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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 […]

When Brayden was born, he was premature and was having a hard time gaining weight. His family took him to weekly weight checks with little to no change taking place. After a change of pediatricians, they were told he had a heart murmur. Brayden and his family were referred to Nemours Children’s Hospital, Delaware for further evaluation with the cardiac team. Brayden was diagnosed with dilated cardiomyopathy, requiring the initiation of medication to observe his response. With additional testing, the diagnosis of Barth Syndrome was confirmed. Barth Syndrome is a rare condition that causes an enlarged and weakened heart, weakness in muscles, frequent infections, and more. Due to his inability to gain weight, a G-tube, otherwise known as a  Mickey button, was placed to provide extra calories and nutrition to Brayden which overnight feeds. Brayden received yearly cardiac catheterizations to monitor the function of his heart. In December 2014, when […]

Annika’s path to a cerebral palsy diagnosis began at a young age. Born prematurely at 29 weeks and five days, Annika’s mother, Jessica, noticed subtle differences in her development around six months. When Annika’s twin began reaching certain milestones, such as rolling over, ahead of her, Annika’s family became concerned. “That was my first clue that something was not exactly typical,” says Jessica. “I mentioned it to her local pediatrician; however, Annika did a lot of other things typical and well, so she didn’t seem worried. I just knew deep down that something was off, and asked if, based on her prematurity, she could qualify for early childhood physical therapy. Annika began her first physical therapy when she was 7 months old.” Jessica’s persistence led Annika to early intervention therapies, and when Annika was 11 months old, she asked that the pediatrician refer her to a local pediatric neurologist. Despite […]

Para leer este blog en español, haz clic aquí! It all began when Arianna was just one year old. We noticed that one of her eyes was red and had a strange white spot in her pupil. Worried, we took her to her pediatrician, who immediately sensed that something was not right. We were referred to an ophthalmologist and then to a hospital, where she was diagnosed with a large mass in her eye. This mass was pushing her eye outward, so an emergency surgery was performed that same day to remove it. The surgery was successful, or so we thought. However, a few days later, the pathology results delivered the most devastating news: the mass was malignant. It was cancer. Arianna began chemotherapy treatment, going through six exhausting sessions. After that, she was discharged, but unfortunately, proper follow-up was not done to evaluate her other eye. Three years later, […]

Follow Olivia’s inspiring journey through amblyopia treatment, where patching and glasses restored her vision to 20/20. Discover valuable insights into pediatric eye care and research at Nemours Children’s Health.

Discover the inspiring journey of Dr. Daphney Kernizan, a dedicated Fetal & Pediatric Cardiologist at Nemours Children’s Health, Panama City.