Nari Sprague springs out of the house, headed for her backyard swing set. Like many 2-year-olds, she loves careening around the yard. Unlike other kids her age, though, she has to wear a special backpack when she does.
The backpack is designed to resemble a bumblebee, and Nari has even given it a name: Izzy. But it’s not the cute exterior or the even-cuter name that set this backpack apart. It’s what’s inside. The backpack contains Nari’s home infusion pump – a critical medical device that delivers medication directly into Nari’s bloodstream, allowing her to live and play like other toddlers.
In November 2017, newborn Nari was sent home with her joyful, first-time parents, Matt and Kelly Sprague. Several days later, their excitement at starting a new family was overshadowed by a phone call from the Genetic and Metabolism team at M Health Fairview University of Minnesota Masonic Children’s Hospital.
Nari had tested abnormal on the standard newborn screening for Pompe disease, a rare genetic condition that occurs when the body is missing an enzyme, called acid alfa glucosidase (GAA). Without the enzyme, a person is unable to process glycogen, a complex sugar. Instead, the sugar builds up in organs and tissues, eventually causing life-threatening complications.
In a way, Matt and Kelly were lucky. In 2017, just months before Nari was born, Minnesota added Pompe disease to its standard newborn screening exams, meaning all newborns in the state are now automatically tested for this progressive disease shortly after birth. Pompe disease is only diagnosed in an estimated one in 40,000 newborns, according to the National Institutes of Health. Nari was one of the first infants statewide to test positive with the newly implemented screening.
Though the diagnosis was devastating for the Spragues, this early detection meant Nari could receive critical treatment just days after her birth, when the chances of stopping or limiting the disease’s progression were much better.
“Without the early diagnosis, Nari might have missed out on the early care and treatments that are so important,” Nari’s father, Matthew, said. “We are extremely grateful.”
In the days following her diagnosis, the Sprague family connected with M Health Fairview Genetics and Metabolism Physician Chet Whitley, MD, PhD, a professor in the Department of Pediatrics at the University of Minnesota Medical School, and Doctor of Pharmacy Jeanine Jarnes, PharmD, an adjunct assistant professor in the University of Minnesota College of Pharmacy.
Patients with Pompe disease are typically treated with an enzyme replacement therapy that provides them with the missing enzyme they need to process complex sugars. After learning more about Nari’s particular form of Pompe disease, Whitley consulted Jarnes, who recommended a unique, customized treatment plan for Nari.
Twice weekly, the Spragues traveled to University of Minnesota Masonic Children’s Hospital for 10 hours of infusion therapy. Nari began the therapy when she was just 14 days old. Jarnes, who implemented Nari’s treatment plan, accompanied the family to many of their appointments to support their needs.
“Although enzyme replacement therapy for Pompe disease is FDA-approved and the standard of care, no one had ever tried the customized plan that Nari received,” Jarnes said. “The goal was to treat the disease early to prevent the permanent damage that often occurs early – within the first days of life.”
An astounding turnaround
The groundbreaking treatment plan made a world of difference for Nari. Left untreated, infantile Pompe disease will cause progressive muscle weakness, developmental and motor skill delays, difficulty breathing and many other complications, even death in infancy. When she began treatment just days after her birth, Nari had already developed heart failure – a common complication of infantile Pompe disease.
Fast forward two years, and Nari’s heart function is normal. At this time, she remains relatively free of Pompe disease complications and has met or exceeded all of her developmental milestones – a fact that has delighted Whitley, Jarnes and other members of her care team.
“If Nari had been diagnosed and started treatment when she developed symptoms, she would not be walking and climbing or doing many of the things most 2-year-olds can do,” Whitley said. “Because of newborn screening and Dr. Jarnes’ research; her out-of-the-box thinking based on many years of experience treating rare diseases; and her tremendous efforts, Nari appears to be making all normal milestones.”
Eventually, Nari moved from routine hospital care to outpatient clinic treatments. Then, after observing her success, Nari’s care team decided she could receive her ongoing enzyme replacement therapy at home. This move was important for the Spragues – home infusion using Nari’s specially designed bumblebee backpack would reduce the amount of time the family spent in a clinic or hospital and give Matt the opportunity to work from home.
Now, Nari is receiving home infusions three days a week and receives support from her favorite team of nurses, who administer the enzyme replacement therapy. Matt and Kelly often describe Nari’s post-diagnosis life as a “new normal.”
“It’s all she’s known, and she is really good at accepting it,” Matt said. “Not to say we haven’t had times where she’s pushed back, but the majority of the time, Nari does very well with the whole process.”
These days, it’s not uncommon for Matt and Kelly to find dolls or stuffed animals dressed up with medical bandages or IV tubing – another sign that Nari is adapting to life with Pompe disease.
Jarnes attributes Nari’s success to the state’s early screening program, the unique treatment plan that was customized for Nari – and multi-disciplinary collaboration between all of Nari’s care providers, including University of Minnesota Masonic Children’s Hospital, Fairview Specialty Pharmacy, and Fairview Home Infusion.
“It’s not just us coming up with a special treatment plan, it’s the whole system coming together,” Jarnes said. “All these different groups within our system went out of their way to do something unconventional to help this little girl.”