ARTICLES RELATED TO:
Genetics

For Latisha, osteogenesis imperfecta (OI) has always been a part of life. Diagnosed around age 6 after multiple leg fractures, she knew the challenges that came with the condition. When she became a mother, she was determined to find the best possible care for her children. That search let her to Nemours Children’s Hospital, Delaware – the same place she had come to trust for her own care. Her children, Emerson and Lilly, were both diagnosed with Type 1 OI at birth. “Without the care from Dr. Franzone and the entire OI team, I’m not sure where my kids would be,” Latisha shared. OI, commonly known as brittle bone disease, is a genetic disorder that prevents the body from building strong bones. For Emerson, those fractures started early – he broke his leg three times in just one year after learning to walk. Lilly also faced fractures within months of […]

You may have seen in the news recently—in stories airing on NBC, and published in The Philadelphia Inquirer[PA1]  and USA Today—, the extraordinary study conducted by researchers at Nemours Children’s Hospital, Delaware. The study revealed that at least 10 babies have what doctors believe to be a new syndrome related to exposure to fentanyl in the womb. Erin Wadman, LCGC, Karen Gripp, MD, and Erica Fernandes, DO, along with their colleagues, published their findings in Genetics in Medicine Open. Get to know the women behind this groundbreaking research here:  What inspired you to pursue this research study? Wadman: The opportunity presented itself to me from working in outpatient genetics and the Cleft and Craniofacial clinic. I was noticing a pattern of patients who had similar physical differences but who also had no genetic diagnosis on genetic testing. All these patients had significant exposures to fentanyl during the pregnancy. From there, we knew we were on […]

In 2023, Stephanie, a mom and homeschool teacher from Virginia, found herself expecting her fourth child. Little did she know, this journey would lead her family to Nemours Children’s Health, bringing them expert care for her newborn son, Sawyer, who was diagnosed with osteogenesis imperfecta (OI) a condition that affects bone strength. In someone with OI, bones may break (fracture) easily, resulting from minor trauma or no clear cause. Before Sawyer’s arrival, Chris and Stephanie’s life felt complete with their three children: Cassie, Evan, and Eli. While unexpected, the news of a new addition to the family was quickly met with surprise and excitement. The entire family eagerly prepared for their newest member’s arrival. On a whim, Stephanie decided to take advantage of an extra ultrasound through a free service that was offered at her Pregnancy Resource Center. She wanted her other children to be involved and thought this was […]

My name is Jillian Franko, and I am 26 years old. I was born with several physical complications including club feet, dislocations of the knees, hips and elbows, and severe cervical kyphosis. As parents, my mom and dad wanted to ensure that I received the best care. They scheduled an appointment for me with an orthopedic specialist, who recommended serial leg casting for my club feet. This procedure meant weekly visits to have my feet repositioned and cast. Not seeing any results from serial leg casting, my mom contacted a local children’s hospital. She made appointments with specialists in genetics, orthopedics, and neurology. Unfortunately, they were unable to determine a diagnosis, and thus, could not provide proper care or treatment plans. Unsatisfied with the outcome of these appointments, my mom contacted the Schuylkill County Society for Crippled Children. She spoke with the organization’s director, who informed her of their free […]