In late January the Utah Department of Health (UDOH) mandated newborns in Utah be tested for Spinal Muscular Atrophy (SMA).
SMA is a progressive neurodegenerative disease that affects the motor nerve cells in the spinal cord. It 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 about one in 11,000.
Kim Hart is the UDOH newborn screening director.
“Currently, every baby is screened.” she said. “That’s when they poke the baby’s heel and drop some blood onto a filter paper card. We now test for 41 disorders. We take a small punch out of that card, and a blood spot is tested.
“It’s a DNA test looking for a deletion. If that deletion on the gene is there, indicating that gene is not producing the protein necessary, that indicates an abnormal screen. In that case we call the pediatrician and also notify neurology. There would then be additional testing to confirm the diagnosis of SMA.”
The drug Spinraza, approved by the FDA in December, 2016, is one of the reasons UDOH decided to begin testing for SMA.
“It has improved the lives of these kids with SMA,” said Hart. “In clinical trials the drug actually helped these children walk. The trials were ended early and FDA approval followed.”
Hart told the story of Elliott and Janell Lewis, parents of two children with SMA.
“Their oldest daughter passed away from SMA. They were able to test their current daughter prenatally for SMA. Even before her birth they knew she had SMA. They were ready to treat her right away. She received treatment on day 12 of her life. She is doing really well right now. They said they will continue treatments as long as they need to.”
There is no cure for SMA.
“There are treatment options but it is not known how long they will prolong life. But at least these kids are able to meet some milestones with walking. Long term effects are still being studied.”