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Drug Treatment Helps Girl Born Without Bones Grow

Update Date: Apr 22, 2013 09:36 AM EDT
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Being born without bones sounds like a scene from a movie, but for parents, Salvador Martinez and Janet Amador, it was reality. Janet gave birth to a beautiful daughter, Janelly Martinez-Amador, who suffered from the most extreme form of hypophosphatasia, which is a genetic condition that prohibits the bones from mineralizing. Janelly was born without ribs, making breathing impossible without the help of tubes and machines. Despite this unfortunate beginning, Janelly persevere through her condition and survived in time to be entered into a clinical trial that aimed to help regrow bones.

Janelly was just two years and eight months when she became a part of a clinical trial that enroll ten other children worldwide. The trial included using experimental medicine and was located at the Monroe Carrel Jr. Children's Hospital at Vanderbilt in Nashville. Of the 11 children who were recruited for this trial, Janelly was the youngest and did not technically meet the trial's age requirement, which was set at three-years-old. Janelly's condition was also the worst out of the group. She could not move on her own and her bones could not even be seen on x-rays. Regardless of these many disadvantages, Janelly came out of the trial four years later dancing with joy.

Janelly was diagnosed at the young age of four-months after doctors noticed that her growth was stunted and that she winced from pain when people attempted to hug her. This disease, which afflicts one per 100,000 infants, often results in death. Fortunately for Janelly, an experimental drug manufactured by Enobia Pharma corp, a Canadian-based company, became the first possible option for this rare condition. The doctors had to insert a special port via invasive surgery into Janelly's abdomen, where she would start receiving infusions. Although other children within the trial showed improvement within the first three to six months, it took Janlley a little bit longer. It was not until one year after the start date that Janelly started to move her limbs and after 18 months, Janelly's ribs began to form.

"It was literally within those few weeks that her pulmonologist really started to notice significant improvements and was able to back her off on a ventilator. It was fascinating how the calcification of those ribs really significantly turned her around," Dr. Jill H. Simmons stated. Simmons is a pediatric endocrinologist at Vanderbilt children's hospital.

Although Janelly still has a long way to go, this clinical trial has given her a new chance on life. 

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