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Evie's legacy: More babies to be screened for spinal muscular atrophy

Jan Malcolm, commissioner of the Minnesota Department of Health, and Randal Richardson, pediatric neurologist with Gillette Children's Specialty Healthcare in St. Paul, announced Monday that spinal muscular atrophy has been added to the newborn screening panel in Minnesota. They are standing next to a photo of Evie Keister, who died of the rare neuromuscular disease in 2014 at the age of two. (Photo courtesy Minnesota Department of Health)1 / 2
Evie Keister, the daughter of Bryan and Carissa Keister, died of a rare neuromuscular disease called spinal muscular atrophy in 2014 at the age of two. (Photo courtesy of Bryan and Carissa Keister)2 / 2

ST. PAUL—When Bryan and Carissa Keister's daughter Evelyn Adele was born six years ago, her Apgar score was high and her newborn screening tests came back normal. Within a few months, however, it was clear that something was wrong. Evie's head wobbled, her knees buckled and she started to cry every time her parents put her on her tummy.

When she was six months old, Evie was diagnosed with spinal muscular atrophy, the most common genetic cause of early childhood death in the U.S. By then, the disease had taken hold, Carissa Keister said Monday, March 5.

"It seemed with each new day, she'd lost something she'd had the day before," Keister said. "Almost overnight, she went from being healthy and perfect to weak, fragile and critically ill."

Evie lost the ability to move, swallow and breathe; she died nearly four years ago at the age of two. Had newborn screening for SMA been available, Keister said, Evie could have been treated immediately and could have had a "very real possibility of delaying or even avoiding the most severe of symptoms."

On Monday, the Minnesota Department of Health announced that all newborns in Minnesota will now be screened for SMA unless their parents opt out of screening.

"Adding SMA to the state's newborn screening panel is an important move that will help save families from the heartbreak of losing a child or losing precious time where treating their child could result in better outcomes," said Minnesota Health Commissioner Jan Malcolm at a news conference at Gillette Children's Specialty Healthcare in St. Paul. "This addition is the result of hard work by many people, including concerned parents and public health officials. We thank them for their efforts."

SMA affects about one in every 6,000 live births each year in the U.S. The disease robs people of physical strength by affecting the motor-nerve cells in the spinal cord, taking away the ability to walk, eat or breathe. In December 2016, the FDA approved a treatment for SMA called Spinraza, which targets the underlying genetic cause of SMA.

Cure SMA's Megan Lenz said there is clear, clinical evidence that treatment is most effective when given early before significant motor neuron loss occurs.

"By six months, infants with SMA Type 1 — the most severe and most common form — have lost 90 percent of their motor neurons," Lenz said. "With such a short window for optimum intervention, newborn screening is the best way to ensure that infants with SMA will have the opportunity to receive life-changing early treatment."

Minnesota has one of the most comprehensive newborn-screening programs in the country, and it is one of the first states to screen for SMA, Malcolm said. Health department officials began newborn screening in 1964 with screenings for PKU (phenylketonuria); officials now screen for 61 conditions, including hearing loss and critical congenital heart diseases, Malcolm said.

About 70,000 babies are born each year in Minnesota, and about 200 to 250 families opt out of newborn screenings each year, according to health department officials.

A disorder is considered for addition to the newborn screening panel when there is "enough scientific understanding to develop a reliable test and when effective treatment or therapies are also available," Malcolm said.

Keister, who has pushed for the addition of SMA to the newborn screening panel, said Monday's news was a cause for celebration.

"Evie and the other SMA angels ... are rejoicing in heaven," Keister said. "Five years ago, there was absolutely nothing we could do for our baby. Today, there is a treatment that when given early can actually delay or prevent the SMA from taking hold. Today, a child with SMA at birth isn't given a death sentence like Evie was. They are given a very real chance at a better life."

The Keisters, who live in Lakeland, Minn., are expecting another daughter who is due at the end of April.

Carissa Keister, who serves as the spokewsoman for the Stillwater Area School District, said she is glad their daughter, as yet unnamed, will be born in a very different world—"one in which SMA is still an ugly diagnosis, but not a hopeless death sentence."

The St. Paul Pioneer Press is a media partner with Forum News Service.