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dwarfism

For the White family, life has been full of unexpected challenges—but also extraordinary resilience and hope. Three of Seth and Hannah’s children, Samuel, Selah, and Stephen, were all diagnosed with Ellis-Van Creveld Syndrome (EVC), a type of skeletal dysplasia that restricts cartilage and bone growth and is often accompanied by congenital heart defects. Their journey, which began with the birth of their first son, Samuel, has led them across the country to Nemours Children’s Hospital, Delaware, where they found the care they needed for their children’s complex condition. The family’s story begins in Arkansas, where Samuel, now 6, was born. Hannah remembers the uncertainty surrounding Samuel’s diagnosis. “At our 20-week ultrasound, we learned that Samuel had some complex medical concerns, but even after a lot of testing, they weren’t sure of his exact diagnoses,” she said. It wasn’t until after Samuel’s birth that the family learned he had EVC, along […]

In 2019, while pregnant with my second son, we learned that he would be born with dwarfism. Though both my husband and I are on the short side of average height, we did not have a lot of experience with dwarfism and were unsure of how that would impact our son’s quality of life. We did what all parents would do and learned as much as we could about dwarfism and connected with other families. In June of 2019, Lincoln was born 12 weeks early due to other pregnancy complications. His dwarfism diagnosis became an afterthought, and the focus became getting him to eat and breathe on his own as we struggled through an extended NICU stay. After being released from the NICU, Lincoln was followed by a local pediatrician and medical team, but after having a short-term episode of paralysis at 2 years old, they referred us to Nemours […]

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 […]

From the very beginning, Sophia’s life has been intertwined with achondroplasia dwarfism. Diagnosed at birth, she started her medical journey under the care of Dr. William Mackenzie and Colleen Ditro, two dedicated clinicians at Nemours Children’s Hospital, Delaware who have been by her side since day one. Born and raised in Colorado, Sophia was introduced to Nemours Children’s through LPA (Little People of America). Here, she first met Dr. Mackenzie and Colleen and they have followed her since birth, connecting yearly at LPA conventions. As she grew older, Sophia continually defied expectations, becoming a professional athlete and earning medals in two Paralympic games as an elite swimmer. When she retired from professional sports and began exploring new avenues, Sophia took up running. However, she began to encounter some hip issues along the way. This led her to seek medical advice from Colleen who recommended Sophia come to Delaware and see Dr. […]

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 […]