old son and you have your plans and instead, no.”

But even as her son appeared to age faster and look older than his parents, “Sammy was never old to us,” she said. He was a happy child and remarkably resistant to self-pity. She recalled once crying as she did the dishes, when her son came in and told her, “Mom, give me a smile.”

His mother smiles at him a lot. She also gently scratches his back and puts on his New Balance shoes, one cobbled with a platform to help even out his gait. His father kisses him on top of the head when he comes home from working at a sweater factory. The toddler next door barges in, jumps into Sammy’s arms and showers her favorite neighbor with kisses. She is too young to notice the gradations of age.

In 2000, Mr. Basso for the first time saw other people with his condition at a meeting in Washington. It was nice to see people who looked and lived like him, he said, but just as impressively, “it was the first time I saw other people from other countries.”

In 2007, he returned to the United States for the first clinical trials of experimental drugs, and suffered a crisis of faith. He believed that God had given him the disease for a reason and that “trying to cure progeria for me was to go against God’s plan.” He said the researchers and his family “led me to understand that science was a gift of God,” a miracle “to do something for others.”

In recent years, he has faced new adversity. He just got over pneumonia and his hips hurt. In 2019, he underwent surgery to replace his aortic valve, an operation he put off until he got his first college degree.

“He didn’t even miss one exam,” his father, Amerigo, 56, said.

Since then, he has also kept up with his research into progeria, his foundation in Italy and his role as a global spokesman for the Progeria Research Foundation.

“He’s looking for ways to help because that’s what’s in his heart,” saidDr. Leslie Gordon, the foundation’s co-founder whose own son, Sam, was a good friend of Mr. Basso and died from progeria in 2014 at age 17. She has known Mr. Basso since he was 3, and seen him grow into a colleague with whom she can talk shop.

Topping their list is gene editing, which they are eager to test and which they think could eventually reverse the aging effects of progeria in children. First they need the funding, and in an aging-obsessed era, with billions spent on longevity science, Mr. Basso’s is a powerful voice to attract worthwhile attention.

After leaving the running track, Mr. Basso and his friends and parents went to the local pub, where he scarfed down an enormous burger, topped with cheese, lard and an egg. At a certain point his mother stopped him from washing down his medications, including the experimental drug from the trial, with his beer and slid over a glass of water. He rolled his eyes and cracked a smile.

“I’m still understanding who I am, what I’m going to become. I learned how to live with progeria as a baby, as a kid, as a teenager, and now I’m trying to understand how to live with progeria as an adult,” Mr. Basso said. “I don’t know if I will be able to do that. But I’m trying.”