The Alabama Department of Public Health (ADPH) Bureau of Clinical Laboratories has begun testing newborn infants in the state for two additional diseases, enabling early detection and increasing the chances of successful treatment.
The newly added diseases are Pompe disease and Mucopolysaccharidosis Type I (MPS I), both of which are rare genetic disorders that may not be immediately apparent in newborns. These diseases tend to have greater severity and faster progression if not diagnosed early.
Healthcare providers will test for these conditions using the same blood sample that is already collected shortly after birth for other routine screenings. Early detection through these tests can alert healthcare providers to potential conditions, offering affected infants the chance to avoid severe disability or even death if treated promptly.
“That why newborn screening is so important because it is done early before their symptoms are allowed to progress. Because these diseases are very rare, they can take some time to progress, but by that the damage that's done is irreversible,” said Dr. Wes Stubblefield, Chief Medical Officer at ADPH.
The decision to include Pompe disease and MPS I in newborn screenings follows the passage of HB 77, also known as The Zachary Thomas Newborn Screening Act. Passed in April of this year, the bill mandates that Alabama must add any condition approved by the Recommended Uniform Screening Panel (RUSP) to the state’s list of mandatory newborn screenings within three years.
According to Alabama Rare, HB 77 is named after Zachary Thomas, a 14-year-old rare disease advocate born with MPS I. Zachary lives with the long-term effects of the disease due to the absence of newborn screening in the state at the time of his birth.
Dr. Stubblefield believes that expanding newborn screening will significantly benefit children and their families. He also emphasized that early diagnosis can help families connect with others facing similar challenges.
“For many of these diseases, that early identification allows for allows for early treatment, it allows for earlier visits to very specialized medical providers. It can also lead to connections within communities for other parents who have these across the United States over the internet. So there's so many benefits that happen when these children are diagnosed early,” said Dr. Stubblefield.
For more information on newborn screenings for Pompe disease and MPS I, visit the ADPH website.
