ShareThisFive-year-old Sarah Kennedy may only weigh 16 pounds, but her personality shines big when she beams her smile at a stranger from the safety of her grandfather Chris Kempf's arms.
Sarah is one of only 15 children in the United States known to have progeria -- the disease that causes premature aging. Children with progeria typically die in their teens from heart disease.
Sarah lives in Rockport, Ind., with her parents Cheryl and Mark Kennedy and four brothers and sisters.
"She is adorable. Just very, very sweet," said Audrey Gordon, executive director of the Progeria Research Foundation.
So few children in the country are known to have the disease and Gordon has met most of them. Only 52 children worldwide are known to have it, Gordon said, although researchers believe there may be more who aren't known about.
Although they look healthy at first, children begin showing signs of progeria around two years old. Signs of progeria include growth failure, loss of body fat and hair, aged-looking skin, stiffness of joints, hip dislocation, hardening of the arteries, heart disease and stroke.
But there is hope in the form of a new drug being tested by the foundation.
The Kennedys have been flying Sarah to Boston every three months to be in a study of the drug. She is one of 27 children from 16 countries participating. The study will finish this fall.
Researchers at the foundation have identified the gene responsible for progeria. From there, the scientists discovered what Gordon called a "mutant protein." The trial medication works by blocking a molecule that attaches to the protein and causes progeria.
"This drug is designed to not allow that to happen," Gordon said.
She said the drug eventually could cure the disease, but she cautioned that the study results aren't known yet and will have to be reviewed by medical peers and published in a journal before the drug has a shot at being approved for use.
Until then, doctors can only recommend treatments aimed at maintaining the children's quality of life for as long as possible: a daily aspirin for the heart; nutritional supplements to help keep up appetite and body weight; physical therapy to combat the disease's affects on the body.
Not having a cure has been the hardest part of it all, Cheryl Kennedy said, so participating in the drug trial was never even in question for the family.
"When you are told your child has a disease and you just have to wait for her to die, you will do anything," she said. "When you have a little bit of hope, how can you not? To know there are children out there who are sick and dying and they can't do anything. For this disease to only affect children is sad."
The foundation has had to raise money to fund the research largely from private donations, Gordon said, making raising awareness of the obscure disease important.
"If it was as common as cancer, everybody would know about it," Mark Kennedy said.
Sarah has no understanding of her condition yet, and for now her parents have been happy to let her enjoy her childhood as unimpeded by the reality of her condition as much as possible. She attends preschool four days each week, plays with Barbie dolls and loves Hannah Montana.
"She is normal in our family," Cheryl Kennedy said. "She is just starting to question about her hair."
So far, Sarah has had very few health complications from her progeria. She hasn't needed hospital stays or special care, her parents said, just an aspirin for her heart and arthritis pain and the trial medication.
"Her health is completely perfect -- for a woman who is 35," Cheryl Kennedy said. "She is 100 percent girly-girl. She loves to dance. To see her do that is actually a joy."
(Contact Mark Wilson of The Evansville Courier in Indiana at wilsonm(at)courierpress.com.)
