A bill has been introduced in the state Legislature to require screening for spinal muscular atrophy, helped in part by a local family whose child has the neuromuscular condition.
State Rep. Rob Nosse said a group of advocates reached out to him after the Oregon Health Authority decided not to join 33 other states that test newborns for spinal muscular atrophy.
The degenerative spinal condition, a form of muscular dystrophy, is the most common genetic cause of death in infants and impacts as many as 25,000 Americans.
Nosse doesn’t know why the health authority didn’t already include the screening. “It could just be a weird COVID thing where a bunch of stuff kind of got lost in the shuffle,” the Portland Democrat said. “Or it could be that, frankly, they thought, ‘Well, we just can’t afford this.’”
Over the past several years, several treatments have become available for the condition. The Food and Drug Administration in 2019 approved Zolgensma, a one-time intravenous gene therapy targeting the root of the disease. But the medication needs to be administered before children turn 2 years old.
“Like any disease, it’s pretty crappy to get,” Nosse said. “But if you can test for it soon, you can mitigate it and prolong the person’s life, and not have that child’s life be as difficult as it might otherwise be.”
Alina Citovic, an 8-year-old from Astoria, was diagnosed with a milder form of the condition allowing her to still walk. She became the first patient at Doernbecher Children’s Hospital at Oregon Health & Science University to take a new at-home oral treatment for the condition.
Citovic and Wren Grabham, a 15-year-old Portland girl who lost the ability to walk from the condition and uses a wheelchair, thanked Nosse in a YouTube video for introducing the bill.
“It’s very good to have SMA on the newborn screening,” Citovic said. “It saves lives, and it’s very, very important to do it within two years.”
About 1 in 40 people carry the gene for spinal muscular atrophy.
“There are over 80,000 Oregon residents who don’t know that they’re carriers of this genetic disease,” said Cheryl Grabham, Wren’s mother.
“They don’t know that they’re carriers,” she said. “And for the first time, there’s something we can really do about it, but it relies on early testing.”
Alina’s parents, Trudy and Djordje Citovic, have reached out to state Sen. Betsy Johnson, who has supported the effort and plans to sign on to the bill when it reaches the Senate.
Along with saving the lives of children afflicted with the condition, Johnson and Nosse have pointed to the long-term savings that would come from early diagnoses and treatment.
“There are significant costs associated with caring for people who have persistent diagnoses,” Johnson, D-Scappoose, said. “It isn’t going to get better.”