Newborn screening gives Gretna 5-week-old a head start on treatment

MJ, they learned, had a rare genetic condition called spinal muscular atrophy, or SMA, a progressive condition that leads to weakened muscles. In its worst forms, it affects the muscles needed for vital functions like breathing and swallowing.

Initially, the Gretna couple were devastated. But now they say they are grateful — grateful the condition was caught, grateful it was caught early and grateful for new treatments.

A change in state law that took effect in September 2020 added SMA to Nebraska’s newborn screening panel, the heel-prick blood test that all babies in the state receive at birth. Catching the condition so early meant MJ could undergo one of three new treatments for SMA, most approved within the last half-dozen years, before damage was done.

On Friday, MJ lay in his mother’s arms at Boys Town National Research Hospital as one of those treatments, a one-time gene therapy called Zolgensma, trickled into his tiny body.

“We’re very grateful for everything, knowing what the outcome could be and what some other families have (had) to deal with,” John Hoodjer said.

In fact, the rush to get MJ treatment began with that first phone call. The family’s pediatrician told them to go directly to Boys Town, where Dr. Matias Lopez Chacon, a neurologist who specializes in pediatric neuromuscular medicine, would meet them. John Hoodjer said the family arrived within an hour.

In people with SMA, the body doesn’t produce enough of a protein that certain nerve cells in the spinal cord need to survive.

Lopez said research indicates that it’s best to start treatments within six weeks of birth in order to prevent neurons from dying.

“At his age, the whole point was to start treatment before he presents with any symptoms whatsoever,” he said of MJ.

The first step was additional testing to confirm MJ had SMA — the heel-prick tests are for screening, not diagnosing — and then to determine the likely severity of his condition. That generally depends on the number of copies of a gene that plays backup to the main protein-producing gene, which is mutated or missing in people with SMA. That takes a couple of weeks.

While MJ does not have one of the most severe forms of SMA, Lopez said, it would eventually produce symptoms, although timelines vary. An expert panel in 2020 voted to recommend that children in his situation be treated immediately, rather than watching and waiting.

“We just can’t get that risk going,” he said. “If neurons are dying, we can’t recoup those neurons later on.”

Nebraska’s newborn screening panel now checks for 35 conditions that, like SMA, can be treated in time to prevent or reduce the problems associated with them if caught early.

As of last fall, Nebraska was one of 16 states that screen for all conditions recommended by federal health officials, according to the state Department of Health and Human Services. Each year, the screening identifies approximately 60 babies with one of the listed conditions. Forty-eight states, including Nebraska, now screen for SMA, according to Cure SMA, an advocacy and support group.

With the start of the infusion Friday, MJ became the first youngster in the state identified with SMA by the newborn screening to undergo pre-symptomatic treatment, state health officials confirmed.

He’s also the first treated for SMA at Boys Town. Children’s Hospital & Medical Center also has treated children for SMA. The Food and Drug Administration approved Zolgensma in 2019.

“This medication has completely shifted the course of this disease,” Lopez said.

MJ was scheduled to stay overnight Friday for observation. He’ll have weekly checkups for the next three months.

But Lopez said he expects the youngster to hit all of the usual developmental milestones in the months and years to come.

“I would anticipate him to be a completely healthy kid,” Lopez said.