ABC News’ David Muir and Erin McLaughlin report:
Getting ready for school in the morning is a little bit different for Sam Berns than for most other kids his age.
There are extra considerations Sam and his family have to take every day due to Sam’s rare condition. For his mother, every minute, no matter how seemingly ordinary, is special.
“He gets off the bus, it’s a moment. And I treasure it,” Leslie Gordon told ABC News. “Every moment in and of itself is special to me.”
That’s because Sam has Progeria, a fatal genetic condition that causes accelerated aging in children. Progeria is incredibly rare, affecting approximately one in 4 million to 8 million newborns. It’s estimated that there are just 250 children living with the condition worldwide, according to the Progeria Research Foundation.
Sam and his family have been leading the fight against the illness for more than 10 years. They are featured in a new HBO documentary premiering today called “Life According to Sam,” by award-winning husband and wife filmmakers Andrea and Sean Fine.
The documentary, shot over three years, focuses on Sam, a high school student and member of the marching band whom other students turn to for help with their math homework. Progeria can make life difficult for those living with it, but Sam has already exceeded expectations.
“After meeting Sam, we wanted to make this film,” Sean Fine said. “We thought it was important that people get to know him, get to hear what he has to say, and that this film would go beyond Progeria. It would touch people.”
The film also chronicles the incredibly dedicated work of Sam’s parents to cure their son’s illness. Although both his parents are doctors, Sam often says that his mother doesn’t have a “normal job.”
“I kind of just want my mom to be done with Progeria for her sake, because my mom will keep working forever until Progeria is cured,” he said.
Sam’s parents, Dr. Leslie Gordon and Dr. Scott Berns, founded the Progeria Research Foundation when Sam was first diagnosed with the illness at 22 months old. Since then, they have dedicated their lives to finding a cure for their son.
“What we needed to know was, ‘What is not out there? Where are the holes?’ And actually, the holes were everywhere, because nothing was being done,” Gordon said. “So we would say to scientists, ‘What do you need to get things done?’”
The answers from those scientists led them to find funding and create a cell and tissue bank to begin the in-depth research. Those first steps eventually led to a number of historic advances, including the discovery of the “Progeria gene” and an excess of a certain protein in children with the illness.
The biggest development so far has been the creation of a drug that aims to slow the progression of the illness. The drug, called a farnesyltransferase inhibitor (FTI), could prolong the lives of children like Sam. Clinical trials of the drug, along with two additional drugs to be used with FTI, are still ongoing, involving 45 children from 24 countries.
The prognosis for children who have Progeria is not good — they die at an average age of 13 years old. Sam turns 17 this week.
There is still more work to do before Gordon and Berns have accomplished their goals. PRF needs to find more children to test the drug, as well as find financial support to continue their research.
Gordon said that her and her husband’s medical training was useful in founding PRF, but that it was their role as Sam’s parents that spurred their new life’s work.
“When your child is in trouble, you can do anything. [Our medical training] wasn’t the key element,” Gordon said. “The key element is know what you need to do for these children, for children with Progeria. Going out there, finding out where the empty spaces are, getting the work done, and moving forward towards a cure.”
Sam said he hopes the documentary helps people learn to face their problems head on.
“In some aspects, the obstacles we have to overcome are more severe than others,” Sam said. “We’re doing our best to change that situation. And I think that it’s really important to show one’s character in the face of adversity.”
He said he also hopes viewers take the next step and help kids like him.
“I really want people to feel a positive feeling after watching it, and hopefully be inspired to help kids with Progeria, including me, get the treatment that we need and the resources we need to get a cure.”
After the family’s first meeting with the filmmakers, Sam told them he only had one request.
“He said, ‘you know, I think we’re all going to be friends here. And I think I have one thing. I just want to make sure you make a film that doesn’t make people feel sorry for me,’” Andrea Fine said. “That was the one thing he asked us to do.”
As for his future, Sam said he hopes to do something in the field of genetics, but says that goal might change as he grows up.
“I really think that I’ll be able to accomplish and get to that stage of what I want to do, no matter what it is.”
To learn more about how to help Sam and other children like him, visit here.
“Life According to Sam” premieres today on HBO at 9 p.m. ET.