by Sue Ann Rybak
While fun is the order for the 8th annual Make a Splash on Sunday, Sept. 9, from 11 a.m. to 3 p.m. at the Flourtown Country Club, 150 McCloskey Road in Flourtown, the stakes couldn’t be higher.
The family-friendly event includes swimming, dancing, games, raffles, a silent auction, a DJ, the Philly Phantic and more, is being held to benefit the Progeria Research Foundation (PRF) – a foundation looking for a cure for an incredibly rare condition that effects one in 6 million children.
Incredibly enough, two of those children are Erdenheim residents.
Phyllis and Mark Falcone, whose two sons have an extremely rare and severe type of progeria called mandibuloacral dysplasia type B, started the fundraiser, now in its eighth year, to raise desperately needed funds for research. The disease is so rare that Nathan and Bennett are two of only three children in the United States with this rare form of progeria.
Progeria, also known as Hutchinson-Guilford progeria syndrome, is a fatal genetic disease which causes rapid aging in children. Children with classic progeria usually die at an average age of 13 from heart attack or stroke.
Nathan recently turned 13 in August. Bennett will turn 10 in December.
“It’s a race against time to find a cure,” said Phyllis. “The Progeria Research Foundation has accomplished amazing things in a short amount of time; from identifying the gene responsible for progeria to possible treatment options and clinical trials.”
In September 2012, the PRF released the results of the first-ever clinical drug trial for children with progeria. The clinical trial, completed at Boston only six years after scientists identified the cause of progeria, showed that a drug, FTI lonafarnib, which Nathan and Bennett are both on, had a positive effect on weight gain, hearing, bone health and, most importantly cardiovascular health.
And while pharmaceutical companies may not see the benefit in finding a cure for a disease that only affects one is six million children, Falcone said progeria research benefits everyone because children with progeria are genetically predisposed to premature, progressive heart disease, and heart disease is the LEADING cause of death worldwide.
The Falcone family recently returned home from the boys’ final visit of their current clinical trial.
In a summary of the trip on her Facebook page, Phyllis said that Nathan and Bennett were “two of the early participants in this clinical trial which included two medications lonafarnib and everolimus.”
She said the boys have both been lonafarnib for over eight years and began taking everolimus in August 2016 as part of their current trial. She added that many children are just beginning to participate in the two-year clinical trial involving the drug everolimus.
“It’s amazing because we are one of the closest families geographically and other participants fly in from all over the world,” she wrote. “Every time we have completed a clinical trial, PRF has rolled us into a new clinical trial with a new possible treatment. This time we were not so fortunate because PRF has to wait until all the kids have completed the current study before beginning to look at the data to determine if the everolimus is affective.
“So, we are continuing on the Lonafarnib and do not need to return to Boston for four years unless some new possible treatments are discovered in the meantime. FOUR YEARS!! In a race against time that seems like a long time!”
Sam Berns, who also had progeria and was the subject of the HBO documentary “Life According to Sam,” died when he was 17 years old. Unless a new clinical trial becomes available before then, Nathan won’t be involved in the current cutting-edge trial.
She said while new research is always being conducted through PRF, it takes a long time to get approval from an Institutional Review Board under the Federal Drug Administration regulations.
Phyllis went onto say that test results found that the boys’ cholesterol is “slightly high…but still within normal limits.”
“In the past, both Nathan and Bennett had ‘rumbling’ in their necks and thickening of the blood vessels,” she wrote. “That is gone! They are still obviously not physically putting on weight or growing at the rate of their peers, and Dr. Gordon said they have not seen any weight gain in any of the kids. One of Nathan’s arteries to his heart is mildly dilated, so we have to have him followed by cardiology to make sure it doesn’t get worse.
“Whew! So, some good news and some bad new, but it’s always emotional to focus on progeria, hear words like ‘mortality,’ see our kids go through all the testing and hearing all of what is ‘wrong’ with our boys when there are so many things RIGHT!”
Tickets are $15 for adults ($20 at the door) and $10 for kids ages 2-12 years old. ($15 at the door). Purchase tickets at facebook.com/events/177772899726232/ For more information about Nathan and Bennett, or to make a donation, visit https://www.facebook.com/nathanandbennett/