The day Maddie was born, doctors performed an X-ray to investigate fluid in her lungs. During this X-ray, they discovered signs of Rhizomelic Chondrodysplasia Punctata (RCDP). This rare condition, which affects bone growth and can lead to orthopedic and developmental challenges, was confirmed a few weeks later through bloodwork. With the help of Nemours Children’s Hospital, Delaware pediatric specialists and cutting-edge research, Maddie and her family have found a community that understands and supports them.
“We were introduced to Nemours Children’s in 2017 by RhizoKids International,” shares Maddie’s mom, Jenna. “Through this partnership, we connected with the Nemours team and specialists focused on RCDP. This led to our involvement in the development of the RCDP Natural History Study, an important step in preparing for clinical trials of synthetic plasmalogen.”
Maddie and her family have been actively involved in the RCDP Natural History Study conducted at Nemours, attending visits every six months. “The care team involved in the study has been an invaluable part of our journey, providing knowledge and support,” shares Jenna. “However, the guidance and expertise of the Nemours team and Candace Muss, PA have been truly instrumental in shaping Maddie’s care team back home in Ohio. Their collaboration with our team has helped us navigate treatment for seizures, growth and development, and other medical and equipment needs with confidence.”
From the moment Maddie’s family stepped through the doors, their experience at Nemours Children’s was unlike any other. “The Nemours team is remarkable—so welcoming, compassionate, and dedicated,” shares Jenna. “Their kindness and expertise create an environment where families feel truly supported, making each visit a reassuring and positive experience.”
Looking ahead, Maddie’s future with RCDP will continue to be navigated at Nemours with the ongoing care and guidance her family has come to rely on. “If distance weren’t a factor, we wouldn’t hesitate to transfer all of Maddie’s specialist care to Nemours,” says Jenna. “The level of expertise and dedication from their team is unmatched. As long as Maddie is able, we will continue visiting Nemours every six months to participate in the RCDP Natural History Study, ensuring she receives the best care and contributes to vital research.” Through this experience, one of the most valuable insights Maddie and her family has gained is the importance of connecting with specialized facilities like Nemours Children’s. “We often say how much we wish there were a facility like Nemours closer to home,” says Jenna. “When we visit, it’s comforting to see other families navigating skeletal dysplasia, and it reminds us that we are not alone. The providers at Nemours are true experts in these conditions, offering second opinions and invaluable guidance that complement the care we receive locally. If you have the opportunity to connect with them, it can truly make a difference.”
