Bizzarro legislation would add ALD to Pa. newborn screening list

HARRISBURG, Sept. 29 – State Rep. Ryan A. Bizzarro, D-Erie, today announced he recently introduced legislation that would increase the number of genetic diseases hospitals must screen newborns for in Pennsylvania.

Bizzarro’s H.B. 2012 would add adrenoleukodystrophy (ALD), a lysosomal storage disorder, to the list.

"Just last session, the previous governor signed into law a measure adding Krabbe and five other Lysosomal Storage Disorders to the list of diseases newborns are screened for," Bizzarro said. "Unfortunately, ALD didn’t make the cut. The good news is that ALD can be detected through the same heel pinprick newborns are already subject to under the Newborn Child Testing Act, so there’s no reason we can’t also screen for this potentially devastating disease."

ALD is an inherited metabolic disorder that affects the nervous system and can be fatal if not treated before symptoms arise. Affected patients possess a mutated gene that allows for fatty acids to build up in plasma and tissues throughout the body, which can cause issues with the adrenal gland and brain damage that may not be apparent until adulthood.

Bizzarro added about one in 17,000 boys is affected by ALD, while females are only carriers of the disease. The disorder can be effectively treated with a bone marrow transplant only when children are diagnosed and treated before they show symptoms. Without treatment, patients lose voluntary muscle function, vision, and hearing, before eventually succumbing to the disease.

"Two years ago, New York passed a law screening for ALD in newborns, and since then more than 30 babies have tested positive for the disorder," Bizzarro said. "These babies have a second chance at life since ALD was detected early on. I want to make sure babies in our own state have that same opportunity."