A young girl with a rare condition that prevents her body from growing bones is being given new prospects of survival thanks to a pioneering treatment.
The report on seven-year-old Janelly Martinez-Amador comes from Fox News. Janelly has a severe form of a rare genetic condition called hypophosphatasia, which prevents bone and teeth from mineralizing as the body grows. Generally, the younger a person is diagnosed with hypophosphatasia, the more severe their symptoms. Half of the infants diagnosed with the condition die. Though Janelly is seven, she is only the size of a toddler. She was born without ribs, which necessitated her being kept on life support after she was born because she didn't have the skeletal structure to support breathing.
Her disease inhibited her from moving her body and was reportedly so painful that she would wince in pain when touched.
When she was three years old, Janelly became the smallest of 11 children selected from around the world to partake in a trial of a new biologic enzyme called asfotase alfa. The treatment was developed by Alexion, a biopharmaceutical company that focuses on treatments for ultra-rare diseases. The company states that it has "strong data" from its study on how asfotase alfa worked on infants, and is ready to move on to trials in adolescents and adults.
The effects of the treatment seem to be working for Janelly.
Fox, citing a report by the Tennessean, said the girl's parents noticed a gradual change in her ability to control muscle when she began the treatment, but no bone growth. Eighteen months into the treatment her ribs began to form. Her bones are still slowly growing.
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