Glutaric Acidemia Type I [GA-I]

This story is shared by a family whose child has GA-I. Not a day goes by when I look out the kitchen window and watch Nikki jumping on the trampoline, swinging, or riding her bike, that I do not think of how lucky we are. Nikki was born in June 1997 following a perfectly uneventful pregnancy and labor. She nursed right away and seemed perfectly normal. When the midwife came to our house for the 24 hour visit, she asked if we wanted to have the expanded newborn screening test performed, and as we had with our first child, we agreed. [...]

This story is shared by a family whose child has GA-I. On December 16, 2001, I laid my 14-month old son Michael down for his afternoon nap and continued to prepare for his older brothers’ birthday party. When I tried to awaken Michael from his nap, he was unresponsive. Feeling scared, I contacted the hospital and paramedics. Paramedics arrived almost immediately and transported my son to Kaiser Hospital, Riverside. Once there, several ER staff started to work on my son. At one point a doctor asked my husband and I to leave the room while they intubated my son. We refused [...]

This is a personal story shared by a family whose child has GA-I. Joey's conception was deliberate, a Valentine's Day gift to each other. Joey's father and I really wanted a son. So, we were overjoyed to learn that our single attempt succeeded and by mid- March of 1998 we knew we were pregnant. In my prayer life, I sensed I would have a son, and that his name should be Josias. I looked in the bible and read the story of Josiah and found that the bible figure had been responsible for restoring true worship in the house of God. [...]

This is a personal story shared by a family whose child has GA-II. Pure joy arrived in the Richards' home on June 9, 2003, at 4:44 P.M. in the form of a bouncing bundle named Carsen Phillip Alan Richards, the newest member of the Richards clan. Because big brother Caden was diagnosed with GA-II, Carsen was screened at birth using MS/MS technology. The first newborn screening card indicated a problem. However, Carsen was showing no signs of GA-II and was doing very well except for an abundance of spitting up causing the need to switch him to a lactose-free formula. Carsen [...]

This is a personal story shared by a family whose child has GA-I. Our family has been very fortunate and I thank God every day. I have no idea where we would be today without Pediatrix (formerly known as NeoGen Screening) and their newborn screening test. When my stepmother was fighting her battle with leukemia, my husband and I decided to save our baby's cord blood for future use for her, or for my husband or children later down the road. We researched and decided to go with a cord blood registry. We were very thankful that the newborn screening test [...]