In general, we don’t find rare disease advocacy funny. But of the many qualities encountered by everyone who met Sammy Basso, a biologist and spokesperson for the progeria patient community who died suddenly on Saturday at the age of 28, perhaps the most disarming was his ability to find laughter in almost everything. On April 1, he posted a video of his doctors putting him on a diet — an absurdity for someone whose genetic condition 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 old, a bit like ET – and he liked to joke about it. He did it outside a friend’s house on Halloween and was thrilled by the reactions of children as he passed out candy. He did it outside Area 51, the Nevada military base synonymous with UFOs and extraterrestrial life. “He put on a pair of crazy sunglasses that looked like alien goggles and sat on a park bench, leading countless tourists to believe they had discovered the real thing,” recalls 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 extremely rare disease, his life was completely different from that of other people, but he lived with the belief that he could connect with anyone, whether it was trick-or-treating children of Frederick. Maryland, the Pope, or the gene editing masterminds.
Basso was born in 1995 in Schio, Italy, and lived in Tezze sul Brenta, about an hour northwest of Venice. When he was two, he was diagnosed with progeria, also known as Hutchinson-Gilford syndrome, a genetic disease that accelerates biological time. A single typo in a person’s genome gives rise to the creation of a toxic protein, which shortens the lifespan of cells, causing a full-body syndrome in which a child has health problems related to old age. Many patients with the condition develop serious cardiovascular problems and die by the time they are 14.
Basso once described his illness as an “ancestral memory.” It predated his earliest memory and was the only reality he knew. His family, he said, emphasized that his life had an atmosphere of normality. He went to school, followed his parents’ rules and integrated their values. He was a devout Catholic. This can sometimes cause an inner conflict, the tension between having deep trust and experiencing real suffering at the same time. “He had his crises in his early teens: ‘Why is God doing this to me?’” recalls 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 heartbreaking aspects of having the disease. There were the symptoms, the physical limitations, the terrible knowledge of a shorter life expectancy. There was also the tragedy of losing others in the close-knit progeria community, which felt to Basso like grieving sibling after sibling. Yet he was also able to express optimism and gratitude that, coming from someone less sincere, seems hard to believe. “In a way, I should thank Progeria,” he once said on stage, in his eloquent, Italian-inflected English. “Progeria does not prevent me from living a happy life. Perhaps without progeria I would not have understood that biology and science are my path.”
The fact that the science of progeria has made so much progress is partly 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 proteins, slows the progression of symptoms and extends the lives of some patients.
He then joined the research group working on a gene-edited therapy. Instead of cutting out the genetic typo with molecular scissors, this team hopes to replace that letter in the DNA sequence with the correct one, in a kind of biological text processing. The investigators met on Monday at 4:00 PM Eastern. It was late in Italy, but Basso was always sharp. He was the person who drew up the meeting agenda and took the often technical and jargon-rich minutes. “He helped us every time we met to keep our eyes on what we were trying to do, which wasn’t just an academic exercise,” Collins said. Not only was he an inspiration and an invaluable patient voice, but he was also 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 fully describe Sammy because his mind was so complex,” said Leslie Gordon, medical director of the Progeria Research Foundation and professor of pediatrics at Brown University. She had known him since he was five, when he befriended her own son, also named Sam and also born with progeria, who died in 2014. Initially, he was a child kicking a ball and playing in the pool with her own child. Back then, he was someone she shared a bond of grief with. Eventually he also became a research assistant.
“He was accepted to do a PhD, but he decided to wait: he was too busy working with Leslie and writing papers,” Tessarollo, the family friend, said with a laugh. In other words, Basso’s professional academic career was too successful – and too urgent – for him to complete his education.
That’s what made him so remarkable. He was brilliant but down to earth, serious but funny, charismatic but deeply kind. He was the kind of man who once received a personal phone call from the Pope, to which his mother replied that Sammy was at school. Could His Holiness call back later today? The kind of man who could work on CRISPR with some of the most famous genetic minds and also write books on Venetian mythology in his spare time. The kind of guy who signed all his emails with “Big hugs, Sammy” and liked to laugh at his own alien appearance. As David Liu of Harvard and the Broad Institute put it, “Sammy had a magical way of uniting others and moving us to become better versions of ourselves.”
Everyone around him knew that Basso had long outlived the average life expectancy of progeria and that he could die at any moment. But it was still a shock considering his momentum. He had just traveled to China to visit fellow patients there. Over the past 24 hours, he had been emailing 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’s where he collapsed, after a night of celebrating and dancing, due to suspected cardiovascular complications from progeria. In a way, it was a fitting final act for Basso, who embodied the most mysterious tension. Even in a world full of unspeakable sadness, he seemed to say again and again, there is much to be excited about.