Girl Born Without Bones Starts Developing Them After Treatment (VIDEO)

Janelly Martinez-Amador, a girl born without bones has finally started developing them after 18 months of treatment

Martinez-Amador was born with a rare disorder called hypophosphatasia, an extremely rare bone disorder that leads to the loss of bone mineralization during childhood. In layman's terms, she was born without bones. She cried when anyone held her and her mother was confused as to why this baby girl hated to be in her mother's arms. She was most comfortable when she was made to lie down on a pillow.

At a certain point, the parents realized something was not right with their baby girl.

"We started noticing she wasn't growing as she should at that point and she wasn't gaining the weight as she should at her age," her father said. "She didn't used to like to be held in my arms," her mother said. "The only thing she liked was to be put up on a pillow. That would make her comfortable."

Soon, Martinez-Amador wasn't able to move and each time her parents took her to the hospital, her bones never showed in the X-Ray. A little after her second birthday, Martinez-Amador was living on the support of tracheotomies and ventilators as the absence of ribs in her body made it difficult for her to breath.

Eight months later, her parents decided to put her in a clinical trial involving an experimental medicine, which included a biologic enzyme called asfotase alfa. Though she didn't show any signs of improvement at first, 18 months after being on the treatment, Martinez-Amador finally started developing ribs. It's been four years now and she is finally off ventilation and has started living somewhat of a normal life.

Her size now is half of children her age, but her bones are continuously developing, which is a good sign for doctors who hope to remove her tracheotomy tube in the spring.

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