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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 […]

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 […]

When Callen was first diagnosed and needed heart surgery, his family faced one of the most frightening times of their lives. But through it all, Nemours Children’s Health stood by their side. “Looking back now, I am so grateful we were lucky enough to get him transported by air ambulance to Nemours Children’s,” Callen’s mother Amber shared. “It was a scary time for all of us, but they really did go above and beyond in every way possible to make sure my son received the best care. We wouldn’t have wanted to end up anywhere else.” Callen continues his care at the Nemours Children’s Pensacola, Florida, location every six months. Even though the family now lives in Alabama, they don’t hesitate to make the drive. “It’s still 100% worth it for the care he receives at Nemours Children’s,” Amber explained. From urgent surgeries to everyday follow-ups, the team has remained […]

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 […]

Elliott’s journey with Nemours Children’s Health began when he was just 2 years old. On May 30, 2024, his family received the life-changing diagnosis of CLN2 disease. “We found out from genetic testing on May 30, 2024 I believe,” said his dad, Nathan. “I was assuming the school was under-feeding my son. I was upset at everyone until I figured out what was causing seizures.” At first, Elliott received his infusions at a different provider in Gainesville, Florida. Eventually, his care returned to Nemours Children’s when the hospital began offering Brineura®, the only FDA-approved treatment for CLN2. Nemours Children’s is the only pediatric hospital in Central Florida offering this life changing therapy. “People said to come here,” Nathan recalled. “The Nemours Children’s team has always been top notch. Very kind people here. Their teams seem to have much better resources and location for me. I’m forever indebted to the team. […]