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Mom's Gut Feeling Uncovers Rare Genetic Disorder in Baby
17 Jan
Summary
- A mother's intuition led to the diagnosis of Williams syndrome in her infant daughter.
- Subtle developmental delays and physical signs prompted extensive medical testing.
- Sharing her journey aims to empower other parents to trust their instincts.
A South Dakota mother's unwavering intuition guided her to a rare diagnosis for her infant daughter, Ramsey. Initially dismissing her concerns as a new parent's anxiety, she began noticing subtle developmental differences and physical signs around three months old, including rigid movements and increased muscle tone. These early indicators, coupled with later findings such as a difficult-to-feel fontanelle and a possible heart murmur at six months, prompted a series of medical investigations.
Further testing, including an EEG and EKG, ruled out seizures but revealed mild heart valve issues. The persistent lack of clear answers led a pediatrician to refer the family to a neurogenetics program. Comprehensive assessments there confirmed the need for genetic testing, which ultimately identified a microdeletion on chromosome 7, diagnosing Ramsey with Williams syndrome. This rare genetic condition affects multiple body systems and presents uniquely in each child.
