March 8, 2012 -- When she celebrated her 14th birthday Dec. 3, 2011, Hayley Okines had surpassed the average lifespan for someone born with progeria, the rare disorder that turns children old before they reach adolescence.
Because progeria ages the body at eight times the normal rate, Hayley's skin is thin and papery; her bones fragile and her organs threatened by diseases typically associated with the elderly. Progeria patients die from heart attacks or strokes at an average age of 13, a number that carried extra weight for Hayley because doctors had told her parents she'd "only live to thirteen," the British teen recalls in a new book, "Old Before My Time: Hayley Okines' Life With Progeria."
The disease, which takes its name from the Greek word "progeros," meaning prematurely old, involves a mutant protein called progerin that accelerates physical aging, but leaves intellect intact. In the book, Hayley's fantasy of meeting pop idol Justin Bieber (realized in a 13th birthday surprise fostered by her Twitter followers) and her attitude about school ("I hate school. The work is pointless.") make clear she's a pretty regular teen in most respects.
Yet, she cannot help feeling different. She's smaller than her younger siblings, wears bandannas to cover a bare scalp and can't find school uniforms to fit her tiny frame. "Mum says I am one in eight million because my condition is so rare," she says.
Hayley, of Bexhill, England, is among 89 children in 32 countries living with progeria, according to the "Find the Other 150" campaign, which is trying to identify all of the estimated 150 children with the disease. Unlike most of them, Hayley has grown up in the spotlight, the subject of British television documentaries with titles such as "The Girl Who Is Older than Her Mother," and news stories tracking her participation in clinical trials at Children's Hospital Boston and the nearby Dana-Farber Cancer Institute. She has numerous followers of her Facebook page, Web page and Twitter posts. She's swum with dolphins in the south of France, toured the Egyptian pyramids and met with such notables as Prince Charles.
She's among three progeria patients featured in an ABC special with Barbara Walters, "7 Going on 70," which will have an encore showing Saturday at 10 p.m. ET. Two U.S. girls interviewed for that program, Lindsay Ratcliffe, now 8, of Flat Rock, Mich., and Kaylee Halko, also 8, of Monclova, Ohio, are thriving and looking forward to participating in the next planned clinical trial in Boston, their mothers told ABC News.
Hayley's book, co-written by her mother, with each contributing separate chapters, demonstrates that by any measure, Hayley leads an extraordinary life. The blue-eyed baby who wasn't growing or gaining weight as quickly as other infants still took her first steps at 10 months and was having conversations by 18 months. "She definitely seemed much wiser and more inquisitive than other 20-month-old toddlers," her mother writes.
Her parents were crushed when Hayley was diagnosed with Hutchinson-Gilford progeria syndrome. But Hayley has had the good fortune to grow up at a time when science might provide her with a better, longer life than patients diagnosed in previous decades.
Before 1999, Doctors Had Nothing to Offer Patients
"Before 1999, doctors would say there's nothing out there, and nothing you can do," said Audrey Gordon, executive director of the Progeria Research Foundation in Peabody, Mass., created to help patients and their families and to fund research into treatments and an eventual cure. "That answer wasn't acceptable to us as a family."
Gordon's sister and brother-in-law, Drs. Leslie Gordon and Scott Berns, established the foundation after their son, Sam, was diagnosed with progeria in 1999. Leslie Gordon serves as the foundation's medical director; Berns, its board chairman.
The foundation supported research that led to the discovery in 2003 of the mutant gene responsible for progerin, the protein in progeria that makes cells stop growing and die. It has funded the human trials of drugs targeting that protein.
"We're not just doing work in the lab that may or may not help kids in decades," Audrey Gordon said Wednesday.
Beginning with forming a foundation in 1999, discovering the gene in 2003 and launching treatment trials in 2007 "we are moving at a pace that's virtually unheard of in the scientific community," Gordon said.
When Hayley came to Boston for that first clinical trial in 2007, she dreamed of "long hair that I could tie back in a pink hair band." At first, the experimental drug called lonafarnib made her terribly sick, and her parents wondered "had we made the biggest mistake of our lives?" her mother recalls.
Hayley didn't get the hoped-for lush tresses, but some of her eyebrow hairs grew back.
Since participating in a three-drug trial of lonafarnib, cholesterol-fighting pravastatin and the osteoporosis drug zoledronate, Hayley's cheeks look fuller, her skin healthier and a CT scan of her heart showed no deterioration of her arteries, her mother reported.
Hayley's on board for a four-drug trial that adds everolimus, which in preliminary resarch enhanced cells' ability to get rid of progerin. "This is a new avenue for attacking progerin and we are encouraged by its potential," Dr. Leslie Gordon said in an email.
Hayley says that because of the drugs, "I feel like I have a future to plan. I think that maybe when I grow up, I will get married. Mum says it will have to be someone very special to see beyond my progeria."
Toward the book's end, Kerry Okines reiterates her conviction that Hayley "will be the one child to prove the experts wrong, and so far I seem to be right."
Watch "20/20's" progeria special Saturday at 10 p.m. ET.