By Sue Ann Rybak
Six-year-old Nathan and 3-year-old Bennett Falcone of Erdenheim lie on the carpet giggling and tickling each other’s bellies. Bennett, who is wearing a Pac-Man T-shirt, plays with blocks on the coffee table.
After asking their mother, Phyllis, if they can have a Dum Dum lollipop from the nice lady with the tape recorder, they quickly rip off the paper and shove it into their mouth. Phyllis asks Nathan what flavor his lollipop is, to which he quickly responds “root beer.” Nathan is shy and does not move from his mother’s side as she puts together a wooden wagon for their toys. Bennett, however, does not hesitate to reward me with a big hug.
They are typical little boys who love to wrestle, ride bikes and watch “Team Umizoomi.” Nathan’s cheeks turn red as he confesses he loves Taylor Swift, playing his DS and eating mint chocolate chip ice cream.
“I am scared of snakes,” Nathan whispered.
Bennett however likes snakes, watching the otters at the zoo and believe it or not – green beans.
And like every child, they love to dream about what they want to be when they grow up. Nathan dreams of being a teacher.
Sadly, Nathan and Bennett may not have a future unless a cure is found for progeria, which comes from the Greek word for “prematurely old.” It is an extremely rare and fatal disease, which makes their body age eight to 10 times faster than normal children.
To make matters worse, Nathan and Bennett have an extremely rare and severe type of progeria called mandibuloacral dysplasia. In fact, Nathan and Bennett are the only two children in the United States with this rare form of progeria.
Because the disease is so rare, very little is known about the genetic condition. According to Audrey Gordon, executive director of the Progeria Research Foundation, the chances of having a child born with progeria are one in eight million.
“The Falcone boys have a form of progeria that is a bit different from the classic form because the gene mutation differs but is in the same family as the classic progeria mutation,” Gordon said. “Also, the protein that is affected is again related to progerin but it is structurally a little different. Therefore, the boys have a disease that looks like progeria, with some differences. They have more hair, for example.
“We actually know less about what the disease course will be for Nathan and Bennett because we have identified fewer children with their form of progeria. We at the Progeria Research Foundation know of only two families with children who have the same form of progeria that Nathan and Bennett have.
“It’s pretty much your worst nightmare,” Phyllis said.
“As of today, 90 children globally have been found and diagnosed with a type of progeria,” Gordon said.
Neither Phyllis nor Mark Falcone are carriers for the disease.
“It’s extremely rare to have two children with progeria,” Gordon said.
Both boys appeared to be happy, healthy babies at birth. Initially, Nathan was misdiagnosed with a rare connective tissue disorder. Doctors said Nathan’s disorder was a rare occurrence.
“First, they thought he had progeria at 13 months,” Phyllis said. “Then the blood work came back negative. Then, I got pregnant with Bennett and everything was kind of happening the same. That’s when they went back to the drawing board and realized they had a much rarer form of progeria.”
Some symptoms of progeria include a narrow, shrunken or wrinkled face, a large head for the size of the face (macrocephaly), baldness, dry, scaly, thin skin, limited mobility and a short stature.
Both boys have a significant lack of subcutaneous fat, Wormian bones in their skull, clubbed fingers, acroosteolysis (reabsorption of the finger tips) and thickening of the blood vessels.
“It’s hard knowing its gonna get worse,” Phyllis said. “We really don’t know what their life span will be. The average age for kids with classic progeria is 13. But, we don’t know. We are hoping it’s longer. They don’t seem to be aging as rapidly as kids with classic progeria.”
The boys are currently in a clinical trial at Children’s Hospital Boston, which is being conducted through the Progeria Foundation.
“The medical director of the Progeria Research Foundation has a son that has progeria,” Phyllis said. “She started the foundation 10 years ago. They have gone from knowing nothing about progeria to discovering the gene for it. Now, they have medications that they think might show positive signs.
It affects every area of our lives. It’s hard. We want them to be treated normal.”
But, it’s hard to treat them as “normal” when they have the body of a 70-year-old.
“They love to roughhouse, which is very scary because they don’t know why they can’t roughhouse,” Phyllis said. “They can’t go up and down the steps, which isn’t normal for a 3-year-old and a 6-year-old.”
The Falcones also have a 9-year-old daughter, Libby, who hopes someday to be a veterinarian.
“It’s hard trying to make things fair and equal in the house,” Phyllis said. “We try not to give her [Libby] too much responsibility and to be honest with her. We want Nathan to grow up to be strong and independent, but it’s difficult. I worry about the future. Will Libby feel comfortable bringing friends over? Because they do look different.”
Phyllis worries about the boys’ relationships with other kids.
“If it was dealing with them looking different and being differently abled – that’s one thing,” Phyllis said. “But, knowing it’s going to get worse.”
They [the Progeria Research Foundation] have done a lot, but it’s a race against time to find a cure for them.”
The Progeria Foundation was founded by Dr. Leslie Gordon, whose son, Sam Berns, was diagnosed with progeria in 1998.
Audrey Gordon, who is Sam Berns’ aunt, said that before Sam’s second birthday, doctors informed his parents he had the fatal disease.
His doctors said, “There’s no cure, there’s nothing you can do, so, just go home and enjoy the time you have left with your child.”
“We [Sam’s family] were not willing to accept that answer,” Gordon said.
Sam’s parents soon discovered no research was being done on progeria.
“So shortly after, with the help of family, friends and colleagues, we founded the foundation,” she said.
“We built the tools we needed. We soon realized we had to be a comprehensive resource for people in order to promote the research.”
In the spring of 2003, they discovered the gene responsible for progeria – LMNA. Gordon said that the discovery of the gene “opened the door of science.”
“Now, that we knew what caused it, we could figure out ways to correct the defect,” Gordon said.
“Last year, a drug was identified that may also help reduce or eliminate the progerin, which is the enemy protein that causes progeria.”
But it is a race against time – time that many children don’t have.
Last year, the Falcones decided to act. In order to raise awareness about progeria and money for research they decided to publish a calendar entitled “When I grow up…” The calendar features drawings by children of what they want to be when they grow up.
But for the 2013 calendar to be a success, they need kids’ drawings. Parents can drop their kids’ drawings off at the Chestnut Hill Local, 8434 Germantown Ave., until May 18.
The Falcones also hold a fundraiser, “Make a Splash for Nathan and Bennett,” at the Flourtown Country Club, 150 McCloskey Rd., on Sept. 8 from 1 to 5 p.m.
All proceeds from the sale of the $15 calendar and the fundraiser go directly to the Progeria Foundation to fund ongoing research. For more information, go to www.nathanandbennett.org.