A bill introduced by State Representative Philip Rigsby aims to help Alabama doctors detect and treat rare diseases in newborns soon after birth.

Named after Zachary Thomas, a boy born with a rare disease that was not detected early enough to be immediately treated, the Zachary Thomas Newborn Screening Method provides early intervention for families affected by rare diseases. This will strengthen Alabama's ability to

Developed from a multi-year partnership between alabama rare and the Alabama Department of Public Health. newborn screening programthe bill is backed by data that has lawmakers gearing up to reverse course.

According to research from the EveryLife Foundation, lack of newborn screening can lead to an average wait of 6.3 years for rare disease diagnosis and result in at least $220,000 in avoidable costs.

An estimated 1 in 10 people in Alabama have a rare disease, and lack of proper diagnosis is common. Half of the people living with rare diseases in the United States are children, and one in three of them will not live past their fifth birthday.

Rep. Philip Rigsby (R-Huntsville) said he was honored to pass this bill.

“We are proud to sponsor HB 77, the Zachary Thomas Newborn Screening Act, during the 2024 legislative session. This will help in the early detection and provision of treatment,” Rigsby said.

“This is a great collaboration between the Alabama Department of Public Health and Alabama Rare to foster better testing environments for people affected by rare genetic diseases. I look forward to working to get this bill passed and signed into law. ”

If time passes without an accurate diagnosis, the disease can become significantly more severe. The damage is often irreversible and means a decline in physical function and quality of life. For Brooke Thomas, Alabama Rare's chief program officer and parent of three of his children with MPS Type I, improving early diagnosis in the state is a personal mission.

“Without treatment, children with MPS type I usually stop growing between the ages of 2 and 3 and die quickly. The mortality rate with transplantation is 30%, but ultimately It increases life expectancy to about 30 years,” says Thomas.

Grayson Everett is the state and politics editor for Yellowhammer News. You can follow him on Twitter @Grayson270