Janelly Martinez-Amador, who was born without bones, plays on the floor at her Nashville home (Jae S. Lee/The Tennessean)
NASHVILLE, Tenn. (THE TENNESSEAN) -- 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.
One of 11 children worldwide enrolled in the clinical trial, she was the runt of the bunch. Her disease was so pronounced she could not move her body. Her bones didn't even show up on X-rays. She was also the youngest, a few months shy of meeting the trial's age requirement.
But Vanderbilt physicians had been telling Dr. Michael P. Whyte, a metabolic bone disease specialist with Washington University School of Medicine in St. Louis, about Janelly.
Whyte was about to start a clinical trial for a new drug, a biologic enzyme called asfotase alfa, that he wanted to try on toddlers with hypophosphatasia. Although this genetic disorder can cause a wide spectrum of bone loss in people of all ages, patients like Janelly diagnosed as infants have the most severe form. They usually die in infancy.
Janelly was diagnosed around 4 months old.
"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," Martinez said with the aid of a Spanish interpreter.
The baby responded to hugs as if in pain.
"She didn't used to like to be held in my arms," Amador said through an interpreter. "The only thing she liked was to be put up on a pillow. That would make her comfortable."
Pediatricians thought she might have cancer when they sent her to the Vanderbilt hospital. Vanderbilt diagnosed the severe form of hypophosphatasia - a rare disorder that occurs in only one of every 100,000 infants.
Complications from the disease worsened to the point that Janelly spent months in the intensive care unit before her first birthday. She had to get a tracheotomy, an opening in her windpipe for a breathing tube. When her parents brought her home from the hospital, they also took home a ventilator.
They held onto hope for a cure.
Get the rest of the story here: Story Of Jannelly Martinez-Amador