Parents look for cure for rare progeria disease
December 3, 2012 (WPVI) -- Some local parents are desperate to find a cure for a rare disease that will likely take their boys away from them at a young age.
The mother tells Action News she dreads the day she has to tell her two boys about their prognosis and that they may not get to live out their dreams.
Researchers say there is new hope, but it is still very much a race against time.
The boys are happy, friendly and energetic.
Nathan is a big baseball fan. His favorite team is, of course, the Phillies.
But while Nathan is 7 and Bennett is 3, they have the characteristics of much older adults.
Their skin is thin, veins prominent, they are losing their hair and both struggle to gain weight.
They also lack the flexibility most other kids have, like their sister Libby, who was adopted.
Their parents, Mark and Phyllis Falcone of Springfield Township, didn't get an official diagnosis for Nathan until Bennett was born and started to show the same symptoms.
They were then told both boys have an extremely rare form of progeria, a genetic disease that speeds up aging.
"It was horrible, horrible; the worst day of my life," Phyllis said.
"Just devastating, very hard to hear and very hard to process even," Mark said.
Kids with progeria face osteoporosis and progressive heart disease.
The average lifespan for classic progeria is 13 years.
But recently there has been promising news from a clinical trial out of Boston Children's Hospital.
A drug was shown to help some kids gain weight, improve their bone density, and slow down the effects of heart disease.
"To go from a disease that wasn't really known a decade ago to already have treatments that are beginning to show the kind of changes in the areas where the kids are actually dying of complications is pretty exciting," Dr. Mark Kieran, the head researcher, told Action News via satellite.
The goal is to prolong the lives of kids with progeria, but Dr. Kieran says the research may also give us clues for finding the so-called fountain of youth.
"I think there's little question based on what we have learned from this very rare disease, that educates cells on their aging process and if you can influence that, I think you have an opportunity to slow down that process," Dr. Kieran said.
Still he says that discovery may be years away.
For now the focus is on kids like Nathan and Bennett.
The Falcones try to give the boys a normal, happy life, but they feel as if they are in a race against time.
"If we don't find a miracle, get a miracle, we're going to outlive our children," Phyllis said.
And the Falcones and many other families raise money for the cause; that is largely how the studies are funded.
But because Nathan and Bennett have a very rare form of the disease, they are the only ones in the United States with it, they're not sure if they will have the same results as others on the trial drug.
For more on Nathan and Bennett's story, visit: www.nathanandbennett.org
For more on the latest research, visit: www.progeriaresearch.org
healthcheck, ali gorman, r.n.
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