Five years ago, Matthew Evangelista’s mother was convinced that he was on the brink of death.
The then-11-year-old Queens boy had been diagnosed with an exceedingly rare degenerative disease called mucopolysaccharidosis type VII, also known as Sly syndrome, when he was a toddler.
A genetic condition that affects only 100 people in the U.S., Sly syndrome can cause skeletal abnormalities, mental disabilities and reduced function of the heart, lungs, liver and spleen.
Many patients with Sly syndrome die at birth or soon after, but others have lived into early adulthood.
Matthew’s condition turned sharply worse in the summer of 2013. He couldn’t breathe without the help of a respirator, and the carbon dioxide in his blood hit frightening levels.
He seemed destined to die at St. Mary’s Hospital for Children in Bayside, where he has been living since he was 2.
“I thought I lost him already,” said his mother, Helen Evangelista, 57.
For Evangelista, that frightening period now seems like an eternity ago.
Her son has made a remarkable recovery thanks to an experimental enzyme treatment known as Mepsevii.
Matthew, who was the first patient in the U.S. to receive the novel treatment, is more alert and energetic and able to move his hands and head.
He’s also a medical pioneer of sorts.
The Food and Drug Administration approved the drug for general use last November in part, his doctors say, because of its effect on the ever-smiling boy affectionately known as “the mayor.”
“This treatment is like a miracle to him,” said Helen Evangelista, who works as a registrar at a Brooklyn hospital.
Dr. Linda Volpe, director of medical education and research at St. Mary’s, said she was thrilled by Matthew’s response to the treatment.
“He was always a happy kid, but you couldn’t see it because he was always sleeping,” Volpe said. “And now you can see he’s actually participating in life.”
Matthew’s mother played a crucial role in his medical turnaround.
Desperate to get help for her son, Evangelista attended every medical conference she could, soaking up information about the disease and potential treatments.
It was at one of those conferences that she met Dr. Emil Kakkis, CEO of Ultragenyx, the company that produces Mepsevii.
The enzyme replacement therapy was still a long way from getting a green light from the FDA, but Evangelista saw it as her son’s best hope.
“For me, as a mother, it takes whatever; I’ll do whatever,” Evangelista said. “It’s better for me to try than not try and see my son dying.”
Hospital officials were fully onboard with the push to get Matthew approved for the treatment.
“We went to the (FDA) and everyone agreed that this child deserved a chance at life,” Volpe said. “It was a huge effort to get this done.”
The FDA ultimately authorized the emergency use of Mepsevii for Matthew.
The brave teen received the first infusion of the drug, which is administered through an IV every other week, in October 2013.
“The day before, his liver and spleen were down to his groin,” Volpe said. “All of the carbohydrates were being deposited there.”
Within three days, Matthew saw significant improvements, with his organs returning to their normal size. His condition stabilized within a month.
The doctors, along with Matthew’s mother, were stunned by the results.
“The important thing is, it saved his life,” Volpe said.
On a recent afternoon, Evangelista wheeled Matthew into St. Mary’s lobby. The mother of two other sons, Francis, 26, and Paolo, 24, used her phone to video-call Francis.
Matthew cannot speak, but he responded immediately to the sight of his big brother — his eyes lighting up and his face breaking into a wide smile.
“This is really working for him,” said Evangelista, who had a message for parents of children with the same condition.
“Never lose hope and do the best you can for your child no matter what,” she said. “Because you don’t know what tomorrow brings.”
