Jaelyn Butikofer was a seemingly healthy baby when she was born in February 2010. But at 4 months old, her parents, Andrea and Aaron, grew concerned about their daughter.
“She had trouble eating, which led to trouble growing,” remembers Andrea. “She lost weight and then she started not meeting her gross motor and developmental milestones.”
After months of testing, the Butikofers received a call from Jaelyn’s local doctor in December 2010.
“She was very concerned for Jaelyn’s overall health. They had done everything they could do locally. Jaelyn needed more help than they could provide,” Andrea says.
Jaelyn was referred and immediately admitted to University of Iowa Stead Family Children’s Hospital. Weighing only 10 pounds at 10 months old, her care team suggested a feeding tube to provide the nutrients she needed to grow. They also recommended performing genetic tests to determine the cause of Jaelyn’s issues.
When Jaelyn went home on New Year’s Eve, her doctors believed she may have spinal muscular atrophy, but further testing soon revealed negative results.
“Everything they checked for seemed to be negative, or ‘normal,’” says Andrea. “Every time, we said, ‘if it’s not that, then what could it be?’”
In an attempt to find a diagnosis, Jaelyn has undergone EMGs (electromyographies) that measure muscle and nerve activity, plus biopsies, MRIs, and genetic tests. Her team—the only genetics team in Iowa—performed whole exome sequencing, which is an extensive and thorough way to find a genetic cause for a patient’s symptoms.
“It’s the most cost-effective and time-efficient way to check for a genetic condition when you’ve already had years of testing and it’s basically your last hope,” explains Andrea.
Despite exome sequencing, Jaelyn still has an undetermined diagnosis. Her care team believes she likely suffers from one or more rare disorders, possibly ones that have yet to be discovered.
“When we tell people Jaelyn has an undetermined diagnosis, they’re baffled and think doctors have failed us or her. We feel that’s not the case at all,” says Andrea. “Jaelyn may be rare in the fact that she does not have a diagnosis, but what's not rare is the excellent care that she's received from UI Stead Family Children's Hospital.”
“Jaelyn’s team here is innovative,” Andrea adds. “They care so much about her, and they work so hard to try to get to the bottom of her disorder.”
Some symptoms of her disorder include hypotonia (muscle weakness), myokymia (involuntary eyelid twitching), the inability to bear weight on and extend her legs, scoliosis (curvature of the spine), severe reflux, brittle bones, difficulty speaking, and developmental delays. Jaelyn has undergone physical, occupational, feeding, and speech therapies, and she continues working with her care team to address her needs.
“We do hope they find a [disease] name so then there’s this magical drug we can give her,” says her father, Aaron.
Jaelyn is spunky, fun, and full of life. She loves singing and riding the school bus, and she and her little sister, Shelby, have an unbreakable bond. Throughout her journey, Jaelyn has inspired those around her.
“We haven't given up hope on anything,” Aaron says. “Jaelyn’s journey has been a blessing in disguise. It’s really humbled my family and me. We just look forward to spending the rest of our lives with her.”