Riley’s Journey with Poland-Moebius Syndrome: A Mother’s Perspective

Jeannie Hochstetler from Indiana has shared insights into her toddler Riley’s rare condition, which results in a permanent “mask-like face” that prevents him from forming facial expressions. After an uneventful pregnancy, Riley was born on January 29, 2025. Initially, there were no concerns leading up to his birth; the only unusual aspect was that Hochstetler’s stomach measured small, suggesting she might have a small baby, something not atypical.

The first indication that something was amiss came at Riley’s birth. “He did not cry when he was born,” Hochstetler explained. “I believed he needed help adjusting to life outside the womb.” Doctors placed oxygen on Riley and observed him closely, indicating they suspected a problem. Riley was swiftly moved to the local NICU, 40 minutes away, for further evaluation.

During this assessment, medical professionals noticed Riley’s small, webbed hands and the absence of his right pectoral muscle. His mouth would not open widely, necessitating a CPAP system and an NG tube for feeding. Despite extensive testing, Riley’s condition puzzled doctors.

After weeks in the NICU, a doctor proposed that Riley may have Poland-Moebius Syndrome, a rare congenital disorder causing facial paralysis and underdeveloped chest muscles. Given the syndrome’s complexity, Riley was transferred to a larger NICU three hours away.

“This was one of the hardest parts for me,” Hochstetler recalled. “Two weeks postpartum, seeing strangers load my baby into a helicopter was a surreal introduction to parenthood.” At three weeks old, Riley received a definitive diagnosis of Poland-Moebius Syndrome. According to the National Institutes of Health (NIH), Moebius Syndrome occurs in approximately one per 50,000 live births, resulting from the underdevelopment of facial nerves that manage expressions and eye movements. Those affected may struggle with swallowing, speaking, smiling, hearing difficulties, and motor delays. Often linked to Poland Syndrome, this condition involves missing or underdeveloped chest muscles.

The diagnosis was overwhelming for Hochstetler, who had no prior knowledge of these syndromes. “Learning that my baby would never smile was incredibly hard,” she shared. “I felt grief because this wasn’t the parenthood I pictured, and sadness for my baby given what he had endured and would face.” Physicians advised that each Moebius case is unique, requiring them to assess Riley’s specific challenges over time.

While there’s no cure for Moebius Syndrome, the family focuses on symptom management. Riley’s missing seventh cranial nerve affects his facial movement, coupled with restricted eye movement. He receives nutrition through a G-tube, but Hochstetler hopes to transition to oral feedings as his swallowing improves. At 13 months, Riley underwent strabismus surgery to correct cross-eyes and another procedure for his eyelashes. He’s had two MRIs and several hearing tests, revealing mild hearing loss in his left ear.

Hochstetler described Riley’s laughter as her favorite sound. “He uses his voice when unhappy, and I’ve become skilled at interpreting his body language,” she noted. Riley’s non-progressive condition means it won’t worsen over time. Therapy offers potential improvements, and Riley continually adapts. “He’s so clever and amazes me,” she added.

Since Riley’s diagnosis, Hochstetler documents their journey on social media (@jeanniebontrager on TikTok) to raise awareness about Moebius Syndrome. She hopes to exhibit the powerful strength and resilience Riley embodies and demonstrate how love can be expressed through diverse ways.

“Riley is my greatest blessing, and I’m profoundly grateful to be his mom. Despite his challenges, he’s one of the happiest babies,” Hochstetler concluded.