Matthew begins Enzyme Replacement Therapy

Seven years ago we created MEFI in hopes of finding a cure for Sly Syndrome. Here we are present day with Dr. Sly himself and Dr. Kakkis, the doctor who created this enzyme replacement therapy. I am amazed at these men and their commitment to such a rare disorder. Even more, I am inspired by Tita Helen Evangelista and Tito Ding and Matthew for always having hope and a fighting spirit. Today was really a lesson in living life filled with hope and love. Good things really do happen!


Matthew recently received his first and second enzyme replacement therapies via Ultragenyx Clinical trials. It was in 1995 when we met Dr. Emil Kakkis, who developed this enzyme therapy and in 2013 he came back to us and was there with Dr. Sly (who found Matthew’s disease) and they helped to administer his first dose. What a momentous day for Matthew and MEFI!