A little girl who was born without bones due to a rare condition is now able to dance in her stroller after her parents put her through a trial for a new drug.
Janelly Martinez-Amador screamed in pain when her parents tried carrying her or touching her. At four months old, Salvador Martinez and Janet Amador, her parents, wondered why she wasn't developing at a normal pace.
Six years later, Janelly is making improvements, but it her parents were worried she would never pull through.
Her condition is called hypophosphatasia, an extremely rare bone disorder which leads to the loss of bone mineralization during childhood.
"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 said.
"She didn't used to like to be held in my arms," her mother said. "The only thing she liked was to be put up on a pillow. That would make her comfortable."
Janelly couldn't move her body and her bones did not show up on X-rays.
Once she was two years old, she was still relying on ventilators and tracheotomies because her lack of ribs made it impossible for her to breathe.
But eight months after her second birthday, her parents decided to put her in a clinical trial involving an experimental medicine which included a biologic enzyme called asfotase alfa.
At first, she wasn't showing any improvement, and her bones were still not visible in x-ray.
But after awhile, her parents noticed she was gaining muscle control and a year later, she was able to move all her limbs. Finally, after 18 months, her ribs started growing.
Four years later, she is off her ventilator and has a new habit of dancing and bopping in her stroller.
While she is still the size of a child half her age, her bones are continuing to grow.
The doctors hope they can remove her tracheotomy tube in the spring, which has prevented her from speaking.
"This is why we get into medicine in the first place: to truly make a difference in the life of a child," her physician Jill Simmons, M.D., said.
"My goodness, to go from no bones to bones. That's the most impressive thing I have seen as a physician. It's incredible."