Photo by Rose Mary DeCesaris

On a warm Saturday morning in August, Al DeCesaris bounds along the Billy Goat Trail, the popular hiking spot on the Potomac River in the C&O Canal National Historical Park. He sips water from a hydration pack on his back, contemplating the two paths in front of him, unsure which is the official trail and which is the alternative path forged by hikers. He turns to his hiking partner with a wide grin, motioning to the one on the right. “Should we try this one?” he says.

DeCesaris with his niece Jenna, who was diagnosed with Sturge-Weber syndrome when she was an infant. Photo courtesy of Al DeCesaris

The trek is part of the training regimen for his next “adventure for charity.” DeCesaris, 46, plans to lead a running and hiking trip covering a strenuous 32-mile loop of the Appalachian Trail in Virginia’s Blue Ridge Mountains, known as the “Triple Crown” for its three spectacular viewpoints. It will be the second outing organized by Difference Makers Global Community, which DeCesaris founded as a way to bring together people with an appetite for thrill-seeking and a desire to raise money and awareness for charitable causes. In June, he and his older brother, Joe, organized and completed the first Difference Makers trip—a one-day, 24-mile hike from the northern rim of the Grand Canyon down to the Colorado River and back up the other side—with nine others, each raising money for their own causes.

For DeCesaris, Difference Makers is a way to share his penchant for taking on extreme physical challenges to benefit charity. He initially envisioned the Triple Crown trip as a two- or three-day hike, which is how it’s described by most online guides. But that approach didn’t have enough “sex appeal,” he says, so he changed the plan. Participants will run all 32 miles in a day.

DeCesaris’ cycling route took him from Santa Monica, California, to Ocean City, Maryland. Courtesy of Al DeCesaris

Those who’ve only known DeCesaris since he bicycled across the country in 2013, ran more than 1,900 miles from Lubec, Maine, to the Florida Keys in 2014, and hiked the 555-mile Camino de Santiago in Spain in 2017 might not be surprised that the Bethesda resident was looking to pump more adrenaline into an already strenuous hike. But until six years ago, DeCesaris was hardly an extreme athlete. Growing up outside Annapolis, he was better known for his Atari skills than his athletic prowess. As an adult, he ran a few miles now and then, but was more focused on his career and having fun with friends—often over drinks at a bar or while tailgating before a football game.

Then Jenna was born.

In 2004, DeCesaris’ older sister, Ida Heck, gave birth to Jenna, her fourth child. A large birthmark on the right side of Jenna’s face covered part of her forehead, the area around her eye and the upper half of her cheek. Before Jenna left the hospital, her pediatrician told her parents that she suspected the discoloration could have been caused by a malformation of the blood vessels in the skin, known as a “port-wine stain” because of its reddish tinge. Sometimes the mark can be purely superficial, but in some instances the vascular irregularities can also impact the brain and eyes, a disease known as Sturge-Weber syndrome. Jenna’s doctor recommended that she see a specialist.

DeCesaris in Pittsburgh on his bike trip across the country in 2013. Photo by Meredith Blake Matthews

Named after two English physicians who helped define the syndrome, Sturge-Weber is considered a rare disease, impacting an estimated 1 in 20,000 to 50,000 births, according to medical experts. The blood vessel malformations can cause nerve damage, leading to complications such as glaucoma and seizures. The severity of symptoms can vary, with some children experiencing mild seizures and others suffering from frequent seizures starting in infancy, leading to intellectual and developmental disabilities. Treatment for Sturge-Weber syndrome has typically focused on the symptoms: laser therapy to lighten the birthmark, anticonvulsant medications for the seizures, and surgery to correct glaucoma. Because the severity of symptoms varies so widely, life expectancy for those with Sturge-Weber is difficult to define. Most people live well into adulthood, but often with worsening seizures and other problems, including migraines, blindness and declining neurological health, experts say.

Within two weeks of Jenna’s birth, Ida and her husband, Ed, took her from their home outside Annapolis to The Johns Hopkins Hospital in Baltimore to see Dr. Anne Comi, a pediatric neurologist and Sturge-Weber expert who now serves as director of the Hunter Nelson Sturge-Weber Center and is an associate professor in the Division of Neurology at the Kennedy Krieger Institute and Johns Hopkins Medicine. The birthmark and evidence of glaucoma were enough for Comi to agree with the pediatrician’s suspicions; an MRI later confirmed the diagnosis of Sturge-Weber. “It was a pretty devastating diagnosis at the time,” says Jenna’s grandmother, Rose Mary DeCesaris, who lives in Edgewater, Maryland, near the Heck family.