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Enzyme-Replacement Therapy Helps Regenerate Girl's Fragile Bones, Monroe Carell Jr. Children's Hospital Reveals


4/23/2013 7:44:39 AM

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Janelly Martinez-Amador is responding to treatment for a rare genetic disorder that caused her bones to become soft. (photo by Daniel Dubois). Four years ago, Janelly Martinez-Amador was confined to a bed, unable to move even an arm or lift her head. At age 3, the fragile toddler had the gross motor skills of a newborn and a ventilator kept her alive. She was born with thin, fragile bones, and by 3, she had no visible bones on X-rays. Initially, doctors weren’t sure she would survive her first birthday. In May, Janelly will turn 7, and 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.

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