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. […]
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