Newborn Screening for ALD

A reliable and sensitive test has been developed by the Kennedy Krieger Institute that can accurately screen for ALD using dried blood spots.  New York state was the first state to begin screening for ALD and during the first year of testing, New York identified 16 babies that tested positively for ALD.  These babies now have the opportunity to be monitored and receive life saving therapy when the first signs of brain abnormality appear on MRI.  In 2015, the Advisory Committee on Heritable Diseases and Newborns in Children under Health and Human Services (HHS) unanimously recommended that ALD be added to the Recommended Universal Screening Panel (RUSP).  The RUSP contains the diseases that HHS recommends that each state screen newborns for.  In February 2016, the Secretary of HHS, Sylvia Mathews Burwell, ​ approved the committee's recommendation and ALD was officially added to the RUSP.  ​

The Ethan Zakes Foundation and Newborn Screening in Washington State

Recognizing that Ethan’s death could have been avoided had his family simply known that he had the disease at the time of birth, the Ethan Zakes Foundation was formed to advance newborn screening for ALD.  The Ethan Zakes Foundation began working with the State Board of Health in 2013 to explore the possibility of adding ALD to the state’s newborn screening panel.  Through these efforts, the Board of Health convened an expert advisory panel to evaluate Adrenoleukodystrophy (ALD) for potential inclusion on the state’s panel of diseases that all infants are screened for at birth.  In October of 2015, the expert advisory panel voted unanimously in favor of adding ALD to the state’s newborn screening panel.  In January of 2016, this recommendation was presented to the full Board of Health.  In 2018, the Washington State Newborn Screening Laboratory began screening all newborn babies for ALD providing those with a positive diagnosis the opportunity to receive life-saving therapy.​