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Patient Stories

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 […]

13-year-old Sam has been a patient at Nemours Children’s Health for much of his life. Born with a rare, unbalanced translocation, a chromosomal condition that affects many parts of the body, he lives with global developmental delays and several chronic health concerns. Throughout his life, Sam and his family have worked closely with a wide range of Nemours Children’s specialists. “We have been seeing Nemours specialists since Sam was itty bitty,” shares his mother, Audrey. “Over the years, he has been under the care of orthopedics, audiology, cardiology, pulmonology, surgical services, the gastrointestinal department, nutritionists, and neurology. We have seen quite a lot of the hospital and a lot of the doctors over the years.” Among the many medical challenges Sam faced was scoliosis, a condition in which the vertebrae form a curved line instead of being straight. “Sam was born with a group of congenital birth defects including some […]

16-year-old Angelina started experiencing severe stomach pains and spasms, symptoms that arrived suddenly and without warning. As her discomfort grew, so did her family’s concern. Looking for help, Angelina’s mom, Aimee, turned to the expertise of Dr. Gina Amoroso, a close family friend and a trusted pediatrician at Nemours Children’s Health. Dr. Amoroso referred them to Nemours Children’s Hospital, Delaware where they headed straight for the emergency room. From the moment Angelina and her family stepped into Nemours Children’s, they knew they were in capable hands. Aimee recalls, “They were very concerned and diligent in helping to find the cause for her pain. They empathized and worked hard to find the root of the problem.” After a series of tests and examinations, the team discovered Angelina had OHVIRA syndrome, a rare condition characterized by an abnormal uterus and the absence of a second kidney. This rare congenital condition often doesn’t […]