We generally don’t think of rare-disease advocacy as funny. But of the many qualities apparent to anyone who met Sammy Basso, a biologist and spokesperson for the progeria patient community, who died suddenly on Saturday at 28, perhaps the most disarming was his ability to find laughter in almost anything. One April Fool’s Day, he posted a video about his doctors putting him on a diet — an absurdity for someone whose genetic disorder prevented him from gaining weight. “A seafood diet. When I see food, I eat!” he said, pressing a button for a ba-dum-tssgrinning into the camera.
He knew the disease made him look unusual — bald, eyebrowless, prematurely aged, a bit like E.T. — and he loved to joke about it. He did it outside a friend’s house on Halloween, delighting in kids’ reactions as he handed out candy. He did it outside Area 51, the Nevada military base synonymous with UFOs and extraterrestrial life. “He put on some crazy sunglasses that looked like alien eyewear and sat on a park bench, causing numerous tourists to actually believe they’d discovered the real thing,” recalled Francis Collins, former director of the National Institutes of Health.
That was typical of Basso. As one of the oldest known survivors of progeria, an ultra-rare disease, his life was utterly unlike other people’s, but he lived it with the conviction that he could connect with anybody, be it the trick-or-treating kids of Frederick, Maryland, the pope, or the masterminds of gene editing.
Basso was born in 1995, in Schio, Italy, and lived in Tezze sul Brenta, about an hour or so northwest of Venice. When he was 2, he was diagnosed with progeria, also known as Hutchinson-Gilford syndrome, a genetic disease that speeds up biological time. A single typo in someone’s genome gives rise to a toxic protein, truncating the lifespan of cells, creating a full-body syndrome in which a child has health problems associated with old age. Many patients with the condition get serious cardiovascular problems and die by the time they’re 14.
Basso once described his illness as an “ancestral memory.” It predated his earliest recollection and was the only reality he knew. His family, he said, insisted his life have an air of normalcy. He went to school, followed his parents’ rules, and integrated their values. He was a devout Catholic. That could sometimes create an inner conflict, the tension between having deep faith while also experiencing true suffering. “He had his crises, when was an early teenager: ‘Why is God doing this to me?’” recalled Lino Tessarollo, a family friend who came from the same town as Basso and is now a cancer researcher at the NIH. “But he turned around and said, ‘Maybe it’s a gift.’”
Basso didn’t shy away from talking about the gut-wrenching aspects of having the disease. There were the symptoms, the physical limitations, the terrible knowledge of a shortened life expectancy. There was also the tragedy of losing others in the tight-knit progeria community, which felt, to Basso, like mourning sibling after sibling. Yet he could also express optimism and gratitude that, coming from someone less genuine, might sound hard to believe. “In a way, I should thank progeria,” he once said onstage, in his eloquent and Italian-inflected English. “Progeria does not prevent me to have a happy life. Maybe without progeria, I wouldn’t have understood that biology and science is my path.”
The fact that the science of progeria has advanced so much is in part due to Basso himself. He volunteered for the clinical trial of what would become the first approved drug for the disease, which helps prevent the buildup of toxic protein, slowing the progression of symptoms and extending some patients’ lives.
Then, he joined the research group working toward a gene-edited therapy. Rather than snipping out the genetic typo with molecular scissors, this team hopes to swap out that letter in the sequence of DNA for the correct one, in a sort of biological word processing. The researchers met on Mondays at 4 p.m. Eastern. It was late in Italy, but Basso was always sharp. He was the person who set the agenda for the meeting and took the often technical, jargon-heavy minutes. “He helped us every time we met to keep our eyes on what we were trying to do, which was not just an academic exercise,” said Collins. On top of being an inspiration and an invaluable patient voice, he was a scientist in his own right, with a master’s degree in molecular biology. As Collins put it, “He was a full member of the team.”
“It will be impossible to describe Sammy in full, since his mind was so complex,” said Leslie Gordon, medical director of the Progeria Research Foundation and a professor of pediatrics at Brown University. She’d known him since he was 5, when he became friends with her own son, also named Sam and also born with progeria, who died in 2014. At first, he was a kid kicking around a ball and playing in the pool with her own child. Then he was someone with whom she shared a bond of grief. Eventually, he also became a research collaborator.
“He got accepted to go and get a Ph.D., but he decided to hold off: he was too busy working with Leslie and writing papers,” said Tessarollo, the family friend, laughing. In other words, Basso’s professional academic career was too successful — and too urgent — for him to finish his training.
That was what made him so remarkable. He was brilliant but down-to-earth, serious but funny, charismatic but deeply kind. He was the kind of guy who once got a personal phone call from the pope, to which his mother replied that Sammy was at school, could His Holiness call back a bit later in the day? The kind of guy who could work on CRISPR with some of the most famous genetic minds and also write books about Venetian mythology in his spare time. The kind of guy who signed all his emails “With a big hug, Sammy” and loved laughing about his own alien-like appearance. As David Liu, of Harvard and the Broad Institute, put it, “Sammy had a magical way of unifying others and moving us to be better versions of ourselves.”
Everyone around him knew that Basso had long outlived progeria’s average life expectancy, and that he could die at any time. But it was still a shock, given his momentum. He’d just traveled to China to visit fellow patients there. In his last 24 hours, he’d been emailing with Collins about their next meeting with Gordon and Liu, about Collins’ trip to Nigeria, about Basso’s excitement to attend a friend’s wedding. That was where he collapsed, after a night of celebrating and dancing, from suspected cardiovascular complications of progeria. In a way, it was a fitting last act for Basso, who embodied that most mysterious of tensions. Even in a world full of unspeakable grief, he seemed to say again and again, there is much to be excited about.
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