When she was 32 weeks pregnant, Sarah and her husband, Joe, learned their son wasn’t growing as he should. This was Sarah’s second pregnancy, and the couple only had a short time to prepare for what came next.
“It changed my whole life,” Sarah recalls. “I was weeks away from a planned C-section and it felt like a rug was pulled out from under me.”
When Paul Joseph (Joey) came into the world in June 2022, everything went well with his delivery. However, doctors diagnosed him with achondroplasia, a rare genetic bone disorder caused when a protein in the body functions abnormally and slows down the growth of bone in the growth plate cartilage. Achondroplasia is the most common form of short-limbed dwarfism.
Joey’s disorder is considered a genetic mutation since the condition doesn’t run in his family. So to ensure he lives a long, healthy life, his parents have worked hard to educate themselves and others about achondroplasia.
His care team at Phoenix Children’s Skeletal Health and Dysplasia Clinic has been essential to that process. Sarah says Joey was able to get into the clinic at 2 ½ months, which has helped him thrive because of early intervention.
“You get all these specialists who help at once,” she says about the clinic. “What they’ve done for us in the eight months of Joey’s life has been life-changing.”
Child Life has also been critical to Joey and his family’s healing journey, especially when he caught RSV (respiratory syncytial virus) and had to be intubated for three months.
“Child Life was a light during dark times for us,” Sarah says. Not only did Child Life specialists help Joey’s big sister understand his diagnosis using the power of play, but they also helped make the hospital a less scary place for the entire family.
Joey will need continual care going forward. He receives physical and occupational therapies once a week, and his doctors check on his health frequently. Sarah says he may need more surgeries in the future on his lungs, spine and limb areas.
But Sarah and Joe have faith in Joey’s care.
“Without Phoenix Children’s, my husband and I would be completely lost,” she says. “It has honestly become a happy place for my son rather than a scary one. We couldn’t be happier.”
Despite the medical challenges he has faced in the short months of his life, Joey is a happy baby who rarely cries, adores his big sister, Bella, and has a sweet smile that melts the hearts of all who meet him.
“He’s an angel,” Sarah says. “There’s no other way to express it. I wouldn’t change anything. Joey’s meant to be here for a very special reason.”
Meet Joey and his family during the 11th annual ABC15 Telethon for Phoenix Children’s on April 12. From 6 a.m. to 10:35 p.m., you will hear impactful stories like his, meet other resilient patients impacted by world-class care at Phoenix Children’s, and learn more about becoming a Hero for Hope.
