Maggie, born in 2012, presented with unusually tight joints and unusual feet. Initial tests ruled out fatal conditions but yielded no diagnosis. Her mother's extensive research led to a suspected diagnosis of arthrogryposis multiplex congenita (AMC), a rare condition. After connecting with a specialist clinic in Philadelphia and undergoing numerous tests and treatments, Maggie's condition remained undiagnosed.

Through a Facebook group dedicated to the AMC clinic, Maggie’s mother connected with other parents of children with similar symptoms. This led to the identification of a potential new genetic syndrome, involving a ZC4H2 gene anomaly, by researchers and clinicians who collaborated with these families. In 2017, Maggie received a diagnosis of a ZC4H2 gene anomaly, connecting her to a community of families facing similar challenges.

The experience highlights the power of online support groups and collaborative research in diagnosing and understanding rare genetic conditions. The story also underscores the challenges faced by families navigating the complexities of rare diseases, where research funding and readily available information can be limited.

Impact Statement: This story emphasizes the critical role of online support groups and collaborative research in diagnosing and treating rare genetic conditions, improving outcomes for affected families.