Clinical Trial Saves Girl Born with No Bones

Physicians at a hospital in Vanderbilt ,Tennessee, were surprised and enthused when their experimental drug saved a little girl's life.

Janelly Martinez-Amador was born with hypophosphatasia (HPP), a hereditary disease that affects teeth and bones. In this condition bones cannot absorb calcium and phosphorous and eventually it makes them soft. Some people with this disease may also suffer broken bones and bone pain.

Janelly was diagnosed with the most severe form of HPP. Janelly failed to gain weight or grow, the physicians initially thought she had cancer.

Janelly did not have a rib cage to support lungs for breathing. But, with an experimental drug therapy by physicians at the Monroe Carell Jr Children's Hospital, her condition improved gradually. Now the doctors say there is visible development of her ribs.

The little girl, who will turn seven this May, was enrolled in a clinical trial at the age of 2 years and 8 months. She was one of the 11 children across the globe who participated in the trial. Doctors said they couldn't even see her bones on the X-rays and she was unable to move her body.

After 8 months of the treatment, Janelly's parents touched her fingers and could feel the developing bones. About 18 months into the trial, doctors could see a visible development of her rib cage.

In the U.S around one in 100,000 babies is affected with HPP. According to the doctors the most severe forms of this condition crop up before birth and early infancy. More than half of babies born with the disease do not even make it up beyond their first birthday.

"If you saw her in 2009 and see her now, it's not the same Janelly," said her mother, Janet Amador. "She used a ventilator, an oxygen mask - many machines to help her breathe."

Michael Whyte, M.D., the lead investigator of the study said that they were afraid that the treatment might not work as Janelly's condition was severe. "But by looking at the X-rays and hearing about her visits, we were thrilled to hear about her progress."

Janelly, now  attends the Harris-Hillman Special Education School near the hospital. Doctors said they were hopeful about removing her tracheostomy tube by this spring. The tube stops her from speaking. She will be tested for her developmental and cognitive abilities in July.

Terming the progress as impressive Janelly's physician Jill Simmons, a pediatric endocrinologist at Vanderbilt Children's Hospital, said that doctors opt for medicines only to bring change in a child's life. "My goodness, to go from no bones to bones, that's the most impressive thing I have seen as a physician. It's incredible."