And then, Adelyn was born, and she was very unhealthy.
“When she took her first breath, her whole chest cavity collapsed. She was blue in color. Her limbs were going the wrong way. It was really terrifying,” said Adelyn’s father, Joe.
Adelyn’s doctor took X-rays, which came back showing limited bone growth, or, as Joe says, it was “similar to a jigsaw puzzle with all the pieces missing.”
Adelyn’s doctors thought she could have osteogenesis imperfecta, a type of dwarfism, or hypophosphatasia (HPP). After several days involving many tests, including one that indicated her alkaline phosphatase level was zero, they determined that she had HPP, an ultra-rare, genetic, potentially life-threatening metabolic condition that prevents minerals such as calcium and phosphate from being properly deposited in bones.1-4
Joe and Jennie were told that there were no approved or effective treatment options, but that there was a clinical trial involving an investigational enzyme replacement therapy called STRENSIQ® (asfotase alfa).* Joe and Jennie didn’t have to think twice about enrolling Adelyn.
At 12 days old, Adelyn received her first treatment with STRENSIQ. And after a few months of investigational treatment, Adelyn was able to return home.
In October 2015, STRENSIQ received approval by the U.S. Food and Drug Administration. Adelyn transitioned out of the clinical trial and continues to receive STRENSIQ. She recently celebrated her first birthday and dazzles everyone with her ever-present smile.
As Joe says, “When I hold Adelyn now, it’s like holding the sun – a ball of warmth. She just looks at you and warms your heart. I think, while I’m looking at her, that, ‘You’re amazing. You’re a miracle. You probably shouldn’t be with us, but here you sit, smiling hugely at me and making my life better each day.’”
*The results from use of STRENSIQ may vary.