DENVER (CBS4) – The state Board of Health 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. The changes take effect on Jan. 1 and parents with toddlers already diagnosed and suffering from the genetic disease tell CBS4 this move is a “game changer.”
SMA 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.
CBS4 has followed Maisie and her family’s story for months, after the little girl was diagnosed with the most destructive type 1 SMA before she turned two years old.
Maisie’s mother Cigi Green has used their story to help advocate for SMA testing — and to help other families overturn insurance companies denying coverage for new drugs that help halt the progression of the disease.
“If we had known and had the testing when she was born, she would be walking now, we are up against the clock and time is everything,” Green told CBS4 Thursday. “This will mean other parents will have more time to get their babies the drugs to stop the damage before it can progress like it did in Maisie.”
Fellow Colordoan Michelle Pritekel, says the newborn test combined with current treatments could have helped her son Levi, too.
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.
Sixty percent 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,” Kenneth Hobby, president of the national patient advocacy group Cure SMA, said in a statement. “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, according to state health officials.
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.