At 15, Ella Wright had been battling painful headaches for years when she was eventually diagnosed with accommodative infacility. She went through months of eye therapy, and while her eyes began focusing correctly, the headaches still didn’t go away. That’s when her family returned to the doctor this time, they were referred to Nemours Children’s Health in Jacksonville, Florida. Before Nemours, Ella struggled with frequent, debilitating headaches. Her family described her as “relying on over-the-counter medication more than five days a week just to get through the day. After school, she’d go straight to bed, needing a dark, quiet room to cope with the pain.” The constant discomfort affected her mood, her energy, and her ability to enjoy daily life. We live in Georgia and weren’t familiar with Nemours,” her family said. “But everyone there has been wonderful. Dr. Janet Leon, Nemours pediatric neurologist, is outstanding—she’s a great listener, very […]

When Haven was born, her family quickly learned she was diagnosed with a rare genetic condition called nail patella syndrome, also known as Fong’s disease. She’s one of only about 50,000 people who have it. The condition, which can affect the development of bones, joints, and nails, made everyday life a challenge. Thanks to the expertise of Nemours Children’s Health, Jacksonville, and the specialized care of Dr. David Mandel, Haven’s journey has been one of resilience and progress. Haven’s family didn’t have to look far for exceptional care. Living nearby, they turned to the Nemours Children’s orthopedics team. Here, they not only found medical expertise, but a compassionate support system. “They have always been wonderful and have helped Haven throughout her whole journey,” says her mother, Kyla. Dr. Mandel, a leading expert in pediatric orthopedics, is skilled in complex procedures like Haven’s. She underwent two 4 in 1 quadricepsplasties, a […]

Born with Congenital Diaphragmatic Hernia (CDH) – a diaphragm condition that has led to asthma, gastroparesis, and scoliosis – 14-year-old Rylee has been in her fair share of doctor’s appointments. Through family moves and changing health systems, one thing has remained constant throughout Rylee’s care: Dr. Joseph Khoury. “We first met Dr. Khoury in Birmingham, AL,” shares Rylee’s mom, Allison. “We’ve followed him to different hospital locations for treatments with scoliosis from her birth defect. Her treatments started when she was 6 months old with Mehta castings for a year and a half and then began providence brace(s) until her bone age stopped growing.” Rylee and her family discovered Nemours Children’s Health, Lakeland when Dr. Khoury began working at the practice. “We followed our wonderful orthopedic specialist to Nemours,” says Allison. At Nemours Children’s, they’ve connected with an expert team of specialists that have become like family. “We have thoroughly […]

The day Maddie was born, doctors performed an X-ray to investigate fluid in her lungs. During this X-ray, they discovered signs of Rhizomelic Chondrodysplasia Punctata (RCDP). This rare condition, which affects bone growth and can lead to orthopedic and developmental challenges, was confirmed a few weeks later through bloodwork. With the help of Nemours Children’s Hospital, Delaware pediatric specialists and cutting-edge research, Maddie and her family have found a community that understands and supports them. “We were introduced to Nemours Children’s in 2017 by RhizoKids International,” shares Maddie’s mom, Jenna. “Through this partnership, we connected with the Nemours team and specialists focused on RCDP. This led to our involvement in the development of the RCDP Natural History Study, an important step in preparing for clinical trials of synthetic plasmalogen.” Maddie and her family have been actively involved in the RCDP Natural History Study conducted at Nemours, attending visits every six […]

We were at our favorite skate park with friends when my son, Rocco, fell off his skateboard and hurt his leg. We headed straight to the ER, where we found out that Rocco had a closed triplane fracture of his right ankle. While in the ER, they also noticed his blood pressure was high. My first thought was, ‘He just broke his ankle, of course it’s high.’ But the nurse insisted that we make a follow-up appointment with his pediatrician. After a few days of Rocco being home, we checked his blood pressure, and it was still very high. So, we made an appointment with the pediatrician. Rocco’s father was 13 years old when he went into kidney failure. Because of this family history, I asked them to do a full kidney workup on Rocco. A day later, we received a phone call asking us to go to our local […]

For years, Tiffany knew something wasn’t quite right with her son Noah’s voice. From birth, his cry was softer than expected and his voice high-pitched. He struggled with reflux, swallowing difficulties, and vocal strain. “I had been asking doctors about Noah’s voice since birth,” shared Tiffany. “But every year, they dismissed it as reflux.” Finally, when Noah was 9, a referral for voice therapy led him to Nemours Children’s Health, Winter Garden. Here, he met speech-language pathologist, Katie Slone, CCC-SLP. Mrs. Slone dug deeper, requesting further tests to get to the root of the issue. The answer? Noah had a congenital laryngeal web, a condition where tissue partially blocks the airway, affecting the sound of his voice. With a diagnosis in hand, Noah began voice therapy at Nemours Children’s. Under Mrs. Slone’s guidance, he worked on techniques to improve his voice while his family weighted long-term treatment options. “Mrs. Slone […]