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All Utah Newborns Now Tested for Spinal Muscular Atrophy

As of January 29, 2018 every infant born in Utah will be screened for Spinal Muscular Atrophy (SMA). The Utah Department of Health (UDOH) Newborn Screening Program tests blood samples from approximately 52,000 newborns every year and identifies nearly 400 infants who suffer from more than 40 different disorders. Utah and Massachusetts are the first states to begin screening for SMA.

"These disorders are often times not detected and diagnosed until symptoms develop, which unfortunately could be too late to prevent disability or death," said Kim Hart, manager with the UDOH Newborn Screening Program. "The testing done by our staff is critical to the early detection and treatment of disorders that help ensure these babies lead fuller and healthier lives."

SMA is a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord which impedes the ability to sit up, walk, swallow, and in the most severe cases, breathe. It is the leading genetic cause of death for infants, affecting approximately one in 11,000 infants nationally.

"We applaud the Utah Department of Health for adding SMA to the newborn screening panel," said Russell Butterfield, MD, PhD, neurologist with the University of Utah. "We can now identify and treat patients with SMA in the first weeks of life, before symptoms emerge."

The U.S. Food and Drug Administration recently approved a promising new treatment for infants with SMA. Infants who are diagnosed before exhibiting symptoms, and who receive treatment have achieved unprecedented milestones such as sitting, standing, and walking.

Elliot Lewis and his wife are parents of two children with SMA; the youngest, Evie, nine months, is currently being treated. Tragically, their older child passed away due to SMA. "The effect this new treatment has had on Evie is profound and offers hope to so many families that have had very little hope for far too long. We feel that much of Evie's strength was maintained after birth because she was treated at such a young age, before the disease had time to strip it away from her. Newborn screening is the next breakthrough in treating this disease because it gives these kiddos and their families the opportunity to begin treatment before much is lost."

"The initiation of newborn screening for spinal muscular atrophy in Utah represents a significant public health advance. There is clear data that infants with SMA benefit when treated early. Children now have access to groundbreaking therapies that have the potential to improve their quality of life," said Dr. Nicholas Johnson, neurologist with the University of Utah.

The UDOH would like to extend its appreciation to the many partners who worked tirelessly to add SMA to the Utah newborn screening panel, especially the volunteers who serve on the Newborn Screening Advisory Committee.

For more information on the .

The mission of the Utah Department of Health is to protect the public's health through preventing avoidable illness, injury, disability and premature death, assuring access to affordable, quality health care, and promoting healthy lifestyles.

Utah Department of Health contact: Kim Hart 801-656-9315