Longer lives on horizon for children born old
STEVENSVILLE, Mich. — Everyone stares at Cam.
They look at the oversized forehead and the thick blue veins on his bald head, at the translucent skin, the tiny fingers. And they suddenly realize that the boy wearing green Crocs and a pig-print shirt looks more like a grandfather than a 3-year-old.
“Why is his head blue?” children ask Cam’s parents, Jason and Stephanie Howard.
“How old is he?” adults wonder, ever so cautious not to utter the wrong words.
They stare, and Cam mimics them, bulging eyes fixed on them.
“He stares right back; that’s the funny thing,” says his mother, standing on her front lawn as Cam rides the electric tricycle he got for Christmas. “He probably thinks staring is normal behavior.”
That Howard laughs as she talks reveals how the family copes with the inexplicable illness afflicting Cam. He has progeria, one of the rarest diseases. Only 15 other children in the United States have the genetic disorder which causes premature aging. Most kids live only to age 13; almost all die from heart attacks or strokes.
Progeria, long the subject of dramatic TV specials and, more recently, of YouTube videos, is back in the spotlight as researchers prepare to announce results of the first progeria drug trial. The trial involves 28 children, ages 3 to 18, from 16 countries. Cam is enrolled in a second trial that is testing three drugs instead of one.
Progeria advocates don’t expect a cure but rather a way to prolong the lives of children who otherwise would die young.
“Any results, whether positive or negative, will be important because they will allow us to learn more about progeria,” said Audrey Gordon, president of the Progeria Research Foundation near Boston. “We have great hope that this will be an effective drug treatment, but at this point, we can’t really say.”
On this mild afternoon, Cam roams freely in front of his home, first wearing a helmet, and then taking it off. He rolls in the grass with his sister, Riley, 6, who sits beside him as he throws one of her dolls. The Howards watch the way most parents watch a second child — attentive, but well aware that kids will be kids and scrapes and bruises are inevitable.
“We try really hard not to be over-protective,” says Jason Howard, 34, a Butler native whose parents and siblings live in Western Pennsylvania. “He’s pretty high-energy. He can roll around for hours.”
When Cam falls on his face, inches from the concrete driveway, his mother quickly walks up to him. She picks him up, her hands under his armpits.
“Let’s not do too much falling,” she says. “Not on the cement.”
Cam starts running again, away from his mother.
“He’s a wild child,” his father says.
Cameron Howard was born three weeks early on Sept. 6, 2006. There were no signs of anything unusual. He had soft skin, blond hair and his Dad’s looks. When he was a month old, his mother noticed he wasn’t gaining weight. Stephanie would see friends’ babies and wonder why they were getting plumper and Cam wasn’t.
A month later, Cam’s pediatrician began to weigh him every week and diagnosed him with failure to thrive, a term usually used to describe a growth delay. Doctors who examined Cam told his parents he was OK.
“I wasn’t fretting about it,” said Jason, a computer programmer. “I wasn’t thinking much about it.”
Stephanie grew frustrated after visits to Bronson Methodist Hospital in Kalamazoo, Mich., and to Children’s Memorial Hospital in Chicago. At four months, Cam contracted a respiratory tract infection and lost nearly two pounds in two weeks. That’s when the Howards decided to come to Pittsburgh.
“The worst part was not knowing,” Stephanie said. “We just wanted to know.”
Cameron was only 5 months old during that first visit, not quite old enough to have outward signs of the illness. Signs of progeria typically emerge at 12 to 24 months and, even then, can be subtle and hard to pinpoint. There’s the loss of hair. The veins sticking out of the forehead. The nose with little tissue.
But when Dr. Andrew Urbach examined him for the first time, he knew instinctively what it was. He had seen the illness twice before and here it was again.
“Another kid with progeria walking into my office, how likely is that?” said Urbach, a pediatrician at Children’s Hospital of Pittsburgh of UPMC.
Cam displayed advanced social skills: He looked the doctor in the eyes, examined his surroundings and showed the curiosity that most babies do.
Urbach, however, was drawn to his unusual features: the prominent forehead, the small chin and the hips that didn’t move the right way. Then he noticed the leathery skin on Cam’s abdomen. That sealed it. All he needed was a blood test to confirm the diagnosis — and to tell the Howards.
“It’s not the one we wanted to hear,” Stephanie said.
She and her husband spent that night on the Internet, reading and absorbing everything they could about the illness.
Gene discovery brings hope
Progeria has baffled doctors since English physicians identified it in the late 1800s.
“People would just get the diagnosis and accept it and go home,” said Gordon, whose nephew, Sam Berns, 13, was diagnosed with progeria at 22 months. “We weren’t willing to do that.”
Sam’s parents, both physicians, established the Progeria Research Foundation in 2001 after noting a lack of information about the disease. They built enough support to raise money for research, a major roadblock when it comes to rare diseases.
In April 2003, the foundation and the National Institutes of Health announced the discovery of the gene that causes progeria. A mutation in the gene, called Lamin A, or LMNA, causes cellular instability that leads to premature aging, the researchers found.
“We were in total obscurity, but the gene discovery really opened the doors,” Gordon said.
With the support of researchers from around the world, the foundation began the first progeria trial in May 2007, which was completed in December. For two years, children took a drug known as FTI initially intended to treat cancer. In laboratory experiments, it reversed abnormalities in progeria cells.
The triple-drug trial in which Cam is enrolled uses two additional drugs: pravastatin, a statin used to lower cholesterol, and zoledronate, used for treating osteoporosis. The trial involves 45 children from 24 countries. For Cam, it requires trips twice a year to Children’s Hospital of Boston, where doctors measure everything from how his heart is beating to changes in his bones.
“I don’t think it’s going to reverse the whole disease, at least not at this stage,” Jason Howard said. “Our hope is that it’s going to slow things down.”
The foundation, which has raised $1.4 million toward a $2 million goal to fund the trial, is in the midst of a campaign to find all children in the world who have progeria. They’ve identified 62 — counting the 16 in the United States — in countries as distant as Pakistan and Korea.
A normal life
On a recent pool outing, Cam noticed not all children wore wetsuits; he wears a custom-made suit because his body doesn’t have enough fat and would get too cold.
He took the suit off but quickly realized that if he wanted to play, he’d have to stay out of the pool.
“He’s picking up that he’s different,” his mother said.
Neighbors don’t seem to mind. Cam is a celebrity of sorts in his hometown. When people see him, at the mall or the grocery store, they say “Hey, it’s Cam!” and often, store workers give him lollipops and candy. Some strangers, however, find it hard to approach the family. Adults sometimes remain quiet and let their children ask the questions.
The Howards discovered the best way to deal with questions is to be honest. “He has something called progeria,” they’ll say. Like other families who have a child with progeria, they are considering printing information cards to offer those who ask.
Cam has not developed any major symptoms linked to progeria, although his left-side joints are tight. Every night, his parents help him exercise, stretching his wrists and arms. He comes to Children’s Hospital of Pittsburgh twice a year for checkups of his endocrine system.
His parents constantly encourage him to eat so he can get fat and nutrients to fill his tiny, 20-pound body.
“He wants a cookie, he gets a cookie,” Jason Howard said.
Cam has gone to day care since he was 3 months old. When the time comes, his mother wants to make sure they pick the right school, where children are familiar with Cam.
“I’m going to make sure I go to his school and kids know what he’s all about and what progeria is,” she said.