published Monday, April 22nd, 2013

Tennessee child born without bones saved by experimental therapy

  • photo
    Janelly Martinez-Amador, 6, who was born without bones, plays on the floor at her Nashville home.
    Photo by The Tennessean /Chattanooga Times Free Press.

Nurses didn’t know a breakthrough drug was on the horizon when they dressed the tiny little girl in a pink outfit for a hospital photographer to take her picture.

It was a photograph for her parents — an image of solace so they could remember Janelly Martinez-Amador free of tubes. Doctors told them then there was nothing more they could do for a child without bones.

Born with the most severe form of hypophosphatasia — a genetic disorder that prevents skeletal mineralization — the girl didn’t have the ribs to support breathing. Her parents, Salvador Martinez and Janet Amador of Antioch, were facing the prospect of deciding whether to take her off a ventilator.

But Janelly held on long enough for a last chance at life. At age 2 years and 8 months, she entered a clinical trial involving an experimental medicine at Monroe Carell Jr. Children’s Hospital at Vanderbilt. Four years later, Janelly can dance.

Read more at The Tennessean.

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