Conn. senator urges wider newborn disease screening

Sen. Richard Blumenthal (D-Conn.) is urging the Department of Health and Human Services (HHS) to recommend an additional disease screening for newborns.

Babies should be screened at birth for adrenoleukodystrophy, or ALD, to help avoid a protracted and confusing diagnostic process later in life, Blumenthal wrote in a letter to the department.

{mosads}”ALD is a genetic disease that destroys myelin, the protective sheath that surrounds the brain’s neurons, which are the nerve cells that allow us to think and to control our muscles,” he wrote Wednesday.

“ALD affects 1 in 17,000 people and most severely affects boys and men. Screenings would allow for affected babies to receive immediate treatment, before symptoms develop, and have the best chance at a healthy life.”

Childhood-onset ALD typically occurs between the ages of 4 and 10, and can lead to death within 10 years if not treated, according to the Mayo Clinic. Symptoms include muscle spasms, seizures and impaired hearing and vision; Blumenthal noted that behavioral symptoms such as withdrawal often come first.

The letter follows passage of a Connecticut law in 2013 requiring ALD screenings for newborns. “Efforts to implement this requirement in other states has been hindered by the lack of a federal mandate for an ALD screening,” Blumenthal wrote.

HHS could endorse newborn screenings for ALD by ordering them as part of the Recommended Uniform Screening Panel managed by the Health Resources and Services Administration.