ARENA, Wis. - Three-year-old Cora Shelton loves gymnastics. She started going to a gymnastics center in Arena last fall, something her parents and doctors thought she would never be able to do.
"Cora has a genetic disease where her kidney leaks phosphorus," said Dr. Neil Paloian, with the Pediatrics Bone and Minderal Metabolism Clinic at the American Family Children's Hospital. "It was obvious to everyone who walked in the clinic that she was super bow-legged."
Doctors call it XLH. Shelton was diagnosed with it when she was 1 year old. Her parents, Kristen Roelke and Andy Shelton, first noticed she was a little different when she was about 6 months old.
"We didn't really know what to think," Roelke said. "There was a lot of Googling and there's not really a lot out about XLH because it's so rare."
Only four out of every 100,000 people have XLH. The disease can cause short stature, the inability to run and limping when walking.
One year ago, Shelton started taking a new drug that had been recently approved by the FDA.
"She was actually one of the first people that started on the medication. So she's really kind of our test subject," Paloian said.
Within one year, Shelton's walking improved significantly and she is now thriving in her gymnastics class.
The picture above shows the difference in Shelton's bone structure in the year she's taken the new drug.
"It wasn't that long ago that she wasn't able to run, she wasn't able to do stairs on her own and now she is running on a balance beam, bouncing on a trampoline, doing cartwheels and in such a short amount of time," Roelke said. "It's mindblowing and so exciting."
Paloian said he will continue to track Shelton's progress as she grows older. Shelton has to be injected with the medicine twice a month until she is 18 years old. After turning 18, she takes it once a month for the rest of her life.
Roelke said Shelton is used to the injections now that she's had them for a while. Now, Roelke is just excited to see what else her little girl can do.
"To see her to that well within a year is exciting," Roelke said.