Matthew Evangelista was diagnosed with Sly Syndrome in 2002 and was transferred to St. Mary’s Hospital for Children soon after being diagnosed, so he could receive intensive care and monitoring he needed day-to-day that he was unable to receive at home.
While there was no cure at the time, the discovery of his diagnosis inspired his mother, Helen, to become an advocate for her son—and all children living with Sly Syndrome. Sly Syndrome is a genetic condition that affects less than 100 people in the U.S and 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.
In the summer of 2013, Matthew’s condition took a turn for the worse. He was unable to breathe without the help of a respirator, and the carbon dioxide in his blood hit alarming levels. Matthew’s condition immediately improved after an experimental enzyme treatment regimen began. Within days after receiving the first infusion, Matthew saw significant improvements and his condition stabilized within a month. He is now more alert, energetic and is able to move his hands and head. It saved his life. “Never lose hope and do the best you can for your child no matter what…because you don’t know what tomorrow brings” said Helen, Matthew’s Mother.