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 […]
