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Patient Janelly Martinez-Amador is a 6-year-old patient with an extremely rare bone disorder which leads to loss of all bone mineralization during infancy. She was expected to die as a toddler and spent a large part of the first couple of years of her life in our PICU. She was mechanically ventilated and fed by a gastric tube. When she was 3 years old, we started her on a medication that had just begun a clinical trial. She is one of 9 children worldwide who has been in this study for the past 2 years. She now has bones, is off her ventilator and breathing regular air, is sitting up, and is starting to eat regular food. The results of this trial have been published in the New England Journal, and this has truly been a life-saver for the children in this study. Michael Whyte is the MD who was instrumental in this study and who is the worlds expert in this disease is coming to Vanderbilt on April 3 to give a series of talks. He has asked to meet with this family, and we have arranged for this.
(Vanderbilt Photo / Daniel Dubois)
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