Zachary Thomas Newborn Screening Act Could Introduce MPS I to Alabama’s Newborn Screening Panel

Zachary Thomas has been an advocate for the mucopolysaccharidosis type I (MPS I) community since he was born. 

Newborn screening is a public health initiative that tests newborn babies for certain genetic, developmental, or metabolic disorders. The goal of this program is to identify infants who might have these conditions early-on, often before symptoms appear, so that appropriate treatments and interventions can be given. 

However, newborn screening panels are not standardized; they vary in states across the country. For example, the federal Recommended Uniform Screening Panel (RUSP) has 37 primary conditions and 26 secondary conditions. Alabama only tests for 33 primary conditions and 26 secondary conditions.

Because Alabama does not test for MPS I, Thomas’ diagnosis was not caught at birth. 

Now, shares Grayson Everett in Yellowhammer News, Thomas and his family are working to change the rare disease landscape through the Zachary Thomas Newborn Screening Act. Developed between the Alabama Department of Public Health and Alabama Rare, the Zachary Thomas Newborn Screening Act could help families get answers – and pursue treatment – more rapidly. 

The Zachary Thomas Newborn Screening Act: Adding MPS I to the RUSP

Everett reports that State Rep. Phillip Rigsby (R-AL-025) introduced the bill—HB 77—during the 2024 Legislative Session. The bill would expand newborn screening by adding four conditions to Alabama’s newborn screening panel:

Without treatment, children with MPS I often pass away in early childhood. Available treatment, such as bone marrow transplants, can be effective – but also come along with a 30% mortality rate. Enzyme replacement therapy (ERT) can relieve symptoms and slow disease progression, but often does not help with neurological manifestations. Early identification and treatment can significantly improve outcomes. As Brooke Thomas, the Chief Programs Officer of Alabama Rare and a mother of three children with Hurler syndrome, explains, she understands how urgent this pathway forward is. The health complications that can arise from a lack of diagnosis, or a misdiagnosis and subsequent mistreatment, can worsen with age. Unfortunately, people with rare diseases also face years of searching for an accurate diagnosis, which can complicate their health even further. 

The other three conditions also require more education, awareness, and research than is currently available. By adding these four conditions to Alabama’s newborn screening panel, the state not only becomes in parity with the federal RUSP but offers the opportunity for families to best support and provide for their children.

Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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