by Sue Ann Rybak
Nearly everyone knows someone whose life has been impacted by cancer. Maybe, we are cancer survivors ourselves, have children who are currently receiving treatment, lost a loved one to cancer or know someone who was recently diagnosed with cancer. Cancer doesn’t discriminate.
There is hope, however. Thanks to research, there are many treatment options available, but for children with extremely rare diseases like Progeria, also known as Hutchinson-Guilford progeria syndrome, a fatal genetic disease which causes rapid aging in children, there are no FDA approved treatment options. Without funds for clinical research trials, there is no hope of finding a cure for these children. For many children with progeria time is running out, but you can stop the clock.
Erdenheim resident Phyllis Falcone, 46, who is currently receiving chemo for cancer and whose two sons have an extremely rare and severe type of progeria called mandibuloacral dysplasia type B, said since being diagnosed with breast cancer she is “faced with numerous treatment options for breast cancer and lots of support.” Despite struggling with the emotional, physical and financial effects of cancer, her family is working “like crazy to fund research to discover treatment options” for their sons.
This year, the family will hold its ninth annual “Make a Splash for Nathan and Bennett” fundraiser to benefit progeria research on Sunday, Sept. 8, at the Flourtown Country Club, 150 McCloskey Rd., from 11 a.m. to 3 p.m. Their goal this year is to raise $50,000.
“Having my own medical challenges is so different than watching my kids struggle,” she said. “I would take breast cancer treatment any day over watching my sons deal with the affects of Progeria.”
Not only do Nathan and Bennett have progeria, but their form of the disease is so rare that they are two of only three children in the United States who have it. Children with classic progeria usually die at an average age of 14 from heart attack or stroke.
She said this past spring, Nathan, now 14, fractured his fibula from running around on color day. Earlier this year, Bennett, now 10, was sobbing when he learned he was not allowed to jump on a trampoline with friends because of the risk of hip dislocation. Phyllis and her husband Mark want what every parent wants for their children for them to grow up and be happy and healthy. Simple things like being able “to run around with their peers and keep up.”
She wants them to be able to grow hair so they can participate in crazy hair day and style their hair the way they want instead, of hiding the few locks they have under a baseball cap to protect them from the sun or, worse, bullying.
“They miss out on much more than people know and require our help to do many things,” she wrote in an email. “Nathan came home from one doctor appointment crying because he had actually gotten shorter in the last two years. We try to find activities for them, but, especially for Bennett, it is difficult. If he were a healthy kid, he would be part of multiple sports teams. He is missing out on all those things kids learn from being part of a team, the time with other boys spent traveling to and from practices. We want them to be able to ride their bikes home from school with their friends and boogie board at the beach, instead of watching kids much younger than them. I am sure any parent can imagine watching their son stand at the edge of the water looking longingly at others in the ocean. He [Bennett] knows he is not strong enough, but as his 16-year-old sister Libby said, ‘if he didn’t have progeria, he would be in the water all day long!’
“I want them to be able to go places without people staring at them! School supply shopping is not fun, because children and adults stare, and I can only watch while my sons pull their hats down further.”
It’s a race against time to find a cure. While many pharmaceutical companies do not see the benefit in finding a cure for a disease that affects one in 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.
Thanks to the Progeria Research Foundation, which was founded in 1999, scientists went from knowing very little about progeria to releasing the results of the first-ever clinical trial for children with progeria in 2012. 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.
In the past, every time the boys completed a clinical trial, PRF enrolled them into a new one with a new possible treatment. Last year, they found out they were not eligible for another clinical trial.
“We do not need to return to Boston for four years unless some new possible treatments are discovered in the meantime. In a race against time that seems like a long time!”
Tickets are $15 for adults ($20 at the door) and $10 for kids ages 2-12 years old. ($15 at the door). You can register, make a donation or become a splash sponsor online.
If you are unable to attend Make-a-Splash, but would like to make a donation to support this family, checks may be made payable to the Progeria Research Foundation and mailed to: Progeria Research Foundation, Fighting for Their Future Chapter, P.O. Box 641, Flourtown, PA 19031.