Six-year-old Janelly Martinez-Amador was born without bones, but she’s showing improvement after treatment with a new drug. When she was a baby she couldn’t move and hugs pained her, but now she’s able to move around and dance.
The NIH states that severe cases of her disease, called hypophosphatsia, occur in 1 in 100,000 newborns, with milder cases being more frequent. Janelly’s case was so severe that her bones weren’t showing up on X-Rays and she couldn’t move her body at all. She had a tracheotomy and had to rely on a ventilator to survive.
“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,” her father told The Tennessean. Her mother lamented “She didn’t used to like to be held in my arms. The only thing she liked was to be put up on a pillow. That would make her comfortable.”
Thankfully Janelly has been able to grow a skeleton after participating in drug study that began February 2009. At 2 years, 8 months, she was technically too young to join the study because of it’s 3-year-old age requirement, but was allowed to join the 10 other patients anyway. The experimental drug is biologic enzyme called asfotase alfa, and the other children in the study started showing results of skeletal growth within weeks and months.
Frustratingly, at first Janelley didn’t seem to be improving. But that may have been because her condition was so severe, it took much longer to see the growth that was actually happening. After a year of treatment, she was able to move her limbs for the first time, and after 18 months she showed signs of forming a rib cage. She’s now about to turn seven, is the size of a toddler, and can’t talk because her tracheotomy tube, but she’s moving around in her stroller, sitting up to watch television, and rolling around on the floor; all things that seem miraculous because of the condition she was in four years ago.
