Young bone patient’s progress serves as inspiration to others

Janelly Martinez-Amador grabbed headlines and hearts around the world three years ago when news spread of her remarkable fight for survival against a rare metabolic disease at Monroe Carell Jr. Children’s Hospital at Vanderbilt.

Born with a genetic disorder called hypophosphatasia (HPP), a metabolic disease that affects the development of bone and teeth, Janelly’s body was unable to make bone. 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.