by Sue Ann Rybak
The Falcone family will host its fourth annual “Make a Splash for Nathan and Bennett” fundraiser to benefit progeria research on Sunday, Sept. 7, at the Flourtown Country Club, 150 McCloskey Rd., from 11 a.m. to 3 p.m.
“It is difficult to continue fundraising, putting ourselves out there and asking for support,” said Phyllis Falcone, the mother of Nathan and Bennett, two little boys who have progeria, an extremely rare genetic disorder that causes rapid aging in children. “But when your son asks you if he will grow old enough to be a Dad, you remember how important it is to keep on fighting for a cure.”
To make matters worse, both Nathan and Bennett have an extremely rare and severe type of progeria called mandibuloacral dysplasia type B. In fact, Nathan and Bennett are the only two children in the United States with this rare form of progeria.
According to Audrey Gordon, executive director of the Progeria Research Foundation (PRF), 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,” said Gordon in an interview with the Local two years ago. “Also, the protein that is affected is again related to progeria, 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,” she said. “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 extremely rare to have two children with progeria,” Gordon said.
Neither Phyllis nor Mark Falcone are carriers for the genetic disease.
In June, the Local wrote an article about Amy Ruhf, an athletic trainer at Lower Moreland High School, who Falcone recently met at a retreat entitled “Journey Forward in Faith,” with a group of women from the First Presbyterian Church of Ambler. After learning about Falcone’s boys, Ruhf decided to hike 250 miles – one mile for every child diagnosed with progeria – to raise awareness and funds for progeria research.
According to the Progeria Research Foundation, there are roughly 250 children diagnosed with progeria.
“Just the awareness alone that “Hike for Hope” raised was huge, but also, the money that she raised was amazing,” Falcone said. “I don’t think anybody could had predicted that it would have been so successful.”
Ruhf raised almost $40,000 for progeria research. Falcone said it reminded her of the difference just one person can make.
“It was amazing,” she said. “The ripple effect of one person.”
Falcone said she hopes the family’s annual Make a Splash for Nathan and Bennett will be just as successful.
But time is running out for Nathan, 9, and Bennett, 5.
“We really don’t know what their life span will be,” Falcone said. “The average age for kids with classic progeria is 13. But, we don’t know. We are hoping it’s longer.”
Children with progeria are genetically predisposed to premature, progressive heart disease, and heart disease, which is the leading cause of death worldwide.
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.”
Falcone said they try to make every day as normal as possible. On the inside they are just normal 9 and 5 year olds.
Both Nathan and Bennett love playing SkyLanders Swap-Force video game, riding bikes, playing with Legos and eating Oreos – only the middle of course.
When Nathan was asked if he was excited about going back to school, he replied “I am NOT” as he swung on the swings. He sighed and added “I am starting the grade with the PSATs – third grade.”
This year marks two important milestones for the Falcone family. On Sept. 3, Libby, the Falcone’s 11 year old daughter, will begin middle school and Bennett will begin kindergarten.
Like every parent, Falcone has mixed feelings about sending her youngest child off to kindergarten.
“It’s bittersweet,” she said. “I don’t know how I am going to be about it when they actually start.”
Falcone said Bennett took his first ride on the bus last Tuesday, Aug. 26. Because of his small stature and low weight, he needed a boost to get up the first step.
“Nathan helped him up and the bus driver let him ride with Bennett on the kindergartners’ practice run,” Falcone said. “ I took a picture of him, and all you could see was the top of his head on the bus.”
And while Nathan has an aide at school, Bennett will not have an aide to help him.
“I don’t know how I feel about that because Bennett is more adventurous,” Falcone said. “He’s definitely more stable than Nathan, but he has more energy. He is less aware of his limitations than Nathan. Nathan will try things, and he knows if he can’t do it. Whereas Bennett just goes full throttle. It’s a little scary. I am sure I’ll be nervous, but I’m nervous at home, too. I am nervous all the time that they are going to fall down the steps or bump their head. It’s a high level of anxiety – with their safety. I worry constantly that I am going to hear ‘bump, bump, bump’ and see them falling down the steps.
In the Spring, the Falcones had a couple of close calls.
“Bennett had two hematomas one on each side of his head from leaning back in his chair at school,” Falcone said. “It’s a little scary. But, it’s hard to tell them to stop when they are playing. It’s hard to say ‘you guys need to calm down. Stop having fun, stop being kids, stop acting like brothers.’ That’s what boys do they wrestle.”
Falcone said the stress of raising two special needs kids can be hard on the rest of the family. Recently, someone wrote Taylor Swift, and she sent two autographed photos – one for Nathan and one for Bennett.
“It’s hard on her,” Falcone said. “Libby feels left out. It’s always about Nathan and Bennett. But, at the same time, she doesn’t understand how important it is. We can’t truly express that to her because it would be too much for her handle. That makes it hard for everybody, I think. When you feel you can’t be honest with your kids, that’s really hard.”
She said for the most part the boys think of themselves as regular kids.
“One time Nathan was filling how his emergency form for school and he had checked off ‘no health problems,’” Falcone said.
However, she knows they understand on some level.
“One time I overheard them talking,” Falcone said. “I was upstairs and something came in the mail from the Progeria Research Foundation, and, of course, it had a picture of a kid with progeria on it. Bennett saw it and he said, ‘Nathan, oh, my gosh! Look at this kid! This kid looks weird!’ and I was horrified. But, I didn’t intervene because I thought I’ll wait and see how he (Nathan) handles it.
“And Nathan said ‘Bennett, that’s not nice. Some people think that we look weird.’ He said, ‘we have the same thing, and people think that we look weird.’ And Bennett didn’t even really respond,, but he heard him. And Bennett was like ‘Wait, we have progeria?’ It was interesting to hear that interaction. And Nathan said, ‘Well, what if people laughed at us? You wouldn’t like that now would you?’ And Bennett said, ‘Well, No.’ But, it was interesting to hear Nathan respond to him.”
So, how do the Falcones respond to questions from their sons about whether they will ever be married or be a dad?
“The truth is we don’t really know how long their life span will be or if they will ever be able to be dads or not, that’s why we continue to fundraise to give them a fighting chance,” Falcone said.
“We know there’s a cure out there,” she added. “Scientists just haven’t found it, yet.”
And a cure could be on the horizon.
Audrey Gordon, executive director of the Progeria Research Foundation (PRF), said in 2012 that the first clinical drug trial for children with progeria demonstrated that the farnesyltransferase inhibitor (FTI) helped “the children gain additional weight, improve bone structure and, most importantly, experience, increased flexibility of blood vessels.”
“In 2013, we saw evidence that lonafarnib may decrease stroke, headache and seizure rates,” she said. “Now in 2014, up to six years have passed since the children began taking the drug, and we are beginning to see what we hoped for: that those improvements may translate into a longer lifespan.”
Gordon added that the new study showed an average estimated survival increase of 1.6 years within the six years of treatment.
“Time will tell if the estimated life extension is longer than 1.6 years,” she said. “The most valuable discovery in treating progeria thus far has been the realization that some key aspects of the disease can be improved.”
Gordon said that to date, children from 24 countries speaking 17 different languages have participated in the clinical trials.
“The Progeria Research Foundation is now expanding the current trial so that every child has a chance to participate,” she said. “This means a doubling of the number of children, and a $3 million expense, so funds raised at events like Make a Splash make it possible for every child to have a chance at a longer, healthier life.
Gordon added that while advancements in treatment encouraging, many aspects of Progeria were not affected.
“Children continue to develop the disease and need additional treatments to thwart the fatal heart disease that ensues,” she said. So, the Progeria Research Foundation continues to explore other drug candidates that will be even more effective and ultimately cure Progeria.
To buy tickets for Make a Splash for Nathan and Bennett or to make a donation go to www.eventbrite.com/e/nathan-and-bennett-make-a-splash-2014-tickets-11332021381
Tickets are $20 for adults and $10 for kids 2 years old and older.