Tennessee Girl Born Without Bones Is Treated by Washington U. Expert
ST. LOUIS (KMOX) - A tiny Tennessee girl, born nearly seven years ago without bones, is growing and thriving today thanks to medical guidance from a local metabolic bone disease specialist.
Washington University’s Dr. Michael Whyte works with many genetic disorder patients at Shriners Hospital of St. Louis. His colleague Amy Reeves says he is considered the foremost expert in the world on this type of rare condition, hypophosphatasia.
“So anytime one of these rare cases comes up, he’s called because he’s got a lot of information to help them direct the treatment,” she said.
In the case of tiny Janelly Martinez-Amador, she slowly showed improvement after receiving an experimental drug at the age of three months.
“At nine months the x-rays came in and we saw bones were forming, there were minerals going into the bones. It was almost a miniature little celebration in here,” Reeves said. “Dr. Whyte was so happy and we were so pleased.”
Though still just the size of a toddler, Janelly is now darting around in a stroller and able to move all of her limbs.
“At this point, the sky’s the limit,” Reeves said. “She can really go places.”