ALD Connect continues to support expanding ALD newborn screening. Every baby should be screened for ALD.
When babies are born, their heel is pricked and spots of blood are placed on a special paper that is sent to their state’s newborn screening lab. Each state has a different list of diseases for which they screen.
Nationally, the Recommended Universal Screening Panel (RUSP) contains the list of diseases for which the federal government recommends each state screen. The process for getting a disease added to the RUSP begins with the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) which reports to the U.S. Health Resources and Services Administration (HRSA), which is part of the United States Department of Health and Human Services (HHS). Once a disease is added to the RUSP, states are supposed to implement over time. However, the implementation can take more than 10 years.
In April 2012, following the death of their son, Aidan, who had cerebral ALD, but was diagnosed too late, the Seeger family drafted and supported the passage of Aidan’s Law in the State of New York. The bill was approved in February 2013 and became law in March 2013. On December 30 2013, New York State’s newborn screening laboratory began testing babies for ALD. The New York experience was instrumental in paving the way for ALD to be added to the RUSP, and on February 16th, 2016, almost 4 years from when the nomination was submitted, the Secretary of HHS, Sylvia Burwell, approved the addition of ALD to the RUSP. Since that time, with additional advocacy, screening was initiated in Pennsylvania, California, Connecticut and Minnesota. A few additional states are gearing up. However, most states are not close to implementation, and in the meantime precious lives will be lost. With each passing day without screening for ALD, children are unnecessarily put at significant risk of being condemned to an unnecessary and, in many cases, preventable death.
In the short time since screening was initiated over 100 children have been identified. As newborns are identified, potentially affected family members are screened and many more patients have been identified and are given a chance at a healthy life. In addition to identifying ALD, other peroxisomal storage disorders have been identified. Needless to say, families are incredibly grateful for the opportunity to save their children.
As other states move forward to introduce legislation or are working with their newborn screening laboratories to begin screening for ALD, ALD Connect is pleased to serve as a resource.
Figure 1: Map showing the states in the US that have initiated ALD newborn screening (green), states that will start in 2018/2019 (orange) and states that are mobilizing (blue). More NBS information can also be found at the Aidan Jack Seeger Foundation and the ALD database.