New hospital on Long Island will treat rare form of muscular dystrophy

Kristin Thorne Image
Wednesday, October 5, 2016
New hospital for kids with muscular dystrophy
Kristin Thorne has the story of a new treatment center on Long Island for children with muscular dystrophy.

EAST SETAUKET, Long Island (WABC) -- A remarkable new hospital center on Long Island was funded by a family so that kids like their 12 year old son will have a place to treat one of the most common and devastating genetic childhood diseases.

Duchenne Muscular Dystrophy affects 1 in every 5,000 boys nationwide. The nearest center to the New York area had been Baltimore or Boston, until now.

Javier Romero's parents had no idea how important the moments would be when they watched their son run around.

Now 12, Javier is wheelchair bound.

He suffers from a rare disease called Duchenne Muscular Dystrophy.

Patients - who are mostly boys - lose use of their limbs and don't typically live past their 20's.

"We've been taking him out of state to care since he was diagnosed," said Javier's mother Jennifer Portnoy. "But over the years I've come in contact with a lot of boys in the New York tri-state area and their families who aren't as fortunate as mine and can't afford to travel."

Jennifer says that's unacceptable.

So through the Hope for Javier Foundation she raised more than $600,000 to open a Duchenne Muscular Dystrophy center at Stony Brook Children's Hospital.

"I'm very happy I'm going to get treated better and it's very close to my house," said Javier.

For boys like Javier, they usually have to go to tons of doctors appointments. But at this center it's a simple as going from the cardiologist right over to the pulminologist.

Research has shown that this multi-disciplinary approach can increase life span by up to 10 years.

Patients will receive concierge level service with access to up to 16 doctors all here at the same time to address their case.

"No one doctor can know everything and this disease can affect so many different parts of the body," said Dr. Susan Manganaro of Stony Brook Children's Hospital. "It can affect so many different parts of the body the lungs, to the heart to the bones they can have frequent fractures."

Javier's family says one day the hope their connection to Stony Brook will grow even deeper.

Javier wants to attend college here.