You or a loved one may know you have ALD, but be “asymptomatic”. This means the individual has had a genetic test showing a mutation in the ABCD1 gene, but does not have any symptoms.
Your baby may have been diagnosed via newborn screening. Just after birth, a few drops of blood are taken from a baby’s heel and placed on a card that is sent to the state’s newborn screening lab. The results are then sent to the baby’s pediatrician and the hospital where they were born. Babies need then need additional blood tests to confirm ALD, including a DNA test.