Four years ago, three year-old Janelly Martinez-Amador had the gross motor skills of a newborn and a ventilator kept her alive; now, she can sit in a wheel chair, turn her head, and wave. This may seem nothing to other seven year-olds, but to Janelly and her family, it’s miles away from what her wellness once was.
Janelly has a rare genetic disorder called hypophosphatasia (HPP), a metabolic disease that affects the wellbeing of her bones and teeth. She was born with thin, fragile bones, and by age three, she had no visible bones on X-rays. In HPP, your bones can’t absorb important minerals such as calcium and phosphorus, so they become soft and at risk to pain, breaks and deterioration. Now, a girl who wasn’t expected to survive her first birthday will turn seven this year, thanks to an experimental drug therapy and her care team at the Monroe Carell Jr. Children’s Hospital at Vanderbilt.
Salvadore Martinez, Janelly’s father, explained, ‘Imagine your child laying all the time in bed, not being able to lift herself, not being able to move herself, making sure she is not falling or tripping on things. The treatment has worked very well but it has been a compilation of doctors, nurses, assistants … everyone that has been a part of her care that has helped her make a meaningful recovery.’ Janet Amador, her mother, added, ‘If you saw her in 2009 and see her now, it’s not the same Janelly. She used a ventilator, an oxygen mask – many machines to help her breathe.’
Janelly had the worst case of HPP in a group of 11 children, under the age of three, who participated in a clinical trial to receive an enzyme-replacement drug therapy, asfotase alfa. According to lead investigator Michael Whyte, MD, medical-science director of the Centre for Metabolic Bone Disease and Molecular Research at Shriner Hospitals for Children in St. Louis, ‘For many years, it seemed there was nothing that was very helpful for this disorder. We were fearful that her bone disease was so terribly severe that it might not work. But by looking at the X-rays and hearing about her visits, we were thrilled to hear about her progress.’