Patient Story

Optimizing Prenatal and Neonatal Care for Infants With Treatable Rare Diseases
Optimizing Prenatal and Neonatal Care for Infants With Treatable Rare Diseases 1024 619 Katie Brind'Amour, PhD, MS, CHES

As new treatments emerge and diagnostics improve, earlier interventions offer infants with rare metabolic and neurodegenerative conditions a future wildly different than ever before. Not long ago, a diagnosis of molybdenum cofactor deficiency (MoCD) type A meant death before kindergarten. Since the FDA approval of NULIBRY® (fosdenopterin) in 2021, however, children diagnosed with MoCD type…

The First 3 Years With PBS: Bryson’s Story
The First 3 Years With PBS: Bryson’s Story 953 269 Wendy Margolin

The first time Andrea Williams met her new baby was four days after his birth. Baby Bryson was born with the rare congenital disorder, prune belly syndrome (PBS), and was rushed to the Nationwide Children’s Hospital NICU immediately after birth. His enlarged belly meant he was delivered by C-section at 37 weeks, and it wasn’t…

Building Hope, Recovery, and Life Beyond Substance Use Disorder
Building Hope, Recovery, and Life Beyond Substance Use Disorder 1024 702 Abbie Miller

Five years ago, Pediatrics Nationwide dedicated its fall issue to a comprehensive look at the effects of the opioid crisis on children and families. At that time, Sarah Parker was working hard to stay sober, recovering from the very crisis holding the nation’s attention. Parker grew up in Chillicothe, Ohio, halfway between Portsmouth, Ohio, the…

Fetal Surgery for Spina Bifida: Supporting A Bright Future Closer to Home
Fetal Surgery for Spina Bifida: Supporting A Bright Future Closer to Home 150 150 Alaina Doklovic

During her 20-week ultrasound appointment, Brittany Badenhop learned her baby had spina bifida, a term used to describe many disorders that occur during the development of the central nervous system. Spina bifida occurs very early on in a pregnancy as the embryo forms. Brittany and her husband Jared learned that their baby’s spine was not…

Mason’s Story: A Less Invasive Solution for Achalasia
Mason’s Story: A Less Invasive Solution for Achalasia 1024 683 Emily Siebenmorgen

A 9-year-old boy with life-long difficulty eating and keeping down food underwent a new procedure being performed in children from Muhammad Khan, MD, MPH, FASGE, pediatric gastroenterologist and the director of interventional and diagnostic endoscopy at Nationwide Children’s Hospital. Achalasia is a progressive swallowing disorder, where the muscles at the bottom of the esophagus fail…

Robotic Approach to Rare Case Leads to Best Possible Outcome
Robotic Approach to Rare Case Leads to Best Possible Outcome 1024 683 Emily Siebenmorgen

A rare tumor in a child from Greece is resolved by robotic spleen-sparing distal pancreatectomy. Hospital visits can feel like a foreign experience for anyone, especially so when your hospital is actually in another country. But eight-year-old Evangelia felt especially at home after traveling to Nationwide Children’s Hospital from Greece for her care. Evangelia’s first…

The Impact of Genomic Medicine: Carter’s Story
The Impact of Genomic Medicine: Carter’s Story 1024 685 Natalie Wilson

In 2013, at just 1 year old, Carter Daggett was diagnosed with a rare brain tumor. Now, in 2021, at 8 years old, he celebrated three years cancer free — thanks to his clinical teams and cutting-edge research by the team at the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s Hospital.…