Mother Shares Journey with Son’s Rare Condition

Jeannie Hochstetler from Indiana has shared her experience with her son’s rare condition, which gives him a permanent ‘mask-like face’ preventing facial expressions. Despite a smooth pregnancy, Jeannie welcomed her son, Riley, on January 29, 2025. Initially, there were ‘no concerns’ about her son’s health, aside from her stomach measuring small, suggesting she might have a small baby, a common occurrence.

Concerns arose shortly after Riley’s birth. He didn’t cry, requiring immediate medical attention. Doctors noted his small, webbed hands and the absence of his right pectoral muscle. Medical professionals struggled to diagnose him, noting they couldn’t open his mouth widely, necessitating the use of CPAP and an NG tube for feeding. Despite evaluations, Riley’s symptoms remained puzzling.

After weeks in the NICU, doctors suspected Poland-Moebius Syndrome. This rare congenital disorder causes facial paralysis and undeveloped chest muscles. Riley was transferred to a NICU three hours away for better care, a challenging moment for Jeannie, who had just delivered her baby.

Riley was diagnosed with Poland-Moebius Syndrome at three weeks. The National Institutes of Health states Moebius Syndrome affects approximately one in 50,000 births, causing underdevelopment of facial nerves, resulting in difficulty with expressions, swallowing, and speech, among other challenges. Poland Syndrome often accompanies it, leading to missing chest muscles.

The diagnosis was overwhelming for Jeannie, who was unfamiliar with the conditions. Learning that Riley would never smile was particularly difficult. She expressed feeling grief for not experiencing the parenthood she imagined, combined with empathy for Riley’s struggles.

With no cure for Moebius Syndrome, managing symptoms is the focus. Riley has no seventh cranial nerve for facial movement and limited eye movement. Despite this, he communicates emotions differently. He uses a G-tube for feeding, but Jeannie anticipates trying oral feedings as his swallowing improves.

Riley underwent strabismus surgery at 13 months to correct his crossed eyes and had another procedure for eyelashes affecting his eyes. He has mild hearing loss in one ear, validated by MRIs and hearing tests.

Jeannie describes Riley as having a delightful laugh and being vocal about his displeasure. She’s learned to interpret his body language. Since Riley’s condition is non-progressive, meaning it won’t worsen, therapy has already improved many aspects of his life. He exhibits adaptability and intelligence, impressing those around him.

Jeannie shares their journey on social media at @jeanniebontrager on TikTok, aiming to raise awareness for Moebius Syndrome. Riley has taught Jeannie about resilience and strength, showing that love manifests in numerous ways.

Jeannie emphasizes Riley’s role as her greatest blessing, expressing profound gratitude for being his mother. Despite significant challenges in his young life, Riley remains one of the happiest babies.