Omaha, Nebraska, USA, since her mother’s womb as young as 20 weeks, ultrasound showed the fetus Evie Elsaesser has a very fragile bones. Doctors even thought he had a rare bone disorder and can not survive long after birth.

Evie Elsaesser has a rare bone condition called hypophosphatasia, the metabolic conditions that prevent minerals such as calcium and phosphorus stored in the bones properly.

“They thought he would die of respiratory failure due to his bones are so weak,” said his mother Lindsey Elsaesser (28 years), as reported by MyHealthNewsDaily.

When it was born in September 2009, doctors said Evie is transparent to the bone X-rays, yet strong enough to support his lungs. But two weeks later Evie started having seizures and genetic testing revealed that he suffered from hypophosphatasia.

For babies like Evie, this hypophosphatasia disease can be life threatening and he could die before the age of 1 year.
At that time, no approved medical treatment for hypophosphatasia. But Evie’s life can finally be saved thanks to a new experimental therapy.

When she was 2 months, Evie was given a drug called alpha asfotase, an engineered protein designed to replace the enzyme that does not work properly in patients with hypophosphatasia.

“Evie is now 2 years old and he was able to stand and walk with a walker. May 2011, he was not using respiratory support, which he has used for 17 months. Without treatment, the bones will continue to be damaged, until it is can breathe, “said Elsaesser, who lives in Omaha, Nebraska, USA.

Evie is part of a clinical trial of alpha asfotase, whose results were published on March 8 at the New England Journal of Medicine.