ARTICLES RELATED TO:
Patient Stories

For Carly, the journey to a Morquio Type A diagnosis began with uncertainty. As a young child, there were signs that something wasn’t quite right, and her parents embarked on a quest for answers. After a lot of testing and a few misdiagnoses, it wasn’t until Carly was around a year and a half old that a local doctor stumbled upon a small paragraph in a textbook about Morquio Type A, setting the stage for a lifelong medical journey. When her physician, Dr. Kopis from St. Jose Hospital, could no longer practice, Carly’s journey led her to the care of Dr. William Mackenzie at Nemours Children’s Hospital, Delaware. With expertise in skeletal dysplasia, Nemours Children’s was the perfect fit for Carly, offering specialized care tailored to her needs. “From the beginning, my parents loved the care I received at Nemours,” says Carly. “My mom immediately transitioned all of my doctors to […]

Laura, Jess, Ginny, and Jasmine are remarkable mothers whose paths crossed through their children’s diagnoses. Through shared experiences and care teams, this group of women have formed lasting friendships. Their children, Charlette, Noah, Gino, and Jeremiah, share the diagnosis of osteogenesis imperfecta (OI) and receive compassionate care from the exceptional team at Nemours Children’s Hospital, Delaware. Under the guidance of dedicated clinicians such as Dr. Ricki Carroll, Dr. Jeanne Franzone, Tina McGreal, APRN, Licensed Genetic Counselor Andrea Schelhaas, Sarah Little, PA-C, Katie Harp, LCSW, and many more, these children are thriving in a nurturing environment full of hope. United by a common journey, Laura, Jess, Ginny, and Jasmine were introduced to each other via an online group for parents of children with OI. Through these Facebook groups dedicated to OI, they discovered a community where fears were conquered, victories celebrated, and wisdom exchanged. Laura recalls the moment when she first […]

In the world of healthcare, finding a place that feels like home can be a challenge. For Amanda, mother of 4-year-old Mackenzie, that home is Nemours Children’s Hospital, Delaware. Mackenzie’s journey with osteogenesis imperfecta (OI) began even before she took her first breath. At just 25 weeks, Amanda learned of her daughter’s diagnosis. “I went for a routine anatomy scan while pregnant. Significant bowing in Mackenzie’s legs and long limb measurements indicated that she would need more testing. I received an amnio and was sent to another hospital where she was diagnosed,” Amanda recalls. Transitioning Mackenzie’s care to Nemours Children’s was a pivotal moment for their family. They discovered the facility after finding recommendations on social media. “We are part of a group on Facebook for parents of children with OI,” says Amanda. “I was asking questions when Mackenzie broke her arm at 10 days old and someone recommended we […]

“At the 20-week ultrasound, I learned about his skeletal dysplasia,” Brittany recalls. “And at the 33-week Vistara blood test, I learned about his OI diagnosis.” These moments marked the beginning of Cruz’s journey, but they also sparked Brittany’s search for the best care possible for her son. It was during her 35th week of pregnancy that Brittany discovered the Advanced Delivery Program (ADP) at Nemours Children’s Hospital, Delaware, thanks to a recommendation on the Osteogenesis Imperfecta Community Facebook page. “Their care, communication, and knowledge gave us extreme confidence in the ADP Team,” says Brittany. “They had a plan, relayed it to us, listened to our concerns, and had experience delivering OI babies.” The support Brittany received from the medical staff at Nemours Children’s during the delivery process was nothing short of extraordinary. “They showed compassion during every step,” Brittany emphasizes. “They helped keep me calm by talking about my 2-year-old […]

In the world of sports, injuries are often seen as setbacks, hurdles that athletes must overcome to get back to doing what they love. For Jarnum, a 15-year-old elite soccer player, a left knee lateral meniscus tear threatened to impact his game. Jarnum is the youngest player in a semi-professional USL2 academy league for Swan City Soccer Club in Lakeland. He holds the distinction of being the youngest player ever to score a goal in the USL2, helping his team secure their sole victory of the season. Unfortunately, it was during his time with this team that Jarnum sustained his injury. While engaged in a defensive play, he collided with another player, resulting in the tear to his left knee. Jarnum’s mother, Authrine, recalls the moment when their journey with Nemours began. “Dr. Julia Fink could tell that it was a meniscus tear right away,” she says. “But she wanted […]

From a young age, Axel’s family had noticed the unusual appearance of his chest. They took him to see a few different providers, but they were told that his chest was not responsible for his symptoms, and it was only a cosmetic defect. It wasn’t until Axel needed a checkup and couldn’t get into his regular pediatrician that his mom searched for another pediatrician. At that appointment, Axel asked his mom once again to mention his chest, and although hesitant due to their past experiences, she brought it up. This pediatrician immediately noticed that something was wrong and referred them to Dr. Kellianne Kleeman, a pediatric cardiothoracic surgeon at Nemours Children’s Hospital, Florida. Dr. Kleeman mapped out a detailed care plan that included a minimally invasive surgery to repair his pectus excavatum. Axel says, “When Dr. Kleeman showed us the picture in clinic—that was the first time I saw my […]