ALD is diagnosed through a blood test, which analyzes the amount of very long chain fatty acids (VLCFAs). Individuals with ALD have elevated VLCFAs.
Your baby may have been diagnosed via newborn screening. Although newborn screening for ALD is available in some states, it is not a diagnostic test. Newborn screening can, however, lead to a proper and early diagnosis upon confirmatory testing. 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 then need additional blood tests to confirm ALD, including a DNA test.
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.
There is currently no way to predict the way that an individual’s symptoms will change over time. ABCD1 pathogenic variants have no predictive value with respect to the clinical outcome of an individual patient. Dr. Stephan Kemp, ALD Connect Board Member, manages the ALD Variant Database. His website, adrenoleukodystrophy.info provides excellent information about the ABCD1 gene.
Your care providers can help you to be prepared. It is important for patients who have ALD to establish care with a multidisciplinary team of providers for monitoring, including a neurologist, endocrinologist, and genetic counselor.
Baby boys identified on the newborn screen as having ALD should be started on a surveillance program with an endocrinologist to monitor adrenal gland function and the development of cerebral disease.
A family with a newborn with confirmed ALD (male or female) should also meet with a genetic counselor to discuss and identify other family members (male and female) who may be at risk for ALD and which should have blood testing.
