SBU marks a Duchenne muscular dystrophy first

New hope: Javier Romero, namesake of East Setauket's Hope for Javier foundation, helped welcome the Duchenne Muscular Dystrophy Comprehensive Care Center at Stony Brook Children’s Hospital.

A grassroots foundation has helped Stony Brook Children’s Hospital open Greater New York’s first center dedicated to Duchenne muscular dystrophy.

Duchenne syndrome, or Duchenne muscular dystrophy, is a common and severe form of the muscle-weakening genetic disorder. More frequent in boys but a risk to both sexes, DMD has been diagnosed in nearly 1,000 boys in the New York Tri-State area, according to Stony Brook Medicine, and those families have traveled far and wide for top care, with no DMD-focused treatment center in New York, New Jersey or Connecticut.

Thanks primarily to a $600,000 commitment from Hope for Javier – an East Setauket-based 501(c)3 dedicated to changing “predicted outcomes” for children diagnosed with the progressive, fatal disease – they can now travel to Stony Brook.

Welcomed with an Oct. 5 ribbon-cutting, the Duchenne Muscular Dystrophy Comprehensive Care Center at Stony Brook Children’s Hospital is modeled on standards including precise diagnosis, rapid application of evidence-based knowledge, including new discoveries, and continual exploration of clinical trials that could benefit patients.

Most importantly, it will offer a coordinated multidisciplinary response to individual cases, reflecting new treatment protocols that are being credited with significantly extending patients’ lives.

The “comprehensive center” will unite pediatric specialists from many disciplines, according to Margaret McGovern, chairwoman of Stony Brook Medicine’s Department of Pediatrics and chief physician at Stony Brook Children’s Hospital, including neurology, cardiology, pulmonary medicine, orthopedics, genetics, nutrition and social work, among others.

Jennifer Portnoy, co-founder of Hope for Javier, said that kind of comprehensive treatment was previously impossible to find in Greater New York, which is why her family has been taking her 12-year-old son Javier out-of-state for his DMD treatments.

“Over the years, I’ve come in contact with a lot of boys in the New York area whose families are not as fortunate as mine and can’t afford to travel,” added Portnoy, who led Hope for Javier’s effort to raise funds for the new Duchenne Muscular Dystrophy Center.

With symptoms surfacing as early as age 2, Duchenne muscular dystrophy affects approximately 1 in 5,000 boys nationwide, though statistics vary. According to the Centers for Disease Control, Duchenne syndrome and Becker muscular dystrophy – another common form of the degenerative disease – affect a combined 1 in 7,250 males between the ages of 5 and 24 years.

The progressive muscle weakening generally robs patients of the ability to walk by age 12 and to use their upper arms in their teen years. It most commonly leads to heart and respiratory failure in the patient’s 20s, though survival into the early 30s is becoming more common.

That’s a credit to multidisciplinary care, which some studies say adds an average 10 years to a DMD patient’s life expectancy. And that’s precisely the model in place at Stony Brook’s new DMD center, according to McGovern.

“The difference this program will make in the lives of these patients and families cannot be emphasized enough,” the pediatric chair said. “Our commitment to high-quality, patient-centered care and to groundbreaking medical research will be advanced through our specialized, interdisciplinary clinical team, which is well equipped to meet the challenges of diagnosing, treating and managing neuromuscular diseases.”

Speaking at last week’s ribbon-cutting, Stony Brook University President Samuel Stanley trumpeted Hope for Javier’s “extremely generous commitment,” which has helped Stony Brook become “a destination for DMD care for residents of New York, New Jersey, Connecticut and beyond.”