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

The ADPH Bureau of Clinical Laboratories will screen infants for Pompe disease and muccopolysaccharidosis Type I, or MPS I.

Both are examples of rare conditions that can go undetected without the newborn screenings because the babies appear healthy.

Dr. Wes Stubblefield, a medical officer for the ADPH, said that with the addition of Pompe disease and MPS I, the Bureau of Clinical Laboratories is now screening for 35 of the 38 primary conditions and all 26 of the secondary conditions on the federal Recommended Uniform Screening Panel (RUSP), which adds diseases periodically.

Stubblefield said the diseases on the RUSP vary widely in how they affect children, but that generally many of them involve defective enzymes or deficient enzyme levels that cause a buildup of toxic substances.

“Those substances end up causing long-term damage to the body that’s irreversible,” Stubblefield 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.”

Stubblefield said the screenings identify diseases that are otherwise extremely had to diagnose.

“Even very experienced practitioners, pediatricians, family practitioners that see children every day, these disorders can be very, very hard to diagnose,” he 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 of newborn screening in Alabama. The bureau works with UAB to evaluate and confirm diagnoses. ADPH provides information to healthcare providers for appropriate treatment.

About 50,000 to 60,000 children are born in Alabama every year. Pompe disease affects about one of every 40,000 newborns, which means probably one a year in Alabama, and MPS I affects about one of every 100,000, which means about one every other year in Alabama.

ADPH identifies about 200 babies each year with a 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 came to the State House to lobby for a bill to align the state’s newborn screening program with the RUSP. Zachary and his mother, Brooke Thomas, worked with the advocacy organization Alabama Rare to promote passage of 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 the condition do not produce an enzyme needed to break down certain complex sugars. Those sugars accumulate in the body, causing a wide range of damage and developmental problems.

Zachary’s younger siblings, Amelia and Luke, also have Hurler syndrome. Enzyme infusions and stem cell transplants can slow the progression and damage. Like many other diseases on the RUSP, starting those treatments early is vital.

The bill requires the ADPH to adopt newborn screenings for conditions within three years of when they are added to the federal RUSP. Stubblefield said adding the screenings is a complex process but that three years is a reasonable timeline.

He said he expects the Bureau of Clinical Laboratories to add two more screenings, for GAMT deficiency and for MPS II, within the next couple of quarters. He said ADPH is in the early stages of investigating the addition of Krabbe disease, the most recent addition to the RUSP.

“Our plan is to continue to keep these rolling out and try to stay with that recommended list,” Stubblefield said.