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Experimental drug helps girl born without bones

A breakthrough drug has helped a little girl survive after being born without many of her bones, The Tennessean reported.

Janelly Martinez-Amador was born with hypophosphatasia, a genetic disease that disrupts the mineralization process of a person’s bones and teeth.  The disease occurs in about one out of every 100,000 infants, and Janelly had the most severe form of the condition – which is usually fatal.

At birth, she didn’t have ribs to support breathing, according to the Tennessean. Her parents, Salvador Martinez and Janet Amador, wondered if they would have to take their daughter off life support shortly after birth.

But Janelly fought, and at almost 3 years old, she began a clinical trial at Monroe Carell Jr. Children’s Hospital at Vanderbuilt in Tennessee. Now, four years later, Janelly can dance.

Janelly was one of 11 children in the world to participate in the trial – and by far the smallest. Her disease made it so she could not move her body, and her bones didn’t show up on X-rays. When hugged, she grimaced in pain.

The trial was to test a new biologic enzyme called asfotase alfa. Janelly’s parents said they started to notice a change; gradually she began gaining muscle control, but her bones still didn’t grow.

However, the enzyme was sticking, and a year after she started treatment, Janelly was able to move her limbs. Then after 18 months of treatment, doctors started to see her ribs forming.

Today, Janelly uses a baby walker to get around, but she is able to sit up and roll around. Within the walker, she’s able to dance, “interpreting the music with hand movements,” according to the Tennessean. Although she’s nearly 7 years old, she’s still the size of a toddler. Her bones are slowly growing.

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