Baby Born Without Bones Is Given a Second Chance at Life (and Dancing!)
Every parent’s biggest fear is that her child will have health issues when he or she is born. In the case of Janet Amador and Salvador Martinez of Antioch, Tennessee, everything seemed fine with baby Janelly Martinez-Amador until she was 4 months old.
"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," Salvador said with the help of a Spanish interpreter. Their hugs also seemed to be causing her pain. That’s when she was diagnosed with the most severe form of hypophosphatasia, which is a “genetic disorder that prevents skeletal mineralization.” Because she was born without bones and didn’t have the ribs to support her breathing, the parents had to decide whether to continue with life-sustaining interventions.
Fortunately, when she was 2 years and 8 months, Janelly was enlisted in a clinical trial involving the use of a new biologic enzyme at Monroe Carrel Jr. Children’s Hospital at Vanderbilt in Nashville. It ultimately became the place where Janelly was given a second chance at life.
While the doctors were skeptical at first and didn’t think the treatment was working, her parents noticed the improvement before the medical staff. Janelly had a special port surgically inserted into her abdomen in order to receive infusions of the bone-targeting enzyme. While others in the treatment had “striking” skeletal healing by six months, Janelly did not. The doctors feared her case might be too serious, but Janelly’s parents began to notice her gain more muscle control.
As USA Today put it, “Although no one could see it, the enzyme was sticking like snowflakes falling in darkness.”
After 18 months of treatment, doctors could see ribs forming. It was within weeks of that discovery that her pulmonologist started to also notice major improvements, and was able to back her off on a ventilator. As Dr. Jill H. Simmons, a pediatric endocrinologist at Vanderbilt children's hospital, said, “It was fascinating how the calcification of those ribs really significantly turned her around.”
Although Janelly is almost 7, she’s still the size of a toddler. That doesn’t keep her from dancing, however. As the article notes, “She dances as gracefully as any ballerina, interpreting the music with hand movements, from her stroller.”
Janelly’s bones have just begun to grow, so the future remains uncertain. And the long-term effect on her ability to learn from the delay in her physical development also remains unseen. For now, she attends Harris-Hillman Special Education School and, while she can’t talk, she makes noises and responds to stimuli around her.
Modern medicine is truly an amazing thing and, after a week of being bombarded by depressing news, it’s wonderful to hear of such progress on the part of this sweet girl!