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Nemours Children’s Health, Delaware Valley

Everlee’s story begins with a diagnosis of hepatoblastoma, a rare form of liver cancer, at the age of 17 months. Her mother, Jenna, recalls the moment when she first noticed something amiss with her daughter’s health. “It was right around Christmas of 2022,” says Jenna. As first-time parents, Jenna and Jarod couldn’t shake the feeling that Everlee’s belly seemed larger than normal. Despite reassurances from pediatricians, inklings of concern persisted, especially when family members echoed their observations. “Something just seemed off,” says Jenna. “I was giving her a bath one day, and I laid her out on the towel and thought, ‘Oh my gosh, she just looks so bloated.’” Alarmed, Jenna wasted no time in seeking medical attention. She was able to get Everlee in to see her local pediatrician at their last appointment for the day on Friday, January 13th. The routine examination led to the discovery of a […]

Eloise, a dynamic and determined young girl, received a diagnosis of cerebral palsy just before her second birthday.  After Eloise celebrated her first birthday, her parents assumed she would start walking soon, but as each month passed by, despite their initial hopes and patience, Eloise had still not taken her first steps.  Her parents recall the pivotal moment when, at 18 months, Eloise was referred by her primary care physician for evaluations and specialized care. Their journey led them to Nemours Children’s Hospital, Delaware where Eloise underwent a series of comprehensive evaluations, including MRI, EKG, and X-rays. While the test results appeared normal, Eloise was diagnosed with spastic diplegic cerebral palsy due to her muscle spasticity and gait difficulties.  Eloise’s family learned to their surprise that in a majority of cases, the specific cause of cerebral palsy is unknown.  Eloise took her first steps shortly before her 2nd birthday, albeit […]

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 […]

Madison’s dysplasia journey began even before she came into the world. During pregnancy, concerns arose as she was smaller than expected. However it was only after her birth, when she was diagnosed with hip dysplasia, that the first signs of something more complex emerged. X-rays at four months old revealed trident acetabulum and an s-shaped scoliosis, so a skeletal dysplasia genetic testing panel followed, identifying changes in B3GALT6. Variants in this gene are associated with a rare skeletal dysplasia known as spondyloepimetaphyseal dysplasia joint laxity type 1 (SEMDJL1). This condition can cause issues like progressive scoliosis, joint laxity/dislocations, and more. When they found out about her diagnosis, Madi’s family faced uncertainties about what her future might look like. However, Madi’s fiery spirit has shone through. She charms everyone she meets with her sassy personality and infectious joy. Madison’s mom, Anna, emphasizes that her daughter has never allowed anything to hinder […]

When Valerie was 5 years old, Brant and I noticed her energy and endurance greatly decreasing. She was unable to run for more than a minute or even go on a quarter mile walk without needing breaks and getting winded. Her endurance seemed to take a sharp turn for the worse in the summer later that year. She developed abdominal bloating. Her ability to play outside with her brothers or neighborhood friends was becoming increasingly difficult. She also would become overheated easily; she couldn’t be outside in the summer heat for long at all before needing to go back inside to the AC. Her appetite also started to dwindle. All her symptoms reached a level of concern to the point where we needed to investigate a solution with the help of medical professionals. After lab work with the pediatrician to rule out things like diabetes, celiac, and Crohn’s, they performed […]

Follow the inspiring journey of 10-year-old Ashley Garcia, who triumphs over microtia with personalized care at Nemours Children’s Hospital, Delaware.