Alabama Begins Screening Newborns for Two Rare, Treatable Genetic Diseases

The Alabama Department of Public Health (ADPH) announced Monday that newborns in Alabama will now be screened for two additional rare, treatable genetic disorders that were previously not part of the state's testing program.

The ADPH Bureau of Clinical Laboratories will now include Pompe disease and mucopolysaccharidosis Type I (MPS I) in their screenings for infants. Both conditions can go undetected without newborn screenings, as affected babies often appear healthy at birth.

Dr. Wes Stubblefield, a medical officer for the ADPH, explained 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 adds new diseases to its list.

Stubblefield noted that the conditions on the RUSP vary widely in their impact on children. Many involve defective enzymes or deficient enzyme levels, leading to a buildup of toxic substances. "Those substances end up causing long-term damage to the body that’s irreversible,” he said. “If you can interrupt that process early, then there’s less long-term damage to the body. It depends on the condition, but that’s kind of the general way to think about it.”

He emphasized that these screenings help identify diseases that are otherwise extremely difficult to diagnose. "Even very experienced practitioners, pediatricians, family practitioners that see children every day, these disorders can be very, very hard to diagnose,” Stubblefield said. “And many times, by the time they get to a diagnosis, there’s been a lot of damage that’s been done. So, identifying these children early is really important, both for the children, but also for the families and for future children.”

The ADPH Bureau of Clinical Laboratories is the sole provider of blood analysis for newborn screening in Alabama. The bureau collaborates with the University of Alabama at Birmingham (UAB) to evaluate and confirm diagnoses and provides healthcare providers with information for appropriate treatment.

Each year, about 50,000 to 60,000 children are born in Alabama. Pompe disease affects approximately one in every 40,000 newborns, meaning there is likely one case per year in Alabama. MPS I affects about one in every 100,000 newborns, equating to one case every other year in the state.

Annually, the ADPH identifies about 200 babies with metabolic, endocrine, hematological, or other congenital disorders. “So these are very rare,” Stubblefield said. “But they are life-altering, life-changing diagnoses. And there are people in this state who have these diseases on these lists. And for them, it’s infinitely important. And for future children, as well.”

In April, the Alabama Legislature passed the Zachary Thomas Newborn Screening Act, named after a teenager from Foley who advocated for aligning the state’s newborn screening program with the RUSP. Zachary and his mother, Brooke Thomas, worked with the advocacy organization Alabama Rare to promote the bill, which was sponsored by Rep. Phillip Rigsby, R-Huntsville, a pharmacist.

Zachary was diagnosed at age 1 with MPS I, also known as Hurler syndrome. Children with this condition do not produce an enzyme needed to break down certain complex sugars, leading to an accumulation that causes widespread damage and developmental problems.