The Mighty | Al DeCesaris | June 2, 2016
In each of us is the power to make a difference. This isn’t just rhetoric. This is something I wholeheartedly believe, something I’ve observed time and again. So when the cause of Sturge-Weber Syndrome — the rare neurological disorder that afflicts my 10-year-old niece Jenna, was discovered, I knew it was my time to help further the efforts to find a cure.
I was determined to make a difference in Jenna’s life and in the lives of all those suffering with this devastating disorder. Thus, on the heels of my 2013 cross-country bike ride, which I chronicled in my book, “Crossing America For A Cure: A Bicycle Journey Of Inspiration And Hope,” I began training for a new charity event — a solo athletic endeavor that would have me running close to a marathon a day through 14 states down the entire East Coast.
I suppose I could have come up with something a little less arduous (no doubt, my legs would have appreciated it), but I wanted to do something unique and eye-opening to create as much awareness and raise as much money for Sturge-Weber research as possible. My plan was to run (walk … and even crawl, if necessary) on average 22 miles a day for three consecutive months from Lubec, Maine to Key Largo, Florida. Picking up each day exactly where I left off the day before, I would cover every mile (every foot actually) down the coast.
Now, it’s no secret I’ve never been much of an athlete. And I didn’t have the running experience that would lead one to believe I could accomplish something this ambitious. In fact, even though I planned to run close to a marathon a day, I’d never actually run a marathon. Still, I have something within me that I knew would make this seemingly impossible task achievable – purpose. My purpose is my desire to help my beautiful young niece Jenna live a better life. For her and because of her, I am inspired to fight Sturge-Weber Syndrome on her behalf.
Jenna is the youngest child of my sister Ida and her husband Ed. She’s playful, spunky, and perseverant, and has a smile that lights up her face. Yet, even with her high-spiritedness and determination, because of her medical condition Jenna has had a very difficult life.
Sturge-Weber Syndrome is a congenital, neurological disorder that causes abnormal blood vessels to develop in the skin, eyes, and on the surface of the brain. Although it manifests differently in each person affected, for Jenna it has resulted in a pronounced port-wine birthmark on the right side of her face (from her hairline to the lower part of her cheek) and glaucoma in her right eye. Despite the severe problems these conditions present, it’s the abnormal blood vessels on the surface of her brain that pose the greatest threat because they often lead to other serious health complications including seizures, strokes and stroke-like episodes, impaired motor coordination, paralysis, developmental delays, learning disabilities, migraines, mood and behavior problems, and even death.
Over the years, Jenna has suffered debilitating seizures and stroke-like episodes, which have left her physically and mentally impaired. To see her suffer on a daily basis is heartbreaking. Yet, her bravery and resilience, as well as Ida’s tireless and unwavering dedication to her well-being, are truly inspiring.
With Ida leading the way, not long after Jenna was diagnosed, my family and I began our volunteer efforts to create awareness and raise funds for the research and treatment of Sturge-Weber Syndrome. Since then, we have hosted numerous charitable events which have created considerable awareness and raised over $1,000,000. This money has directly supported the work of the Hunter Nelson Sturge-Weber Center at Kennedy Krieger Institute, and helped fund research that led to the discovery of the cause of Sturge-Weber Syndrome.
Since shortly after her birth, Jenna has been in the care of Anne Comi, M.D., the Director of the Hunter Nelson Sturge-Weber Center and co-author of the research that produced the ground-breaking discovery. According to Dr. Comi and the other senior authors: Jonathan Pevsner, Ph.D., Professor in the Department of Neurology at Kennedy Krieger Institute, and Douglas A. Marchuk, Ph.D., Director of Molecular Genetics and Microbiology at Duke University School of Medicine, Sturge-Weber Syndrome and port-wine birthmarks are caused by a somatic activating mutation in the GNAQ gene.
“This is a complete game changer for those with Sturge-Weber Syndrome and the millions born with port-wine birthmarks,” said Dr. Comi. “Now that we know the underlying genetic mutation responsible for both conditions, we’re hopeful that we can move quickly towards targeted therapies, offering families the promise of new treatments for the first time.”
Although much more research must be done, the study, published on May 8, 2013 in the New England Journal of Medicine, brings researchers closer than ever to a cure. “This is a giant step forward,” said Dr. Comi. “We have real hope in the next five to ten years, perhaps sooner, perhaps a little longer, that there will be…new treatments and perhaps even a cure for Sturge-Weber Syndrome.”
Notwithstanding the progress that has been made, because Sturge-Weber Syndrome is so rare (affecting only 1 in 20,000 individuals), funding for research has been difficult to obtain. For this reason, raising private funds to support ongoing research is critical.
With the hope that this event would help the doctors continue their vital work, I set out to run the coast. Now, I didn’t know what the journey would bring, 20 miles and a major injury or 2,000 miles and a successful run all the way to Key Largo, Florida. But I did know that as long as my body would allow, I’d continue to put in the miles each day for Jenna and all those suffering with Sturge-Weber Syndrome, so that a cure may one day be found.