ARTICLES RELATED TO:
Nemours Children’s Health, Delaware Valley

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 […]

When Valerie was 5 years old, Brant and I noticed her energy and endurance greatly decreasing. She was unable to run for more than a minute or even go on a quarter mile walk without needing breaks and getting winded. Her endurance seemed to take a sharp turn for the worse in the summer later that year. She developed abdominal bloating. Her ability to play outside with her brothers or neighborhood friends was becoming increasingly difficult. She also would become overheated easily; she couldn’t be outside in the summer heat for long at all before needing to go back inside to the AC. Her appetite also started to dwindle. All her symptoms reached a level of concern to the point where we needed to investigate a solution with the help of medical professionals. After lab work with the pediatrician to rule out things like diabetes, celiac, and Crohn’s, they performed […]

Follow the inspiring journey of 10-year-old Ashley Garcia, who triumphs over microtia with personalized care at Nemours Children’s Hospital, Delaware.

Meghan’s journey with Bladder Neck Dysfunction unfolded over the course of several years, involving many visits to urologists. It was only when she sought the expertise of Dr. Hagerty, making the journey all the way from Rhode Island to Nemours Children’s Hospital, Delaware, that a diagnosis was finally made. Before treatment at Nemours Children’s, bladder issues had caused many complications throughout Meghan’s life. Pain, discomfort, urinary retention, and bladder spasms were constant obstacles, making it difficult for her to attend school and participate in social activities. Her condition had become a barrier to living her teenage life. However, Nemours proved to be a place of hope for Meghan and her family. The kindness and compassion given by every staff member, from the front desk to the medical professionals, left a lasting impression. So much so that Meghan even suggested relocating to Delaware upon leaving the hospital – a testament to […]

Join Ryan’s inspiring journey through epilepsy and Tuberous Sclerosis Complex, as his mother shares about navigating uncertainties, embracing therapies, and finding strength in the support of Nemours Children’s Hospital.

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 […]