By the time parents notice anything out of the ordinary – their baby is “floppy” or isn’t able to roll – it’s too late to reverse the damage done by spinal muscular atrophy, or SMA.
“Once these infants start to lose function, demonstrate signs of weakness/disease, that loss is irreversible,” said Dr. Mary Schroth, the chief medical officer for Elk Grove Village-based Cure SMA. “That’s why it’s so critical to screen and treat before they develop symptoms.”
If left untreated, the genetic, progressive neuromuscular disorder is the number one cause of children dying before the age of 2.
Those with the most severe form are “never able to sit up and they also have respiratory muscle weakness. But they are cognitively normal, bright-eyed, intelligent children. But their muscles … they lose motor neuron function,” Schroth said.
If infants are treated before the disease is able to progress, the trajectory changes; children in clinical trials are surviving years longer.
While there is no cure for SMA, two types of treatments are available. The FDA is expected to make a decision on a third potential therapy by August.
That’s why a change Illinois is making starting Monday is so significant: The state will begin to screen all newborns for SMA.
Illinois mandates all newborns get screened for dozens of diseases and disorders, including cystic fibrosis, Gaucher disease and sickle cell disease.
Going forward, screening for SMA will also be included.
“This is huge. Huge,” Schroth said. “This is a milestone in the history of SMA as a disease; being able to screen infants before they have symptoms is night and day in what happens for the babies — for the children and for their families.”
Should a newborn’s screening show they do not have the Survival Motor Neuron 1 (SMN1) gene, doctors will immediately be notified and a referral will be made for further testing and evaluation by a specialist.
“A positive screen for SMA is an emergency because we have these treatments that make life-changing difference,” Schroth said. “It’s devastating news to be told that your child has this problem and they need to think very quickly about which of these treatments is most appropriate … without a lot of time to think about what to do.”
After diagnosis, it’s important that treatment begin as soon as possible — within two weeks, Schroth said.
Illinois’ new screening policy will catch the vast majority – 95% — of babies with SMA.
According to the Illinois Department of Public Health, “not all newborns identified with an abnormal newborn screening result will have disease.”
The disease is rare.
The latest IDPH statistics show 144,800 babies were born in Illinois in 2018.
Schorth said an estimated 13 babies born in Illinois each year will have SMA. Nationally, the figure is about 1 in every 11,000.
A state law passed in 2018 mandated that Illinois begin to test for SMA by July; the law passed shortly after the federal government added SMA to the Recommended Uniform Screening Panel (RUSP).
Schroth said it’s commendable that Illinois was able to meet its deadline even as the health department had to contend with battling COVID-19.
According to an IDPH press release, “Implementing SMA screening required IDPH to purchase new equipment, develop new test methods, obtain Clinical Lab Improvement Amendments test validation, and modify computer systems to provide laboratory results and facilitate follow up tracking.”
The state fee charged for newborn screening panels is $128.
Cure SMA has a goal for 70% of infants born in the U.S. to be screened for SMA as newborns by the end of the 2020 calendar year.
It’s getting close; Illinois will be the 25th state to permanently screen for the disease.
Cure SMA’s Leslie Humbel said California, which is responsible for 12% of U.S. births, is starting to screen for SMA, and Rhode Island will soon; North Dakota and Iowa are piloting screenings starting July 1.
SMA is hereditary, but as IDPH puts it, it is “inherited in an autosomal recessive pattern.”
That means parents are unaffected and healthy; each carries one gene that’s normal and another that’s abnormal.
“With each pregnancy, carrier parents have a 25 percent chance of having a child with two copies of the abnormal gene resulting in SMA. Carrier parents have a 50 percent chance of having a child who is an unaffected carrier and a 25 percent chance of having an unaffected, non-carrier child. These risks hold true for each pregnancy,” IDPH guidance reads.
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