Congenital Heart Defect (CHD) This story is shared by a family whose son was born with CHD. My son, Alec, was born 03-07-09 in Michigan. He was born at 38 weeks following a normal pregnancy. All 3 ultrasounds done during the pregnancy appeared normal. When Alec was born he was cyanotic (blue baby; he scored […]
Alena and Mia Rose
Galactosemia (GALT) This story is shared by a family whose daughters have GALT. Please meet Alena and Mia Rose, our happy and healthy children. They both have a metabolic disorder – classical galactosemia, which is detected through Newborn Screening. Here are their stories. Our oldest daughter, Alena, was born in November 2002 in Portland, Oregon. […]
Isabella
3-methylcrotonyl-CoA carboxylase deficiency (3-MCC) This is a story shared by a family whose daughter has 3MCC. Our dreams came true when my husband Pete and I found out we were going to have our second child. We had a fantastic pregnancy and learned we were having a healthy baby girl. We chose the name Isabella […]
Piper
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) This story is shared by the family of a child who has MCADD. Newborn Screening saved Piper’s life. It was my second pregnancy and, like my first, it was typical. Her birth was typical. Our hospital stay was typical. Like all other newborns in the state of Arizona, the nurse […]
Nikki
Glutaric Aciduria, Type 1 (GA-1) 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 […]
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