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DENVER (CBS4) A one-year-old girl is growing stronger after being diagnosed a rare genetic condition. Payton Calvillo was diagnosed with Hypophosphatasia, which can cause bones and teeth to be extremely weak. Her family was told before she was even born she likely wouldnt survive.

My boys had been asking for a baby sister for a long time, laughed Ahna Calvillo, Paytons mom. They were sure she was a girl.

When Ahna was pregnant with their third child, she and her husband Riley went to an ultrasound appointment, to find out their babys sex. They were told they were having a little girl, but things didnt look good.

She just was like, These babys bones, they are bent and they are fractured in some places, Ahna said, tearing up. We just had two healthy boys and that was the last thing I expected. Was there something to be wrong with our baby girl?

Ahna said they immediately saw a specialist to learn more about the babys condition. However, it was so rare, doctors had a tough time diagnosing what was wrong.

Along the journey there were a lot of different diagnoses because they really didnt know what we were dealing with, Ahna said.

Staff with Rocky Mountain Hospital for Children in Denver began to help the Calvillo family. Cathy Brunson is a genetic counselor at the hospital, and said this condition usually impacts adults or older children.

Its a condition that can affect definitely bones but also the teeth, Brunson said. This was the first time I had seen it prenatally, especially to this degree.

Based on studies around the world, often babies like Payton require significant support upon delivery and some children can experience additional skeletal malformations, breathing difficulty and diminished muscle tone.

Doctors told the Calvillo family, because the babys bones were so weak, she likely wouldnt make it through birth. Ahna said, they decided to continue to pregnancy and keep their faith.

We werent going to give up on Payton. Payton hadnt given up at that point and we werent going to give up on her, Ahna told CBS4s Makenzie OKeefe. We just started praying.

After weeks of ultrasounds, at 39 weeks Ahna had a C-section to bring Payton into the world. She said if she heard her little girl cry, she knew she made it through birth without her chest collapsing.

She started crying and only had some rib fractures but no broken bones, Ahna said. She was, she was a miracle.

When Payton was born, x-rays show her bones were extremely bowed. She began treatment when she was just 6 days old and at a 6-week follow-up with an orthopedic specialists at Rocky Mountain Hospital for Children, they found no new fractures and improvement in her bowing legs.

At 12 months of age, baby Payton is weight bearing and her development milestones are on track.

The tricky part now is she has this condition and now what are we going to do for her, for the rest of her life, Brunson said.

Ahna and Riley say, seeing Payton grow up and get stronger has been a joy.

Ive been so excited to see her do all the things, to crawl and to walk, Ahna said. And shes not a low-key baby. She loves to keep up with her brothers.

The Calvillo family said it was a tough road, but seeing all the families facing tough diagnoses at the hospital too, was heartbreaking. They hope their story of not giving up when they were told she wouldnt make it early on, gives others hope.

We just want to bring encouragement, Ahna said. Shes a miracle, and shes a joy.

Ahna was also recently diagnosed with the same genetic condition, and is waiting to be enrolled in a clinical trial to receive the same medication as her baby.

More:
We Werent Going To Give Up: Family Celebrates Progress Of 1-Year-Old With Rare Genetic Disorder - CBS Denver

This entry was posted on June 13, 2020 at 12:45 pm and is filed under Genetics. You can follow any responses to this entry through the RSS 2.0 feed. Both comments and pings are currently closed. |