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Patient Stories

Early in my pregnancy, we learned from an OBGYN that our daughter would face a series of complex medical challenges — her left eye had not fully developed, she had agenesis of the corpus callosum, and significant spine and ribcage abnormalities. These findings led to a diagnosis of Aicardi Syndrome. When the doctor shared the diagnosis, his initial recommendation was to consider terminating the pregnancy, then he left us to process the devastating news in disbelief and sorrow. In that moment of heartbreak and confusion, we chose faith. We decided we would not give up on our child or on God. From that day forward, we made a promise to always champion our daughter’s life and advocate for her future, no matter what challenges lay ahead. We left that doctor were soon referred to and followed by another high-risk maternal-fetal team, where we continued to receive compassionate and specialized care […]

At 11 years old, music was Garikoitz’s passion, but something was standing in the way. As a young violinist, he found himself constantly falling behind during rehearsals, arriving late on every note. What seemed like a simple coordination issue was actually something far more significant: a hearing problem that was affecting every aspect of Garikoitz’s life. In the classroom, teachers mistook his struggles for attention difficulties. “In reality, I just wasn’t receiving information fast enough to respond,” says Garikoitz. He felt stuck, unable to keep pace through no fault of his own. His mother sensed that something deeper was at play and made the decision to seek help at Nemours Children’s Hospital, Florida. A Compassionate Approach to Care From the moment they walked through the doors, the family was met with warmth and understanding. Audiologists Teresa C. Tray and Elyssa McRae conducted comprehensive hearing evaluations, quickly pinpointing the underlying issue. […]

At 20 weeks into her pregnancy, Valerie, Alena’s mom, received concerning news during a routine ultrasound: the long bones in Alena’s body weren’t measuring as they should. This unexpected finding led to a series of discussions with medical professionals. Two months after Alena’s birth, the diagnosis of Femoral Hypoplasia with Unusual Facies Syndrome (FHUFS) was confirmed. This rare genetic disorder is characterized by underdeveloped femurs, growth restrictions, and distinctive facial features. Alena’s journey with this syndrome has been a complex one, involving a variety of adaptive tools and treatments. “I use a walker, wheelchair, crutches, leg braces, and have a lift in my left shoe,” Alena explains. In an effort to address her growing needs, Alena and her family sought out orthopedic expertise. Alena’s case was referred to Dr. Shawn Standard, a specialist in pediatric orthopedics, who was based in Baltimore at the time. “We started receiving treatment from Dr. […]

Makyla’s mom, Myisha, was told during a routine ultrasound that her daughter would be born with a rare and complex condition known as Chondrodysplasia punctata and Conradi-Hunermann. This genetic disorder affects bone and cartilage development, leading to a variety of physical and medical issues. As Makyla grew, her spine began to curve more and more, making it difficult for her to walk long distances without struggling to breathe. “Her spine’s curvature also put pressure on her organs, making it hard for them to function properly,” says Myisha. In 2018, after years of seeking the best possible care, Myisha received a recommendation from another health organization to bring Makyla to Nemours Children’s Hospital, Florida. Nemours Children’s, known for its expertise in treating complex pediatric cases, was the ray of hope they had been searching for. The hospital’s multidisciplinary approach and specialized care offered a new path forward for Makyla. Walking through […]

At Nemours Children’s Hospital, Delaware, families like Ali’s find comprehensive care for scoliosis. Her family’s story is one of resilience and hope, and their experience provides valuable insights for other kids and parents facing similar challenges. Ali’s Experience with Scoliosis Ali was diagnosed with scoliosis during a visit to her primary care office. Scoliosis is a condition where the vertebrae form a curved line instead of being straight, which can cause health problems. Her growth chart stalled and then reversed, prompting X-rays. After a bad experience at another facility, the family turned to Nemours Children’s Hospital, Delaware for a second opinion where they found a warm and welcoming environment. There, Dr. Suken Shah directly engaged with Ali, understanding her experience and exploring treatment options. Ali tried bracing and underwent an intensive physical therapy plan; however, her spinal curve continued to progress. At her second visit, Dr. Shah recommended she move […]

Born with microtia, a condition where the outer ear is smaller and sometimes misshapen, Zyanali’s right ear was visibly different from birth. “While it is mild, it was visibly obvious that it was not normal,” her mother shares. Microtia is a congenital condition, meaning it is present at birth, and it can vary in severity. In Zyanali’s case, the condition was more about the appearance of her ear rather than a significant hearing impairment. However, the visual difference was noticeable enough to draw attention and curiosity from others. As Zyanali grew, the social impact of her condition became more apparent. “She would often come home from school and tell me that kids were asking about her ear,” says her mother. These questions, while innocent, could be distressing for a young child. “We faced similar inquiries in public, people wanting to know what had happened to her ear or whether she […]