A child frolicking in a kiddie pool is usually a comforting sign of summer. For the Rupp family, it started an unexpected journey into a rare disorder.
Austin Rupp was a typical 21-month-old boy in that pool last July, until he fell down and his leg twisted into an unnatural shape. Austin’s father, Drew Rupp, a nursing student, knew immediately that the leg was broken.
He rushed Austin to the nearest hospital emergency department. Mom Jayna Rupp met them there. After taking X-rays, doctors said the break was too severe for them to handle, so Austin was taken by ambulance to Akron Children’s.
After being admitted, Austin’s nurse pointed out that the blue/gray color of the boy’s sclera – or the “whites” of his eyes – was an indicator of osteogenesis imperfect (OI), also known as brittle bone disease.
It was a shock for the family who thought that this was a simple, though unfortunate, broken bone. Austin’s doctor agreed with the assessment and a genetic test confirmed it.
“We were speechless,” says Jayna. “We immediately got on our smartphones and starting reading up on it.”
Austin has Type I OI, which is the mildest form of the condition. “I’m thankful for that,” adds Jayna. “It could have been much worse.”
Still, little Austin most likely has a childhood of broken bones ahead of him.
“They estimate he’ll probably have one or two breaks per year through adolescence,” says Jayna. “Then it will level off in adulthood until he reaches old age. But he should be able to have a relatively normal adult life.”
For now, Jayna and Drew are determined not to shelter Austin, who had been walking for a few months at the time of the first break. Today, he’s running and beginning to jump. He’s also on a regimen of calcium and vitamin D to help strengthen his bones, with annual appointments set up at Akron Children’s.
“Akron Children’s has been an incredible experience,” says Jayna. “They made us feel at home and have done everything they can to educate us. OI is not that common, so they’ve shared resources and even helped us get in touch with another family with an OI child. It’s been very encouraging.”
Hear more about Austin’s story – and those of other patients – by tuning in to the 17th annual “Have a Heart, Do Your Part Radiothon,” broadcast live from Akron Children’s Hospital Atrium by 98.1 KDD Feb. 11-13. Click here to support the 2016 Radiothon.