Spinal Muscular Atrophy added to Colorado’s newborn screening panel

Shannon Barbare, Communications Specialist | 303-692-2036 | shannon.barbare@state.co.us
For immediate release: Nov. 20, 2019
DENVER: The state Board of Health today added Spinal Muscular Atrophy (SMA) to Colorado’s newborn screening panel, the list of conditions for which babies are tested with a “heel stick” shortly after birth.
Spinal Muscular Atrophy is the most common genetic cause of death in children under age two. The disease targets the nerves that control muscles and can affect the ability to walk, eat, and breathe. Between three and nine Colorado babies are affected each year, but without screening at birth, they are not identified until they begin to show symptoms and have suffered irreversible damage.
For Coloradan Michelle Pritekel, the newborn test combined with current treatments could have helped her son Levi. Levi was diagnosed with Type 3 SMA at age 2, and by age 4 he was using a wheelchair. Fortunately, treatments approved in 2016 have made a remarkable difference for Levi, now age 8  -- he can walk short distances and is “doing fantastic,” according to his mom. In the years since her son was born, Pritekel has devoted herself to advocacy work and points out that 60% of SMA cases are Type 1, which is more serious. Newborns with Type 1 SMA often die within two years, but many die within months, before being diagnosed. A test that identifies the condition and allows treatment to start within days is critical. Other advocates agree.
“Colorado is at the forefront of an effort to save the lives of babies born with SMA,” said Kenneth Hobby, president of the national patient advocacy group Cure SMA. “With 1 in every 50 Americans a genetic carrier of the disease, adding it to the newborn screening panel creates an opportunity to change the course of the disease. We congratulate Colorado advocates for their success with this effort and commend the state Board of Health on its action.”
SMA is the 38th rare genetic or metabolic condition Colorado tests for through the Newborn Screening Program at the state laboratory. Colorado regularly reviews national screening recommendations and considers new conditions based on state needs and capacities. The state lab proactively secured funding to cover the cost of this test and will add it to the screening panel on Jan. 1, 2020.
“Adding this condition to the newborn screening panel makes perfect sense,” said Dr. Daniel Shodell, Acting Chief Medical Officer at the Colorado Department of Public Health and Environment. “There are few false positives with the test, but there are effective treatments that, if started early enough, prevent or minimize the devastating consequences of this disorder and save families health care costs down the road.”
For more about Colorado’s Newborn Screening Program, visit our web site.