DENVER A baby broken, inside the womb.
Most doctors gave little unborn Payton Calvillo any hope she would survive. But through strong faith and the help of a team of medical experts, she is thriving today.
"She's a complete miracle baby," said Payton's mother, Ahna Calvillo.
When Ahna was just five months pregnant, she was told her unborn baby would probably not survive birth.
"It was pretty much a death sentence from the beginning."
Payton's bones were breaking and bending inside the womb.
"She likely had a problem where she couldn't make alkaline phosphatase properly," explained Dr. Sunil Nayak, a pediatric endocrinologist at Rocky Mountain Hospital for Children.
Alkaline phosphatase is needed for bones to grow and strengthen and there was little anyone could do.
Nineteen different specialists were on hand for the C-section delivery
"They even asked us the question that morning, how far do you want us to go?" Ahna remembered. "'Do you want a ventilator on her?', you know, 'How far do you want us to prolong her life?' Our ultimate hope and goal was that she would come out and breathe on her own."
"She just came out screaming," said Ahna. "She came out crying. She breathed on her own right away. She was perfect."
Payton was diagnosed with hypophosphatasia, a disorder that weakens bones and was immediately placed on a new FDA-approved medicine.
"Here we are just one year later at one year of age and you see a dramatic difference in the shape," said Dr. Jared Riley, a pediatric orthopedic surgeon at Rocky Mountain Hospital.
Before the medicine, 75% of all patients died by the age of five.
Now there is a 97% chance Payton will live a normal life.
"My baby was broken and that's what I needed God to do was a miracle," said Ahna.
One was also treated with bone fragments and cultured osteoblasts, which are bone-forming cells.
"Cultured" refers to cells that are grown under specific conditions outside of the natural environment (the body) and within a laboratory.
Both patients showed significant, but incomplete improvement, although no more formal studies have been conducted.
Then, the drug teriparatide (parathyroid hormone 1-34) has been given "off-label" to several adults with HPP with metatarsal stress fractures or femoral pseudo fractures, resulting in healing.
The drug is not permitted for use in children.
More research is necessary to determine the long-term safety and effectiveness of teriparatide in the treatment of HPP.
Every year eight million babies are born with genetic disorders passed down from generation to generation.
Payton will stay on the new medication for the next few years and then doctors will re-evaluate whether she needs to continue.
Payton's family didn't even know they carried the problematic HPP gene until an ultrasound revealed it in their unborn baby.
After being genetically tested, Payton's mother and grandfather are positive.
Neither one has ever suffered from weak or broken bones.
If this story has impacted your life or prompted you or someone you know to seek or change treatments, please let us know by contacting Jim Mertens firstname.lastname@example.org Marjorie Bekaert Thomas email@example.com.
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