John Paul

John Paul was born naturally and without any problems or complications.  When John Paul was a month and a half old, we noticed things were not going well; we went to a neurologist who confirmed that JP had a neurological disorder and epilepsy.  His seizures were not responding to drug therapy and it seemed that there was no understanding as to why he was having these seizures.  JP was subjected to various studies, some very invasive, and a diagnosis was not made.  With each passing day JP seemingly had more psycho-motor retardation. When JP turned 5 years old, we decided to pursue further neurological advice.  My wife and I took JP to FLENI (which is a high-tech neurological hospital in Argentina).  It was a FLENI where we were introduced to a group of researchers.  Among the many diseases that were being studied was Glut1 DS.  Within a week, an accurate diagnosis was made.  Here in Argentina, JP is the only case we have found of Glut1 DS.  The only treatment option we were offered was the ketogenic diet.  We met Dr. De Vivo in Argentina at a medical conference and he told us that there was no cure for the disease.  We implemented the ketogenic diet when JP was 6 years old which has controlled his seizures without epilepsy drugs.  Our family is committed to finding a treatment or a cure for JP.  We are thankful for sharing support and hope with the Remi Savioz Glut1 Foundation.