After Madison became pregnant in 2018, she and her husband Mitch faced a challenging journey. Madison was carrying triplets, but tragically lost one during the pregnancy due to twin-twin transfusion syndrome. Fraternal twins Audrey and Emma were born prematurely at 30 weeks and received care in a Maryland newborn intensive care unit.
Emma progressed well, but Audrey experienced concerning episodes of low heart rate. A doctor noticed Audrey’s enlarged tongue, which led to a diagnosis of Beckwith-Wiedemann syndrome (BWS), a rare condition affecting about 1 in 10,340 births. BWS can cause overgrowth of body parts, an enlarged tongue, and increased cancer risk among other symptoms.
The complexity of BWS required multiple specialists for Audrey’s care. Madison’s mother discovered Dr. Jennifer Kalish at Children’s Hospital of Philadelphia (CHOP), who leads the Beckwith-Wiedemann Syndrome Clinic. The clinic provides comprehensive care with all necessary specialists available in one place.
Dr. Kalish started the clinic more than 15 years ago to create a multidisciplinary experience for BWS patients. The CHOP BWS Clinic has developed guidelines that clinicians worldwide can follow, including tumor-screening guidelines updated this year.
Audrey had her first appointment at CHOP five months after birth. “What we loved was that everything was connected at CHOP,” says Mitch. An ultrasound revealed a cancerous mass on Audrey’s liver which was successfully removed after surgery and chemotherapy.
Now six years old, Audrey is thriving with regular follow-ups at CHOP’s BWS Clinic. Despite her initial symptoms, she didn’t require tongue-reduction surgery as her growth normalized over time.
“We credit so much of how well Audrey is doing to Dr. Kalish,” Mitch states gratefully.
For those interested in supporting BWS research, contact Alexa Linton at lintona1@chop.edu.
