MONTGOMERY, Ala. — A new law could get critical diagnosis and information about genetic conditions to Alabama infants sooner, says an Alabama Department of Public Health representative.
The Zachary Thomas Newborn Screening Act, which was signed into law on May 9, adds an accountability component for ADPH when new conditions and diseases are recommended for newborn screenings, said ADPH Medical Officer Dr. Wes Stubblefield.
“For some of these conditions, early treatment and diagnosis can be critical in either life-saving therapy or life-improving therapy,” Stubblefield said.
According to House Bill 77, “babies born in Alabama are currently screened for some, but not all, conditions included on the United States Department of Human Services’ Recommended Uniform Screening Panel. New conditions are added to the RUSP on a regular basis, and the Department of Public Health is firmly committed to adding RUSP conditions to the state’s newborn screening panel.”
The law says ADPH must start screening for diseases added to the RUSP within 36 months of their addition.
“If that timeline is not met, then the health department has to report to the Legislature as to why the timeline has not been met,” Stubblefield told Alabama Daily News. “And the reason that’s important is because our laboratory right now has been overworked and understaffed over the past few years, as a lot of places have.”
While this accountability component will not go into effect until Oct. 1, Stubblefield told ADN that there will be two new diseases added to the screening starting in August with two more to follow.
“They’re extremely rare, but they can be potentially lethal or have lifelong complications for infants,” he said.
The Zachary Thomas Newborn Screening Act, HB 77, is signed and now law. Thank you to all who made this happen.
Tagged: @AlabamaRare and @GovernorKayIvey pic.twitter.com/prL7e6ctgU— Alabama Public Health (@ALPublicHealth) May 10, 2024
In August, Mucopolysaccharidosis (MSP) Type I and Pompe Disease will be added to the mandated screening. Zachary Thomas, whom the bill was named after, has MSP Type I, said Stubblefield. Stubblefield said MSP Type II and Gant Disease will be the next two added to the mandated screening. Stubblefield said adding these diseases and conditions to the screening will allow for infants to be treated faster than if they were screened for the diseases later in life.
Sponsor of the bill, Rep. Phillip Rigsby, R-Huntsville, echoed Stubblefield on the importance of diagnosing children sooner rather than later.
“If we can just help one person, it’d be worth it because getting that early treatment is key,” Rigsby told ADN. “And we can extend life expectancy from a few years to 10, 20, 30, 40 years if we catch it early enough and we can get the treatment early enough.”