When Jane Comfort was born to first-time parents Megan and Bryant Comfort on February 21, 2017, she seemed like the picture of health. She was 8 pounds and 2 ounces of rosy, round perfection. 

“Looking at her, you would never guess that a crippling genetic disease was taking a toll,” Megan Comfort says. 

But by April, the Comforts’ Bemidji-based pediatrician had diagnosed Jane with hypotonia, or low muscle tone. As a result, Jane was referred to University of Minnesota Masonic Children’s Hospital neurologist Peter Karachunski, M.D., and scheduled for a July evaluation. 

The young family happened to be traveling to the hospital in May for an assessment before an elective procedure to remove a growth from Jane’s lung. The course of Jane’s treatment changed drastically when pediatric surgeon Daniel Saltzman, M.D., Ph.D., noticed how weak she was. 

“What I saw was a baby who really wasn’t thriving,” says Saltzman, who holds the Arnold S. Leonard, M.D., Ph.D., Endowed Chair in Pediatric Surgery. 

Suspecting spinal muscular atrophy (SMA), he put a pause on the surgery and called Karachunski to suggest he see Jane right away. 

Turnaround 

SMA is a motor neuron disease caused by an imperfection or deletion in the survival motor neuron (SMN) 1 gene. The disease progresses gradually. 

“It eventually affects all skeletal muscles,” Karachunski explains, “including vital muscles that help with swallowing, talking, and breathing.” 

Genes come in pairs—one on each chromosome—so if a person has one incomplete SMN1 gene, he or she is a carrier of SMA but won’t exhibit symptoms. If both SMN1 genes are incomplete, SMA’s effects can become apparent, turning a family’s life upside down. 

When Karachunski evaluated Jane, he and Joline Dalton, M.S., C.S.C., the Comforts’ genetic counselor, saw that at 2 months old, Jane was cognitively advancing but missing physical milestones. 

Her symptoms—and their early onset—classified her as having type 1 SMA. Children with this devastating type of SMA usually don’t live to see their third birthdays, and only do so with the assistance of a feeding tube and around-the-clock respiratory support. 

Saltzman’s suspicion—and decisive action—set a life-changing series of events in motion. Fortunately for the Comforts, the U.S. Food and Drug Administration had approved a drug called Spinraza just months earlier. Spinraza is designed to change the SMN2 gene—which is otherwise inactive—in a way that allows it to function in place of the faulty SMN1. 

To get insurance coverage for the treatment, Jane needed genetic tests to confirm the mutation. Tests of this nature typically take weeks, but thanks to Dalton’s persistence in rushing the results, Jane received her first injection of Spinraza 10 days after her diagnosis.

Being that Spinraza is designed to stop SMA from progressing, Dalton’s initiative and Saltzman’s timely observation saved Jane from at least a month and a half of irreversible muscle deterioration. Had treatment started even a month later, Jane likely would have needed a feeding tube and 24-hour breathing support for the rest of her life. 

Paving the way 

The amount of time between diagnosis and treatment is crucial for most life-threatening genetic disorders, not just SMA. 

Thanks to the University’s Paul and Sheila Wellstone Muscular Dystrophy Center Neuromuscular Registry, funded in part by philanthropy, U of M care providers can search a patient’s crucial genetic information to quickly match him or her to the appropriate drug, such as Spinraza, or a fitting clinical trial. 

“Genetic information is in the medical record,” explains Dalton, who worked with Karachunski to develop the registry, “but it isn’t searchable. And since we serve so many people, we just need to know that information in a different, faster way.” 

The U’s new registry also allows care providers to compare their decisions and performance with other registries across the country, fostering further innovation. 

Since the registry’s inception in December 2016, the U team has treated nearly 50 SMA patients with Spinraza. 

“Our being able to provide this many patients with effective and timely care doesn’t just happen out of nowhere—it happens because of philanthropic support,” Karachunski says. 

Now, after 10 months of regular Spinraza injections, Jane eats on her own without a feeding tube, smiles, and “talks”—all things that would not have been possible without treatment. 

“She is no longer declining and has a good quality of life,” says Karachunski. “It is quite remarkable.” 

Jane’s mother brims with pride. “When she grows up, I can’t wait to tell her about how her journey paved the way for SMA patients,” Megan Comfort says. 

And that’s just it—Jane gets to grow up. 

“Shortly after Jane was diagnosed,” Megan Comfort recalls, “Joline said to me, ‘We will all be at Jane’s high school graduation.’ I will never forget that.”

To learn how you can support this registry, contact Emily Wingfield of the University of Minnesota Foundation at 612-625-9903 or ewingfie@umn.edu.