At 2.5 months old we took our newborn Emmett to the ER for the first time for what we thought was just a severe and persistent fever. We quickly learned our newborn son was in liver failure and were transported to the Pediatric Intensive Care Unit at Primary Children’s Hospital in Salt Lake City. We spent the next few months attempting to diagnose the problem. At 4.5 months old Em was diagnosed with an ultra rare and often fatal metabolic genetic disorder, Phosphomannomutase 2 Congenital Disorder of Glycosylation. PMM2-CDG for short. It affects every aspect of his body and development. Emmett spends most of his life in the hospital, averaging about 2 hospital stays a month, his longest stay being 10 months. He is completely dependent on us for his care, relying on a feeding tube and many other pieces of medical equipment, medications, and infusions to keep his small body functioning. While the medical aspects of his life are extremely demanding and difficult, mentally Emmett is a crazy awesome six year old! He LOVES to swim, wreak havoc on his little sister, could read books for days, loves the sunshine, has uncomparable dance moves and is as photogenic as they come. He loves to clap at parades, ride the carousel at the zoo, wave at passing cars and if he had his way his grandparents would live with him so he could see them everyday! His quality of life has always been our top priority and our goal has always been to never let his medical needs hold him back from experiencing life. Funds right now go towards travel to Mayo Clinic in Rochester, Minnesota where Em is seen by a world renowned geneticist for Glycosylation disorders and supporting our family through long hospital stays away from home. 

Medically things have been scary the last few months. We've been dealing with new problems in his body that have severe repercussions if not handled correctly and our time in the hospital has increased. We're relieved to find SupportNow and to use this support registry to update friends + family on Em and to better communicate the needs of our family. To say we are so grateful for the massive amount of support we feel from everyone in our lives is such an understatement. We love you all!