Toddler born with rare bone disease defies odds & survives
Four years ago, Evie Elsaesser's parents thought they would only get a few minutes to spend with their second child after she was born. Doctors told the parents that Evie had a bone disease and that her bones would not be able to support her lungs and she would have respiratory failure. Well, Evie survived more than the first few minutes of birth. Somehow her very fragile bones were able to support her lungs, but a couple of weeks into life, Evie started having seizures. Her prognosis, again, was not good. But don't worry, it's four years later and the story I have to tell you is a good one.
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Because of the seizures, Dr. Richard Lutz, a pediatrics professor at the University of Nebraska Medical Center, was able to diagnose Evie with hypophosphatasia (HPP), a hereditary bone disease that kept Evie's skeleton from forming properly in the womb. Children with HPP and seizures like Evie was having are not expected to live past a year and yet Evie is not only alive, she's thriving, although with some physical limitations.
What happened in Evie's case is a miracle of science. She was able to enroll in a clinical trial that would deliver a missing enzyme to her bones and help make them less fragile. And the treatment is working! Evie goes to preschool three times a week now. She's smaller than her classmates and wears ankle braces, but she is alive, she's moving, which considering her condition at birth is amazing.
This story makes me so very happy. May Evie continue to grow and thrive. I hope this treatment is able to help others as well.
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