When Jane Comfort was born in February 2017 to first-time parents Megan and Bryant Comfort, she seemed like the picture of health—8 pounds and 2 ounces of rosy, round perfection.
But by April, the Comforts’ pediatrician had diagnosed Jane with hypotonia, or low muscle tone. As a result, she was referred to University of Minnesota Masonic Children’s Hospital neurologist Peter Karachunski and scheduled for a July evaluation.
The young family happened to be traveling to the hospital in May for an assessment for an unrelated elective procedure, and that’s when the course of Jane’s treatment would drastically change.
“What I saw was a baby who really wasn’t thriving,” says pediatric surgeon Daniel Saltzman.
Suspecting spinal muscular atrophy (SMA), he put a pause on the surgery and called Karachunski to suggest he see Jane right away.
SMA is a motor neuron disease caused by an imperfection or deletion in the survival motor neuron (SMN) 1 gene.
“It eventually affects all skeletal muscles,” Karachunski explains, “including vital muscles that help with swallowing, talking, and breathing.”
When Karachunski evaluated Jane, he and Joline Dalton, the Comforts’ genetic counselor, saw that at two months old, she was missing physical milestones.
Jane’s symptoms classified her as having type 1 SMA. Children with this devastating type of SMA usually don’t live to see their third birthdays.
Thanks to Saltzman’s suspicion—and Dalton’s persistence in rushing the test results—Jane received her first injection of Spinraza, a new drug designed to change the SMN2 gene, just 10 days after her diagnosis.
Had treatment begun even a month later, Jane likely would have needed a feeding tube and 24-hour breathing support for the rest of her life.
Now, Jane eats on her own, smiles, and “talks”—all things that would not otherwise have been possible.
“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.”
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This story appeared in its original form in the University of Minnesota Foundation's Discovery magazine.
Photo by Brady Willette
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