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Patient Stories

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 […]

Erica and Antoine Shoemate vividly remember the moment they discovered Erica was pregnant with Nia. It was February 2017, and despite a recent visit to a fertility specialist confirming she wasn’t expecting, she received the surprising news. “I was very shocked, confused, surprised,” Erica shares. This was just the beginning of a remarkable journey filled with challenges and triumphs. Nia’s journey took an unexpected turn during a routine 20-week anatomy scan when she was measuring behind. Initially, doctors thought it might be due to Erica’s petite stature, but a visit to a maternal-fetal medicine specialist revealed a different story. Nia was initially misdiagnosed with short rib polydactyly syndrome, and Erica was advised to terminate the pregnancy. “At this point, I felt like I had to get out of that hospital’s doctor’s office. I felt the walls were closing in on me,” Erica says. After receiving the diagnosis, Erica and Antoine […]

16-year-old Alyson was living her dream of competing in horse shows with her beloved horse, Epsilon. That all changed in May 2024, when one routine jump ended in a painful fall. Alyson landed hard on her right leg, and in an instant, she knew something was wrong. “Immediately I was in a lot of pain,” Alyson recalls. “The EMT helped me out of the ring, but I couldn’t walk any further. My mom took me to the closest hospital where they told me I fractured my leg and may need surgery. I was so disappointed and discouraged because I was not going to be able to ride or compete for a long time.” For Alyson, an injury that would require surgery and months away from riding was a devastating blow. Referred by her initial doctor, Alyson’s journey led her to Nemours Children’s Hospital, Florida, and into the care of Dr. […]

At just 7 years old, Aryia has already shown remarkable strength and resilience on her journey with cerebral palsy. Diagnosed at 10 months, Aryia has faced her challenges head-on with the help of her dedicated family and the orthopedic team at Nemours Children’s Hospital, Florida. It all started when Nina, Aryia’s mother, noticed something unusual after bringing her newborn daughter home. “Her legs would jerk constantly,” Nina recalls. But due to Aryia’s premature birth, doctors were hesitant to give a diagnosis right away. After a few months of evaluations, Aryia was officially diagnosed with cerebral palsy in September 2017. Before moving to Florida, Aryia’s family faced an overwhelming and complicated care plan while living in New York City. They frequently traveled between specialists, even going as far as Philadelphia for medical appointments. “Aryia’s muscle spasms caused her to cross her legs excessively, preventing her from standing or walking. We were […]

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 […]

Meaghan remembers the early days of her daughter Addison’s life vividly. Diagnosed with a cleft palate just days after birth, Addison’s journey began with a challenge. “She was having a very difficult time breastfeeding and just didn’t seem interested in eating,” recalls Meaghan. Suspecting a possible lip tie, she asked a nurse to check Addison’s mouth. Instead, the nurse discovered a cleft palate. From that moment, Meaghan began the process of feeding Addison using a bottle with a valve. The cleft palate diagnosis impacted the Addison’s family’s daily routine significantly. With a 3-year-old son already keeping them busy, adjusting to Addison’s needs meant slowing down their usually fast-paced days. “In the very beginning, it would take about 45 minutes to an hour for one feeding,” says Meaghan. “With Addison struggling to eat, we had to take each day at a time.” However, with perseverance and patience, Addison began to improve […]