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skeletal dysplasia

Brittany and John found themselves navigating uncharted waters when their son, Elias, was diagnosed with rhizomelic chondrodysplasia punctata (RCDP) type 1. RCDP is a rare skeletal dysplasia that affects the body’s ability to produce plasmalogens which are essential for cell structure and nervous system function. Their journey began with the unexpected—low amniotic fluid during Brittany’s induction with Elias at 37 weeks. What followed were suspicions of cerebral palsy, only to discover skeletal differences and cataracts as well. It wasn’t until Elias was ten months old that the diagnosis of RCDP was confirmed. Before Nemours Children’s Health, life for Brittany and John was a whirlwind of uncertainties and challenges. “Our main struggle before diagnosis & coming Nemours was feeding issues,” share Brittany and John. “First, we didn’t realize Elias had a rare form of dwarfism, so we weren’t sure why he wasn’t gaining weight. Second, he developed a bottle aversion at […]

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 […]

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 […]

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 […]

Tammy noticed her daughter’s size difference from a young age. Summer was consistently smaller than her peers growing up, but her parents and pediatrician never suspected a serious issue. When Summer was about 7 years old, the family took a trip to Disney. Unlike their previous vacations, Tammy and Erik realized that Summer was struggling to keep up. This behavior was concerning because it was not the norm for their bubbly, energetic daughter. Unfortunately, Summer’s limp worsened, she experienced immense stiffness and hip pain, and she struggled to do what she loves most: dance. After an attempt at physical therapy, many x-rays and testing, Summer was diagnosed with Multiple Epiphyseal Dysplasia (MED) in August 2020. MED is a rare genetic disorder that effects the development of the joints in the legs. Her doctors recommended Nemours Children’s Hospital, Delaware to see orthopedic surgeon Dr. Will Mackenzie and orthogeneticist Dr. Mike Bober. […]

As originally posted on “Love What Matters,” written and submitted by mom, Marcella Stanley “‘I’m sorry, but I don’t think he’s going to make it.’ My husband and I sat flabbergasted, the tears instantly streaming while I struggled to breathe. A room filled with nearly a dozen people stared awkwardly at us as we faced every parent’s worst nightmare. This was not how this day was supposed to go. We found out exactly four weeks prior, at our 20-week ultrasound, that our baby boy had a form of dwarfism. The initial concern was that it was a lethal condition, due to the severity of his skeletal abnormalities and how early they presented in the pregnancy. However, my amazing local OB and maternal fetal medicine physicians researched, and after painstakingly detailed ultrasounds, determined our son likely had a non-lethal skeletal dysplasia. His limbs were awfully short, but his chest was average […]