A Family's Fight for a Cure for Duchenne Muscular Dystrophy (DMD)
It had been almost a full-year of medical appointments—six, to be exact—she had been called a "neurotic mother," had booked private sessions with a physical therapist (whose goals still remained unmet) and Dayna Scarso had finally gotten an answer. A pediatric neurologist diagnosed her 3-year-old son Pietro with Duchenne Muscular Dystrophy.
"At first, I wanted to strangle the doctor. How could you just diagnose my son like that?" explains Dayna. "You know immediately your dreams and hopes and visions are shattered on the spot."
Duchenne Muscular Dystrophy (DMD) is not only the most common, but also the most severe form of MD. DMD affects approximately one out of every 3,500 male births worldwide, (and, more rarely, can affect girls) who cannot produce dystrophin, a protein necessary for muscle strength and function. As a result, the skeletal muscles in the body gradually deteriorate over time. While two-thirds of DMD cases have a family story of the disease, Pietro is among the one-third who have no such history and are due to spontaneous mutations.
Dayna first recognized that something was just not right when Pietro was nearing 3 years old while on a play date. "The other kids were much faster. Pietro was very labored going up and down the steps. He wasn't able to stand from the middle of the floor. Instead, he'd have to crawl to a couch or a chair to pull himself up." Children with DMD are often late walkers who may seem clumsy and fall regularly. When they do, kids with DMD have a distinct way, referred to as the Gowers' maneuver, of going from sitting to standing by using their hands and arms to pull themselves up, which is due to the challenge presented by weakened leg muscles.
Children with Duchenne typically show symptoms between ages 3 and 5, and are usually wheelchair-bound by age 12. Until recently, those living with DMD faced a life expectancy of their late teens or early 20s. However today, due to advances in respiratory and cardiac care, DMD patients more and more are living into their early 30s with some living well into their 40s and 50s. Many go to college, have careers, marry, and have children.
After the initial shock of the diagnosis, Dayna started reaching out to a network of DMD nonprofits and organizations. She quickly felt a connection with mothers looking to keep their sons as strong as they can, for as long as they possibly can. Dayna wanted their regimens, their secrets. She wanted a cure.
"I started asking, 'Your son is 18 and he's not in a wheelchair. What do you give him?'" says Dayna. It didn't take long for her and her husband Manni to found their own nonprofit, Pietro's Fight.
"I would physically give my own arm or leg to make my son feel better. But I can't," says Dayna. "The only thing I can do is raise awareness and raise funds for research." To date, Pietro's Fight has raised almost $350,000 in fundraising, with every penny going towards research for a cure.
Today, Pietro takes a daily concoction of extra supplements and vitamins to promote heart and lung health. He receives steroids, a commonly prescribed medication for DMD patients, and also uses an at-home vector machine. Pietro calls this his "muscle machine," which helps blood flow to his weakening heart and muscles.
While there is no cure for DMD, researchers are currently looking into a multitude of approaches to halt or reverse muscle damage. From stem cell research to gene repair, there are several studies and tests that offer hope for children like Pietro. One experimental drug, eteplirsen, looks encouraging in its clinical trials and Pietro's Fight, along with a network of fellow organizations under the Duchenne Alliance, have worked tirelessly to fund its research for the chance that it may change the course of the future.
But it is in between the countless hours of pooling resources for a fundraiser, schlepping to doctor appointments from New York to Baltimore, or researching the latest scientific breakthroughs that the Scarso family truly finds their strength. "Time is what this disease holds from you. It requires you to prioritize being a mom, being a wife, being a sister—you're a victim of DMD," says Dayna. "But it's impossible in this day and age not to know how to fix it."
Visit PietrosFight.org for more information on the Scarsos and Duchenne Muscular Dystrophy.
If you're in the New York area, join Pietro's Fight March 20th at Fight Night Round II: Pietro vs. DMD for an adult seated dinner, dance and silent auction to benefit the fight for a cure. For tickets or sponsorship opportunities email Dayna@Pietrosfight.org.
Image and video courtesy of Pietro's Fight.