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Isaac’s journey with Nemours Children’s Health began after a long search for answers.  Around his first birthday, his parents noticed that something wasn’t right. “Isaac was extremely nauseated, underweight, and falling behind developmentally,” his mom recalled. After months of uncertainty, genetic testing revealed a rare diagnosis: SYNGAP1, a condition that affects only about 475 people in the U.S. and roughly 1,500 worldwide. SYNGAP1 causes developmental delays, epilepsy, and autism, making even everyday milestones more difficult.  Before coming to Nemours Children’s, Isaac’s seizures were constant and resistant to medication. “His neurologist said it was as if his brain were on fire,” his mom said. “He would just sit and stare off into space most of the day.” At just 3 years old, SYNGAP1 has left Isaac fully disabled, and he is not yet walking or talking. The emotional and physical toll was heavy for his family, who had spent years visiting multiple hospitals and doctors without answers.  That changed when […]

Managing a chronic condition like Type 1 Diabetes (T1D) is never easy, especially for children and adolescents. It requires constant attention to blood sugar levels, insulin administration, and carbohydrate intake, among many other factors. But there is a lesser known obstacle to this condition that often goes overlooked: mental health struggles, specifically, depression. Alexandra Monzon, PhD, a clinical pediatric psychologist with Nemours Children’s Hospital, Florida, is working to provide targeted mental health interventions for children with T1D. Why Depression is More Common in Kids with Type 1 Diabetes Dr. Monzon explained that T1D is stressful for young patients due to its demanding and constant nature — it requires patients to “be their own pancreas.” The continuous effort to regulate blood sugar through diet and insulin shots can lead to patients being overwhelmed, anxious, and depressed. Dr. Monzon noted that symptoms can overlap and intensify in patients with Type 1 diabetes […]

In April 2024, Logan began experiencing persistent right shoulder pain. What made it particularly confusing was that he hadn’t experienced any recent injuries or trauma. His family, concerned, took him to see his pediatrician, who, after a thorough examination, referred them to a local pediatric orthopedic specialist. Whittney, Logan’s mother, recalls, “When the pain started, Logan was hurting all the time. He kept his arm in a sling for a little over a month, but there was no improvement. He had trouble putting on his own shirt and couldn’t lift a carton of milk. He couldn’t play baseball or do any of the things he enjoyed so it started to affect his mental health.” The local orthopedic specialist was diligent in trying to pinpoint the cause of Logan’s discomfort. Over the course of a month, he ordered a series of lab tests and imaging studies. Despite these efforts, the specialist […]

Adopted from Colombia two years ago, Miguel’s congenital limb deformity had left him unable to stand or walk, relying on his knees and a wheelchair to navigate the world. “We were aware of his congenital limb deformity, but we weren’t exactly sure what that would mean for him in the course of his life,” his mother, Jennifer, shares. Life before treatment was a series of adaptations and challenges. Miguel had developed his own way of navigating the world. He would “walk” and crawl on his knees, using custom knee pads to cushion his movements. “He was amazingly active,” Jennifer shares, “but he did have frequent pain and skin issues from ‘walking’ on his knees.” His inability to stand or reach things independently made everyday activities a constant challenge. His family’s resolve to find a solution grew stronger with each passing day. “Because he also has shortened arms, we realized that […]

When Allison was 21 weeks pregnant, she and her husband, Chris, learned that their son, Jackson, would be born with diastrophic dysplasia, a form of dwarfism. After his birth and spending 37 days in the NICU at their local hospital near their home in Virginia, they began to see specialists for Jackson’s care. “Shortly after learning Jackson’s diagnosis, we connected online with another family whose son also has diastrophic dysplasia,” shares Allison. “They recommended we consult with the skeletal dysplasia team at Nemours Children’s. While Jackson was still in the NICU with feeding issues, we were in contact with Angie Duker, MS, CGC.” In May of 2016, when Jackson was just 3 months old, they made their first visit to Nemours Children’s Hospital, Delaware. “As diastrophic dysplasia is not as common as other types of skeletal dysplasia, we were looking to find care from medical professionals with specific and successful experience with the […]

At 17, elite soccer player, Anel, faced a daunting diagnosis of a torn acetabular labrum and femoroacetabular impingement (FAI), threatening his athletic dreams. For Anel, the first signs of trouble appeared during a significant growth spurt. “I initially had pain back in 2022 when I had a growth spurt and never thought anything of it,” Anel shares. Though he dismissed it, the pain persisted, and after months of intermittent issues, his athletic trainer at Jacksonville FC recommended he seek further medical attention. It was then that Anel was referred to Nemours Children’s Health, Jacksonville. When Anel started receiving treatment from Sports Medicine Director, Dr. Stephanie Pearce and Caitlin Schlosser, MHA, ATC, OTC, they quickly realized the severity of his condition. “They immediately found out the problem with an MRI scan, and we proceeded with a treatment plan,” Anel explains. The first approach was to try a less invasive method, a […]