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RCDP

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 […]

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 […]

We found hope at Nemours. This is where we learned how to fight. The doctors at Nemours explained the realities of this difficult diagnosis, but they did it in a way that was also filled with hope. They told us that Jude would write his own story. They taught us how to fight for him, care for him and advocate for him. We drive from Charlotte to Wilmington, Delaware for Jude to receive his medical care at Nemours with the incredible team there.