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 sought a second opinion and opted for in depth genetic testing as well. The results revealed that Nia had Ellis-van Creveld (EVC) syndrome, a rare condition with fewer than 300 reported cases worldwide. Children with EVC often have ectodermal involvement and chondrodysplasia.
The Shoemate’s decision to continue the pregnancy, despite the advice to terminate, was influenced by a combination of faith, intuition, and hope. After feeling pressured by her local doctor to end the pregnancy, Erica was determined to explore all options. She actually made the appointment to terminate, as that seemed the only viable option. However, approximately 24 hours before the procedure, she cancelled. The pivotal moment came her husband shared a dream he had about Erica still being pregnant. ” Antoine had a dream that I was wobbling and still pregnant, and that’s what we leaned into,” says Erica. “We decided to move forward with Nia’s birth.”
Nia was born on September 27, 2017, and defied expectations from the start. Erica’s local medical team advised them to prepare for the possibility that Nia might not survive. “They thought she was going be limp and blue,” shares Erica. “We were told to hope for the best, but expect the worst, and that we would likely only get a few hours with her before she passes away.” The couple went to great lengths to prepare for this heartbreaking possibility. They had a memorial gown ready, contacted a funeral home, and arranged for a nonprofit photography service that supports families who are facing the loss of a baby.
Despite these preparations, “Nia came out screaming, which was not expected,” says Erica. “The entire operating room was like, wait, what just happened here?” This miraculous moment marked the beginning of Nia’s extraordinary journey and the family’s unwavering faith in her strength. While her family experienced initial relief, Nia faced significant challenges, including coding twice in one day. This critical moment prompted Erica to reach out to Dr. Devyani Chowdhury at Nemours Children’s Hospital, Delaware, who urged them to transfer Nia for the specialized care she needed.
“When speaking with Nemours, they had already created a whole flow chart on what to do if a baby with EVC has this or that. To see the flow chart, the organization, and the knowledge, I just couldn’t believe it, it was such a blessing,” Erica shares. “Having the conversation with the doctors and knowing that all the things were already in place, we were sure in our decision.” The support from Nemours Children’s social worker Shannon Davis also played a crucial role. “Shannon helped us with so much, more than the help we had ever received prior,” Erica adds.
The difference in care was evident immediately after transferring to Nemours. “My baby looked like a completely different baby 48 hours after transfer,” Erica says. Nia’s condition improved rapidly under the expert care of the Nemours team. From NICU graduation to undergoing open-heart surgery due to her congenital heart defect, every step of Nia’s journey was supported by a team of dedicated professionals who listened and communicated effectively. During this journey,
Erica highlights the importance of interdisciplinary care at Nemours, which contrasts with the multidisciplinary care found elsewhere. “Nemours is truly a gold standard. A lot of other hospitals might brag that they have interdisciplinary care, but what they have is multidisciplinary care. At Nemours, when you have a complex child or complex baby, there are meetings happening to determine what is the best plan of action. And I think part of that is because Nemours doctors are mostly in house, that really changes the game when we talk about family centered care.” Erica explains. This integrated approach ensures that all aspects of Nia’s care are coordinated seamlessly, providing the best possible outcomes.
Working with Dr. Stuart Mackenzie and the skeletal dysplasia team has been a cornerstone of Nia’s ongoing care. Initially, Nia was seen by Dr. Will Mackenzie, whose experience and expertise provided a strong foundation for her treatment. As Dr. Will Mackenzie began his transition to retirement, Dr. Stuart Mackenzie continued the high standard of care provided by the Nemours Orthopedics Department. Erica and Antoine were impressed by their seamless collaboration and proactive approach. The team’s thorough understanding of Nia’s unique presentation of EVC meant that her care was always tailored to her specific needs. This personalized care has enabled Nia to participate in activities like gymnastics, with careful considerations to ensure her safety. “The orthopedics team listens and communicates with each other and with us, which makes all the difference,” says Erica.
In addition to the Nemours orthopedics team, Nia also sees cardiologist Dr. Chowdhury, cardiothoracic surgeon Dr. Christian Pizarro, pulmonologist Dr. Aaron Chidekel, otolaryngologist, Dr. Patrick Barth and while in the NICU a dedicated team of physical therapists, occupational therapists, and many more to address her unique needs. This interdisciplinary approach means that every aspect of Nia’s health is monitored and addressed, making the experience simpler for the family.
Today, Nia is 7 years old and thriving. She continues to receive occupational therapy, including specialized handwriting support, and is closely monitored for her heart condition. Erica expresses immense gratitude for the comprehensive and compassionate care at Nemours.
Nia’s journey has also inspired Erica to become a maternal health strategist, advocate, and ambassador for the March of Dimes. She shares her story to raise awareness and educate others about rare diseases and the importance of compassionate care. “I use my story to share why it is important to give factual information and do it in a way where the family feels supported and can make really informed decisions with the right level of care and compassion.”
“I believe that Nia’s future and her independence are so bright,” says Erica. The unwavering support from Nemours continues to provide Erica and her family with the confidence and reassurance they need. “We know when we come to Nemours, we never feel like the runaway train conductors, we can relax and feel seen and heard. Everyone at Nemours knows what to do and all the teams are on the same page. I’m just incredibly grateful for the work that Nemours does.”
Erica would also like to acknowledge Nia’s father for his unwavering support throughout their journey. Antoine played an instrumental role in ensuring Nia received the care she needed, especially during her most fragile early years. He drove back and forth from their home in the DMV area to Nemours for countless appointments and surgeries, ensuring Nia was always where she needed to be. His dedication behind the scenes ensured Nia had the best possible care and attention, while both Erica and Nia navigated the emotional and physical challenges throughout.
The Shoemate’s journey with their daughter Nia highlights the dedication and expertise of the team at Nemours Children’s Health. Their commitment to providing personalized, integrated care has made a profound impact on Nia’s life and offers hope to countless other families.
