Five-year-old Evie Elsaesser is considered a medical miracle. When she was born, most of her bones were uncalcified and her life expectancy was only a few hours. During her mother's 12th week ultrasound, doctors diagnosed Evie with the fatal condition osteogenesis imperfect because they could not see her legs, arms, and facial bones since they had been so faint during the procedure. Initially, doctors had no idea what her condition was, and her seizures would begin soon after her birth. Further testing will reveal that the level of alkaline phosphatase in her body was dangerously low, leading doctors to diagnose her with the rare genetic condition called HPP or hypophosphatasia.
After the diagnosis, and expecting their daughter to live for only five months, Evie's parents enrolled her into clinical drug trials for the drug, asfotase alfa, that was then being developed by the drug company Enobia Pharmaceuticals in Montreal. Asfotase alfa was a drug that supplemented the missing bone-forming enzyme in Evie's body. Soon after, her bones gradually became visible in X-rays, she learned sign language, and was able to breathe on her own. The most remarkable thing is that, with her new bones, Evie's muscles became stronger and she was soon able to learn how to walk and is now running around in her pre-school playground.
According to Dr. Michael Whyte, a bone research specialist at the Shriner's Hospital for Children who led studies on the asfotase alfa trials, "We've watched babies be rescued from what we thought would be a great likelihood of death. We find that they seem to be perfectly healthy children and the parents seem to be the same." The exceptional results produced with asfotase alfa are what many hope for with every experimental drug that comes into play. They need to change lives and impact health issues in a substantial and definitive manner that gives real solutions to real problems.
