Thanks to a newborn blood spot screening, a new member of the Sauk Centre community has a chance to grow and develop without complications.

Kevin and Kelsey Herickhoff, parents of Leah, 4, and Noah, 2, welcomed their youngest child, Myra, to their family Aug. 12 at CentraCare Health-Sauk Centre. Less than two days after birth, a blood sample was taken from Myra to screen for potential rare, yet treatable, genetic diseases.

“All babies who are born in Minnesota are screened for over 60 rare conditions,” said Dr. Ulrika Wigert, family medicine physician at CentraCare Health-Sauk Centre. “There are many disorders that we test for: metabolic, immune system, blood, hormone and genetics are a few examples.”

The newborn blood spot screening is simple. 

“A lady from the lab came in, and they just prick the heel of the baby and dab blood on this sheet of paper,” Kelsey said. 

Kelsey said the sample is sent to the Minnesota Department of Health where it is screened for results. At 10 days old, Myra was diagnosed with SMA. 

SMA, or spinal muscular atrophy, is the No. 1 genetic cause of death in infants. An untreated infant with SMA has a life expectancy of two years. The genetic disorder affects approximately one in every 11,000 infants, and about 1 in every 50 Americans is a genetic carrier.

SMA is a disease that affects the motor cells in the spinal cord. With SMA, the body no longer produces the protein necessary for nerves to control muscles; the nerves eventually die, leading to muscle weakness and difficulty breathing and swallowing. 

“When I first found out, I had no idea what SMA even was, so I didn’t have a clue how to feel about it,” Kelsey said. “But as we researched it, it hit us pretty hard. There was a lot of tears. If you Google SMA, you see just little kids lying down flat with wheelchairs and tubes.”

When the Herickhoffs learned the news about Myra, they traveled to the University of Minnesota Health Pediatric Specialty Care Discovery Clinic in Minneapolis.

“That was a tough day because we thought we might have to bury our daughter,” Kevin said.

Soon, though, the family was told of a new treatment available for SMA. 

In December 2016, the FDA approved the drug Spinraza. Spinraza helps the body produce the protein needed for proper nerve function.

Because Myra’s condition was detected early through the newborn screening, her prospects for healthy development are good.

“With modern medical equipment, the lifespan is prolonged in some kids, but they have respiratory issues,” Kelsey said. “They have their medical equipment that they’re hooked up to for breathing and eating and stuff. … as long as Myra remains asymptomatic with the treatment, she shouldn’t need it.”

SMA was not always on the list for the newborn screening. It is up to each state to add the costly SMA screening to its list. In March, Minnesota became the third state to add SMA to screening, and Myra is the third infant in Minnesota to be diagnosed with the disorder. So far, seven states have adopted the SMA testing.

“Minnesota is a state that has been very progressive at adding new things when appropriate to the screening tests,” Wigert said.

The addition of the screening came at an optimal time for the Herickhoffs. 

“We’re thankful it wasn’t Leah or Noah who had the SMA because there wouldn’t have been the treatment for it at the time or the screening,” Kevin said. “Now with the screening, we’re hopeful Myra can grow and develop, not regress.”

Still, many states have yet to add SMA to the screening list. The Herickhoffs encourage families to not opt out of the newborn screening and to call for other states to add SMA testing.

“I’ve written letters to our senators and our representative, even to President Trump, voicing the importance of providing funding to these states,” Kelsey said. 

Other organizations donate money towards states to help fund the newborn screening.

“There’s babies born every day who are going undiagnosed with SMA, and they’re slowly losing muscle movement,” Kelsey said. “Here they could be like Myra, getting treatment right away and not losing that muscle movement or muscle strength.”