ARTICLES RELATED TO:
Orthopedics

Madison’s dysplasia journey began even before she came into the world. During pregnancy, concerns arose as she was smaller than expected. However it was only after her birth, when she was diagnosed with hip dysplasia, that the first signs of something more complex emerged. X-rays at four months old revealed trident acetabulum and an s-shaped scoliosis, so a skeletal dysplasia genetic testing panel followed, identifying changes in B3GALT6. Variants in this gene are associated with a rare skeletal dysplasia known as spondyloepimetaphyseal dysplasia joint laxity type 1 (SEMDJL1). This condition can cause issues like progressive scoliosis, joint laxity/dislocations, and more. When they found out about her diagnosis, Madi’s family faced uncertainties about what her future might look like. However, Madi’s fiery spirit has shone through. She charms everyone she meets with her sassy personality and infectious joy. Madison’s mom, Anna, emphasizes that her daughter has never allowed anything to hinder […]

In celebration of National Women Physicians Day, Nemours Children’s Health highlights Dr. Stephanie Pearce, the Director of Sports Medicine in Orthopedic Surgery & Sports Medicine at Nemours Children’s Health, Jacksonville. Dr. Pearce’s decision to pursue a career in sports orthopedic surgery stemmed from her love for the musculoskeletal system, her enjoyment of working with her hands, and her passion for helping athletes achieve peak performance. For her, sports medicine combines these elements in a way that doesn’t feel like work – it’s a labor of love. Joining Nemours Children’s was a serendipitous journey for Dr. Pearce. Her good friend, Dr. Anna Rambo, informed her of the Director of Sports Medicine opening at Nemours. The opportunity to lead and grow a sports program, contribute to sports research, collaborate with close friends, and return to her home state of Florida made it an offer too good to resist. Working with her team […]

At the age of 13, Zoe received a diagnosis of scoliosis during a routine check-up at her primary care physician’s office. A noticeable hump in her shoulder raised concerns, prompting a referral to Nemours Children’s Health at Lakeland Regional Health. There, X-rays revealed severe scoliosis. The results were sent to Dr. Joseph Khoury‘s office, and an appointment with him was quickly scheduled. Before receiving treatment at Nemours, Zoe’s scoliosis had a great impact on her life. It affected her self-esteem, as the curve in her back and waist made her feel uncomfortable in her own skin. She expressed that her clothes didn’t fit right, and she often experienced discomfort while sleeping. The path to Nemours for Zoe and her family was driven by both trust and research. Zoe’s primary care physician recommended Dr. Khoury, who was known for his successful treatments of scoliosis. Furthermore, a family friend who worked at […]

At Marcella’s 20-week ultrasound, she learned that her unborn child, Brody, had skeletal dysplasia. This news caused a whirlwind of emotions, but little did she know that this journey would lead her to the incredible team at Nemours Children’s Hospital, Delaware, setting them on a path of resilience and discovery. With this news, Marcella dove into gathering information to understand the unique challenges that Brody might face. Although they lived in Wichita, KS, her research led her to the Nemours Children’s Orthopedics team. Brody’s first appointment at Nemours didn’t come until six months, although Marcella was in touch with the skeletal dysplasia team shortly after he was born. She connected with Colleen Ditro, DNP, CPNP who would become an integral part of Brody’s journey. As Brody came into the world, so did a definitive diagnosis of diastrophic dysplasia, a rare genetic condition that causes dwarfism. Their local NICU was ill-equipped to […]

In 2023, Stephanie, a mom and homeschool teacher from Virginia, found herself expecting her fourth child. Little did she know, this journey would lead her family to Nemours Children’s Health, bringing them expert care for her newborn son, Sawyer, who was diagnosed with osteogenesis imperfecta (OI) a condition that affects bone strength. In someone with OI, bones may break (fracture) easily, resulting from minor trauma or no clear cause. Before Sawyer’s arrival, Chris and Stephanie’s life felt complete with their three children: Cassie, Evan, and Eli. While unexpected, the news of a new addition to the family was quickly met with surprise and excitement. The entire family eagerly prepared for their newest member’s arrival. On a whim, Stephanie decided to take advantage of an extra ultrasound through a free service that was offered at her Pregnancy Resource Center. She wanted her other children to be involved and thought this was […]

In the world of competitive dance, every movement is crucial. For Kiara “Katie” Rodriguez, her dance journey took an unexpected turn when, at the age of 15, when she began experiencing hip pain. What felt like a pulled muscle led her to Nemours Children’s Health, Celebration, where she met with her pediatrician, Dr. Janette Magarino. “We all agreed it might be a pulled muscle,” says Katie. “So, we were told to rest and ice the area and take an anti-inflammatory. However, being the type to not complain, I would just dance through the pain.” As a dedicated dancer, Katie spends five hours a day, six days a week perfecting her craft. As she continued to dance, the pain got worse. “When I was home, the pain was unbearable and at times would leave me screaming or crying,” says Katie. “I couldn’t deal with the pain so I often would lose […]