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AROUND THE MEDICAL CENTER :: WINTER 2014
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Therapy helps regenerate child’s undeveloped bones


By Christina Echegaray
August 2013

Photo by Daniel Dubois

Photo by Daniel Dubois

Janelly Martinez-Amador had no visible bones on X-rays.

She was born with bones so fragile and thin that they were not detectable. Initially, doctors weren’t sure she would survive her first birthday. At age 3, she had the gross motor skills of a newborn and a ventilator kept her alive. She was confined to a bed, unable to move even an arm or lift her head.

Janelly has a rare genetic disorder called hypophosphatasia (HPP), a metabolic disease that alters the development of bone and teeth and affects one in 100,000 babies born in the United States. An enzyme deficiency causes the bones to become soft because they can’t absorb important minerals such as calcium and phosphorus, increasing the risks for pain, broken bones and bone deterioration.

“Imagine your child laying all the time in bed, not being able to lift herself, not being able to move herself, making sure she is not falling or tripping on things,” her father, Salvadore Martinez, said through a Spanish interpreter.

Janelly, now 7, is developing bone with the help of an experimental drug therapy and her care team at the Monroe Carell Jr. Children’s Hospital at Vanderbilt.

“If you saw her in 2009 and see her now, it’s not the same Janelly,” said her mother, Janet Amador.

Janelly is participating in a clinical trial to receive an enzyme-replacement drug therapy, asfotase alfa, for the life-threatening form of HPP. Michael Whyte, M.D., the lead investigator of the study and medical-science director of the Center for Metabolic Bone Disease and Molecular Research at Shriner Hospitals for Children in St. Louis, published results in the March 2012 New England Journal of Medicine.

Improvement continues each day, each week for Janelly.

“This is why we get into medicine in the first place: to truly make a difference in the life of a child,” said Jill Simmons, M.D., her physician. “My goodness, to go from no bones to bones. That’s the most impressive thing I have seen as a physician. It’s incredible.”

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