Newborns To Get Tests For Treatable Genetic Disease Under New Law

SPRINGFIELD, IL — Health officials must test Illinois newborns for spinal muscular atrophy under a bill introducedby state Sen. Julie Morrison (D-Deerfield) and signed into law Tuesday. The amended Newborn Metabolic Screening Act mandates that the Illinois Department of Public Health start checking infants for the disease by 2020 during the state's newborn screening test.

Worldwide, spinal muscular atrophy is the most common genetic disorder linked to infant death. It is a terminal and degenerative disease leading to severe symptoms, and over time it stops babies from standing, swallowing and eventually even breathing, according to a release announcing the bill.

SMA affects between 1 in 6,000 and 1 in 10,000 infants born in the U.S. and most of those with the disorder do not survive longer than 18 months.

The first treatment for SMA was approved by the Food and Drug Administration in December 2016. Called Spinraza, or nusinersen, it is only effective it is is provided before symptoms begin to show.

Morrison, the chair of the Illinois Senate's human services committee and chief sponsor of the bill, said that makes early genetic testing especially important.

“Medical advancements have made all the difference in treating this horrific disease that affects our youngest children,” said Morrison, who said she was proud of Illinois for taking a lead on testing for the painful and now-treatable disease. “Including testing for SMA in regular newborn screenings will ensure treatment can begin immediately to prevent the disease from progressing and causing lifetime harm or even death."

According to the state public health department, newborn screening diagnoses more than 700 babies every year with one of over 40 disorders within a couple days of their birth, allowing for early treatment and intervention.

The new bill – Senate Bill 456 – unanimously passed both chambers of the General Assembly and takes effect immediately.