Grant's Story

Grant William Breitbarth was born on February 18, 2021. He weighed 8lbs 10oz and was 22in long! He was a healthy baby boy. On March 1, 2021 when Grant was just 11 days old we received a phone call that would forever change our life, Grant's newborn screen had an abnormal result for Pompe disease. The woman on the phone didn't have a lot of information for us. She told us that there were two types of Pompe disease and his blood spot had been sent on for further testing. We had 3 very long days before we would meet with doctors and Google led us down a very dark road. We didn't know then how out of date Google was when it came to accurate information about Pompe disease. On March 4, 2021 we had our first appointments for Grant at Riley Hospital. We learned that Grant did in fact have Pompe disease and he had Infantile Onset Pompe disease, the most severe form of the disease. His team at Riley informed us that he would be starting treatment as quickly as possible and that we should be thankful that he was diagnosed on newborn screening. On the day he was diagnosed we were absolutely devastated. When we looked at Grant we had a hard time wrapping our heads around the fact that there was something wrong with him. We quickly learned that his newborn screening diagnosis and early access to treatment would be life saving. Indiana added Pompe disease to the newborn screening panel in July of 2020, Grant was born in February of 2021. He was the first baby in Indiana to be diagnosed from newborn screening with Infantile Pompe disease. He was born in the right state at the right time. Not all states screen for this rare but treatable disease. The treatment for Pompe disease is Enzyme Replacement Therapy (ERT). Grant began weekly ERT infusions at just 3.5 weeks old. His amazing team at Riley made sure he began treatment as quickly as possible. Grant has been receiving weekly infusions since he began them on March 15, 2021 and to date has had over 100 infusions. He spends one day each week at the hospital for his infusion and each infusion takes about 5 hours. Grant will continue to receive weekly ERT infusions for life or until a better treatment comes along. Today, Grant is a thriving toddler who has met all milestones early or on time. He loves to play with his older brother, Connor, throw balls, play with tractors, spend time outside, and climb all the things! We are so thankful that Pompe disease has a treatment but we are hopeful for a cure someday.