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 […]
Nora
Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHAD) This story is shared by a family who lost a child to LCHADD. Our four-month-old daughter died suddenly and unexpectedly. This did NOT have to happen. A simple newborn screening test, which most parents are not aware of, would have saved her life. Please take the time to read our […]
Josias (Joey)
Glutaric aciduria type 1 (GA1) 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 […]
ALEX
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) This story is shared by a family whose child has MCADD. Alex’s Happy Story When I tell people in the metabolic disorder community Alex’s happy story, I get a reaction synonymous to that of, “I just had a baby a week ago. I have 5 nannies and a personal trainer. […]
