YUKON, Okla. (KFOR) - 13-year-old Sydney Rutz is busy at Yukon Middle School.
“Drama, show choir, Girl Scouts and winter guard,” Sydney Rutz said.
Not atypical for a child her age, but there is something that makes Sydney unique. She’s much smaller than the other students her age.
“3'11". I tell people I`m four foot but,” Sydney said.
Sydney was born at 4 pounds, 9 ounces.
“She`s a dwarf and she has a lot of bone issues. A lot of pain. A lot of stuff that we deal with se doesn`t have a lot of energy. Her muscle tone is very decreased,” Sydney’s Mother Mary Rutz said.
But her diagnosis didn't have a name until this summer after scientists at Oklahoma Medical Research Foundation discovered her syndrome through years of research.
It took years to figure out there was an issue getting collagen out of a cell and into the area associated with bone growth.
"At the time there had been no human disease associated with mutations in that gene and so we were pretty excited about that,” Dr. Patrick Gaffney, scientist at Oklahoma Medical Research Foundation said.
A condition that took Sydney a while to learn to pronounce.
Sydney is the first ever known person diagnosed with the condition and the findings were published in a medical magazine this summer.
Word got out about Sydney’s unique condition, and the family got a call this summer from a family in Broken Arrow, Oklahoma. Their 7-year-old daughter Madison was also diagnosed with the same disorder after hearing Sydney's story.
“How does it feel to be one of two in the entire world that has this?” Reporter Lacey Lett asked Sydney.
“It feels good. I like it,” she responded.
Now scientists at OMRF are working on a therapy for this extremely rare disease and to find others who may have it.
"Now what I hope what we do is identify more people that have this same sort of syndrome as Sydney and Madison but now have a genetic diagnosis for them,” Dr. Gaffney said.
“I`ve always told Sydney that that would be the best thing for her to do this research for,” Rutz said.
The scientists at OMRF are hoping to re-purpose a drug that's already FDA approved. It could take a few years before it will go to clinical trials.