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 two months. So, we fed Elias a bottle during sleep or naps for 10 months. Our lives revolved around trying new bottles, formulas, medicines, and positions and meeting with our feeding therapist. We had to stay home or go home to put him to sleep to get his feed in. We had no social life & were always worried if Elias was being fed enough. We were also preparing to have spinal surgery done at our local children’s hospital. It was just the beginning of discovering Elias’s differences. When we received the RCDP diagnosis before we met our team at Nemours, we were terrified. It felt like a death sentence. We weren’t sure how much time we would have with Elias.”
Soon after receiving Elias’ diagnosis, their local children’s hospital referred Brittany and John to Nemours Children’s Hospital, Delaware. “They immediately told us about Nemours and how they specialize in the condition and have a natural history research study going,” say Elias’ parents. The family contacted Candace Muss, a physician’s assistant and RCDP study coordinator, and Andrea Schelhaas, skeletal dysplasia genetic counselor. The family met with Candace and Andrea virtually to learn more about Elias’s diagnosis and health concerns that can arise. “They asked us when we were interested in coming to Delaware, and we initially suggested it be after Elias’s spinal surgery. Andrea asked if we would mind sharing Elias’s imaging with the team for a second opinion.
Elias’s parents sent his MRI over to Andrea and Dr. Jeffrey Campbell, the neurosurgeon from the skeletal dysplasia team, who then held a virtual consultation with them. During this session, Dr. Campbell explained that Elias’s cervical stenosis was more severe than initially assessed. He recommended a decompression of Elias’s cervical spine and provided a thorough explanation of the surgical plan. “Dr. Campbell made a complicated surgery understandable and less threatening,” share Brittany and John. “He explained all its risks and benefits before Elias was officially a patient at Nemours! Dr. Campbell also contacted our local team and neurosurgeon to help in any way possible. Ultimately, we decided traveling to Nemours was our best option.”
What stood out for Brittany and John was the unwavering support and compassion they received from every member of the Nemours team. “We were always treated with kindness, understanding, and care at Nemours for Elias’s surgery and the research study,” share his parents. “Everyone wanted to ensure we were on board with each decision. They put us, Elias’s parents, in the center of each decision and equipped us with details and knowledge. Nemours is the best hospital we’ve ever been to, and they made our three weeks there more than bearable.”
Elias underwent spinal surgery and g-tube placement simultaneously, guided by Dr. Campbell and Dr. Kirk Reichard’s expertise. Weekly email check-ins with Andrea and Dr. Ricki Carroll keep track of Elias’s growth and weight gain, making the transition back to Tennessee a smooth process. Additionally, skeletal dysplasia orthopedic nurse practitioner Colleen Ditro, along with Dr. Campbell’s team, have served as invaluable resources for Elias’s local therapy teams. “The support systems between Nemours and our local team have made Elias’s recovery a breeze,” share his parents. “Also, Elias having his g-tube has changed our lives in so many ways. We don’t have to worry about lung complications from aspiration; we travel and visit friends, and Elias is happier! We’re all less stressed!”
Looking ahead, Brittany and John plan to continue Elias’s journey at Nemours, participating in ongoing check-ups, research, and potential future clinical trials. Their optimism is fueled by Nemours’ collaboration with MedLife to develop potential treatments for individuals with RCDP. “It will hopefully help with growth and longer life expectancy,” his parents say. “We look forward to participating in the trial and pray Elias responds well to the treatment!”
Reflecting on their journey, Brittany and John offer this advice to others facing similar challenges: “This journey has not been easy, and it does not always make sense… we prayed for God to close doors that are not the best for Elias and open doors that are—which is how we decided to travel to Nemours—the best option presented to us. I would also say—you know your child beyond their diagnosis—love them for who they are and not what they can do. Fight fiercely for what you know they need and find and build the best support team you can (medically and non-medically). Also, specifically for families with an RCDP diagnosis, lean into other families for support. They are a fantastic community with love, knowledge, and support.”
The team at Nemours Children’s Hospital, Delaware is committed to caring for children with RCDP like Elias. Research to better understand and care for individuals with RCDP is ongoing.
