The road to a rare disease diagnosis is often filled with unexpected twists and turns. For Cara, it was a television show that was the surprising catalyst for her son’s genetic diagnosis.
While Finn was thought to have a genetic abnormality before birth and experienced some complications after he was born, no specific genetic irregularity was identified. He appeared to be a healthy, cheerful baby boy.
It wasn’t until several months later when Finn began to experience issues including gagging, choking, and vomiting, that Cara become concerned again that something might be wrong.... read more.
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