Alabama Introduces Screening for Two Rare Genetic Diseases in Newborns

Starting this week, the Alabama Department of Public Health (ADPH) will begin screening newborns for two additional rare and treatable genetic conditions: Pompe disease and mucopolysaccharidosis Type I (MPS I). This expansion aims to enhance early detection and intervention for these disorders.

Dr. Wes Stubblefield, a medical officer with ADPH, highlighted that with the inclusion of Pompe disease and MPS I, the Bureau of Clinical Laboratories now screens for 35 of the 38 primary conditions and all 26 secondary conditions listed on the federal Recommended Uniform Screening Panel (RUSP). The RUSP periodically updates its list to include new conditions.

These conditions often remain undetected in newborns due to their seemingly healthy appearance. "Identifying these diseases early is crucial," Dr. Stubblefield stated. "Even experienced practitioners may struggle to diagnose these disorders without early screening. Early detection allows for timely intervention, reducing long-term damage."

The ADPH Bureau of Clinical Laboratories, the sole provider of blood analysis for newborn screening in Alabama, collaborates with the University of Alabama at Birmingham (UAB) for diagnostic evaluation and confirmation. The bureau also provides healthcare providers with necessary information for appropriate treatment.

Approximately 50,000 to 60,000 children are born in Alabama each year. Pompe disease affects about one in every 40,000 newborns, translating to roughly one case per year in Alabama. MPS I affects about one in every 100,000 newborns, resulting in about one case every other year in the state. Annually, the ADPH identifies around 200 babies with various congenital disorders.

“These diagnoses, though rare, are life-changing,” Dr. Stubblefield emphasized. “For affected families, early diagnosis is infinitely important.”

The recent legislative push, the Zachary Thomas Newborn Screening Act, played a crucial role in this expansion. Named after Zachary Thomas, a teenager from Foley diagnosed with MPS I at age one, the act mandates that the ADPH adopt new screenings within three years of their addition to the RUSP. Zachary and his family, with the help of advocacy organization Alabama Rare and Rep. Phillip Rigsby, successfully lobbied for this bill.

Zachary’s siblings, Amelia and Luke, also have Hurler syndrome, a form of MPS I. Early treatment through enzyme infusions and stem cell transplants has been vital in managing their condition. This underscores the importance of early screening and intervention.

The ADPH plans to add screenings for GAMT deficiency and MPS II within the next few quarters, with investigations into adding Krabbe disease, the most recent addition to the RUSP, already underway.

“We aim to stay current with the recommended list and continuously roll out new screenings,” Dr. Stubblefield affirmed.