A little girl born with no bones has amazed doctors – by learning to dance.
Janelly Martinez-Amador has a rare condition called hypophosphatasia, a genetic disorder that affects the development of bone and teeth.
It can cause a loss of all bone mineralization. The condition occurs due to an enzyme deficiency, which causes the bones to become soft as they can't absorb important minerals such as calcium and phosphorus, increasing the risks for pain and bone deterioration.
Janelly, now six, was four months old when it was discovered she had the condition after her parents, Salvador Martinez and Janet Amador, took her to the doctors because she seemed to be in pain when they held her.
They were stunned to learn her body was unable to make bone. But now Janelly is growing - and has even learned how to dance.
Salvador, from Antioch, Tennessee, told the local newspaper: "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."
She was unable to move any of her body, and her bones didn't even show up on X-rays.
By the time she turned two, she was still relying on ventilators and tracheotomies as she did not have ribs to support her breathing - and her parents were uncertain how much longer she would survive.
But when she turned two years and eight months old, her parents put her forward for a clinical trial involving an experimental medicine at Monroe Carell Jr. Children's Hospital at Vanderbilt.
The clinical study treated nine toddlers from across the world with a biologic enzyme called asfotase alfa, which encouraged bones to grow. A special port was inserted into her abdomen so she could receive the drug.
After a while, Janelly's parents started noticing she was gaining muscle control and, after a year of treatment, she was finally able to move all of her limbs.
After 18 months, her ribs started to form. Now, four years since the start of her treatment, she no longer uses a ventilator and loves dancing and bops along to music in her stroller.
She uses a wheelchair and she is still the size of a child half her age, but her bones are growing and doctors are hopeful. They hope to be able to remove her tracheotomy tube this spring, which has prevented her from speaking. Her cognitive abilities will be tested in July - but she appears to be improving each day.
"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, a pediatric endocrinologist at Vanderbilt, told Newswise.
"My goodness, to go from no bones to bones. That's the most impressive thing I have seen as a physician. It's incredible."
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