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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 […]

Yeraldi is more than just a speech-language pathologist, she’s a key part in helping children communicate with confidence. As a member of the plastic surgery department at Nemours Children’s Hospital, Florida, Yeraldi works closely with children with cleft lip and palate, craniofacial conditions, and other diagnosis that affect communication. “I have always known that I wanted to work with children,” shares Yeraldi. “My interest in the field was sparked when my mother introduced me to a friend who worked as a Speech-Language Pathologist (SLP). After observing her work one day, I was immediately captivated by the profession. What resonated most with me was witnessing the profound impact of effective communication and the ability to help children find their voice.” One of her favorite aspects of working at Nemours Children’s is the culture of teamwork. “I feel incredibly fortunate to work alongside such a talented, supportive, and intelligent group of professionals,” […]

Eddie has been a patient at Nemours Children’s Hospital, Delaware since he was just 2½ years old. Now 21, he’s spent nearly two decades navigating Morquio A syndrome and making trips to Delaware from Wisconsin to receive the care he needs. His journey began when his parents noticed developmental differences. “I was 2 years old, and my mom started worrying about my chest bone because it looked abnormal,” shares Eddie. For the next nine months, his family saw many different doctors to seek answers. Finally, they discovered a doctor who immediately recognized his symptoms and diagnosed Eddie with Morquio, and recommended they see Dr. William Mackenzie at Nemours Children’s. Morquio A syndrome (also known as mucopolysaccharidosis IVA or MPS IVA) is one of a group of disorders called mucopolysaccharidosis (MPS). In MPS, there’s either not enough of the enzyme that breaks down a type of sugar called glycosaminoglycans (or mucopolysaccharides) or none at all. […]