"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.