by Sue Ann Rybak
By all accounts, Nathan and Bennett Falcone are typical little boys. They laugh and giggle while sitting in their lawn chairs at Bysher Fields, a softball facility in Erdenheim.
“What do you get when you cross a clown and a skeleton,” Nathan, 8, asked Bennett. “I don’t know, what?” replied his 5-year-old brother. “A funny bone,” said Nathan.
A roar of giggles fills the air as Bennett struggles to open the white cap on his bottle of spring water while watching his sister Libby, who plays on the Spartans, a Springfield Township girls’ softball team, throw a ball.
Although Bennett is only 5 years old, his hands are disfigured by acroosteolysis (resorption of bone at distal pharynx).
Acroosteolysis is just one of the many symptoms of progeria, an extremely rare and fatal disease, which causes the body to age eight to 10 times faster than normal children. Worldwide, there are approximately 250 children who have progeria.
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.
Other 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 and clubbed fingers.
Despite their appearance, Nathan and Bennett are, by all accounts, just typical little boys.
The boys’ mother, Phyllis Falcone, said Nathan likes to wrestle with Bennett and loves his Saturday morning sports class. She added that Bennett likes to play with his kitchen play set, piano, and bowling set.
“SpongeBob SquarePants, Mickey Mouse and grilled cheese are just a few of the boys’ favorite things,” Falcone said.
Each brother has his own unique personality.
“Bennett is a little mischievous,” Falcone said. “He sneaked a matchbox car into school by hiding it in his jacket sleeve yesterday. Nathan is a rule follower but sometimes he likes to be the boss.”
Falcone recalled how he recently pointed at his teacher while the rest of the class was working and gestured for her to sit next to him. Nathan’s cheeks grew red as he adamantly denied the accusation.
“Nuh-uh,” said Nathan, who dreams of being a teacher when he grows up.
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.”
Fighting the clock
“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.”
In October, Falcone attended a retreat entitled “Journey Forward in Faith,” with a group of women from the First Presbyterian Church of Ambler. There Phyllis connected with Amy Ruhf, athletic trainer at Lower Moreland High School.
“As I thought and prayed over what was said at the retreat, I felt a calling not only to raise funds for Progeria Research Foundation but also to do something that would increase awareness about progeria and honor those children and families who are affected by it,” said Ruhf, of Ambler.
This summer Ruhf will embark upon a journey of a lifetime – a 250-mile hike called Hike4Hope to raise awareness and funds for progeria research.
“I have never hiked a mile in my life,” said Ruhf, who admitted she has only gone camping once or twice in her entire life.
But Ruhf isn’t the type to just sit back and wait for something good to happen.
“God willing, I will hike 250 miles, one mile for every child diagnosed with progeria, a fatal premature aging condition,” said Ruhf, who plans to begin her hike on the Appalachian Trail on June 20.
Ruhf said she chose the name Hike4Hope, from the bible verse Jeremiah 29:11, which states “For I know the plans I have for you, declares the Lord, plans to prosper you, and not to harm you; plans to give you hope and a future.”
“Children with progeria may not be able to walk or hike one mile, but I can, and I can carry them with me in my thoughts and prayers as I go,” Ruhf said.
Ruhf hopes to raise $25,000 for the Progeria Research Foundation.
“A cure is out there somewhere – it just hasn’t been found, yet,” she said. “I am confident that God will use this time of testing to fulfill his purposes in my life and in the lives of those around me.”
And a cure could be on the horizon.
In May, a collaborative study by the Progeria Foundation, Brown University, Hasbro Children’s Hospital, Boston University and Boston’s Children’s Hospital found that a drug originally developed to treat cancer can extend the lives of children with progeria, also known as Hutchinson-Guilford progeria syndrome (HGPS).
The study published in Circulation showed an increase in life span of children with progeria by at least 1.6 years.
“These findings give hope to the children and families who face this incurable and fatal disease. Through the support of the Progeria Research Foundation (PRF), these researchers have taken one more step in the process of finding a cure for this disease,” said Elizabeth G. Nabel, president of Brigham and Women’s Hospital.
Audrey Gordon, executive director of PRF, said she was “immeasurably grateful” to those who generously provide funding for research and drug trials that make such progress possible.
“This is an historic finding in our quest to improve health and extend the lives of children with progeria,” Gordon said.
Ruhf plans to hike approximately 10 miles each day, beginning at the Delaware Water Gap near I-80, hiking Southwest to the Pennsylvania-Maryland border. Once she reaches Maryland, she will turn back and hike 20 to 40 more miles into Pennsylvania where she will reach her final destination, Caledonia State Park. In addition to donations, she is hoping to find people to join her for all or part of the hike.
Falcone said Ruhf has already done a great job of raising awareness about progeria and “helping to focus on finding a cure for this fatal disease.”
“We are continually humbled when people step forward and selflessly donate their time and energy to join our fight for Nathan and Bennett’s future,” Falcone said.
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