Glutaric aciduria type 1 (GA1) 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 […]
Katie
Unclassified Fatty Acid Oxidation Disorder (U-FAOD) In Loving Memory of Kathleen Celeste Boiros October 24, 2002 – July 11, 2003. Lost to an Unclassified Fatty Acid Oxidation Disorder (U-FAOD). Kathleen Celeste Boiros was born on October 24th, 2002. She was born on her Auntie Eileen’s birthday and she was named after her great-aunt & mommy’s […]
Carsen
Glutaric Acidemia Type II (GA2) 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 […]
Margaret
Phenylketonuria (PKU) This is a personal story shared by a family affected by PKU. (Editor’s note: Margaret is the niece of Robert Guthrie, the Father of Newborn Screening, who is mentioned in this story.) Margaret was 13 months old when diagnosed with PKU. The earlier form of screening for PKU called the “diaper test” was […]
Michael
Glutaric Aciduria, Type 1 (GA-1) 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 […]
