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Nemours Children’s Health, Delaware Valley

At just 21 years old, Sparsh has already achieved what many only dream of, inspiring and touching the hearts of millions across the globe. Born with Osteogenesis Imperfecta, a condition making his bones extremely fragile, Sparsh faces unique obstacles in his daily life. Unable to bear weight on his hands and legs, he navigates the world differently than other kids. It was Sparsh’s diagnosis of severe scoliosis at the age of 14 that led him to Nemours Children’s Health. During a routine checkup and X-Rays with his local orthopedic doctor, Dr. Thomas McPartland, the scoliosis was discovered. Conversations about spinal fusion surgery immediately began. “My scoliosis required me to rest often in my wheelchair or on my bed to relieve back pressure,” says Sparsh. “It severely affected my posture, which indirectly hampered the function of vital organs such as my lungs, which are important to my singing career!” Sparsh is […]

Brittany and John found themselves navigating uncharted waters when their son, Elias, was diagnosed with rhizomelic chondrodysplasia punctata (RCDP) type 1. RCDP is a rare skeletal dysplasia that affects the body’s ability to produce plasmalogens which are essential for cell structure and nervous system function. Their journey began with the unexpected—low amniotic fluid during Brittany’s induction with Elias at 37 weeks. What followed were suspicions of cerebral palsy, only to discover skeletal differences and cataracts as well. It wasn’t until Elias was ten months old that the diagnosis of RCDP was confirmed. Before Nemours Children’s Health, life for Brittany and John was a whirlwind of uncertainties and challenges. “Our main struggle before diagnosis & coming Nemours was feeding issues,” share Brittany and John. “First, we didn’t realize Elias had a rare form of dwarfism, so we weren’t sure why he wasn’t gaining weight. Second, he developed a bottle aversion at […]

Madison’s journey with Hemophagocytic Lymphohistiocytosis (HLH) began at 2 months old. A severe ear infection spiraled into Mastoiditis, leading to urgent surgery and a slew of testing. It was a challenging time for her mother, Jeannine, and their family. They grappled with the possibility of HLH, a blood and immune system disorder that had already touched their lives through Madison’s brother. Jeannine recounts, “Madison’s condition was weighing heavy on our minds that she could have HLH like her brother did.” Having sought care for her son at Nemours Children’s Hospital, Delaware, Jeannine turned to the hospital once again, entrusting them with Madison’s care. “We have always felt the doctors and therapists have cared for and loved us truly from their heart,” says Jeannine. “We went to larger hospitals and felt like we were a number there, but not at Nemours.” Madison’s treatment at Nemours Children’s primarily involves outpatient therapy services. […]

For Carly, the journey to a Morquio Type A diagnosis began with uncertainty. As a young child, there were signs that something wasn’t quite right, and her parents embarked on a quest for answers. After a lot of testing and a few misdiagnoses, it wasn’t until Carly was around a year and a half old that a local doctor stumbled upon a small paragraph in a textbook about Morquio Type A, setting the stage for a lifelong medical journey. When her physician, Dr. Kopis from St. Jose Hospital, could no longer practice, Carly’s journey led her to the care of Dr. William Mackenzie at Nemours Children’s Hospital, Delaware. With expertise in skeletal dysplasia, Nemours Children’s was the perfect fit for Carly, offering specialized care tailored to her needs. “From the beginning, my parents loved the care I received at Nemours,” says Carly. “My mom immediately transitioned all of my doctors to […]

In the world of healthcare, finding a place that feels like home can be a challenge. For Amanda, mother of 4-year-old Mackenzie, that home is Nemours Children’s Hospital, Delaware. Mackenzie’s journey with osteogenesis imperfecta (OI) began even before she took her first breath. At just 25 weeks, Amanda learned of her daughter’s diagnosis. “I went for a routine anatomy scan while pregnant. Significant bowing in Mackenzie’s legs and long limb measurements indicated that she would need more testing. I received an amnio and was sent to another hospital where she was diagnosed,” Amanda recalls. Transitioning Mackenzie’s care to Nemours Children’s was a pivotal moment for their family. They discovered the facility after finding recommendations on social media. “We are part of a group on Facebook for parents of children with OI,” says Amanda. “I was asking questions when Mackenzie broke her arm at 10 days old and someone recommended we […]

“At the 20-week ultrasound, I learned about his skeletal dysplasia,” Brittany recalls. “And at the 33-week Vistara blood test, I learned about his OI diagnosis.” These moments marked the beginning of Cruz’s journey, but they also sparked Brittany’s search for the best care possible for her son. It was during her 35th week of pregnancy that Brittany discovered the Advanced Delivery Program (ADP) at Nemours Children’s Hospital, Delaware, thanks to a recommendation on the Osteogenesis Imperfecta Community Facebook page. “Their care, communication, and knowledge gave us extreme confidence in the ADP Team,” says Brittany. “They had a plan, relayed it to us, listened to our concerns, and had experience delivering OI babies.” The support Brittany received from the medical staff at Nemours Children’s during the delivery process was nothing short of extraordinary. “They showed compassion during every step,” Brittany emphasizes. “They helped keep me calm by talking about my 2-year-old […]