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by sacul 1356 days ago
My daughter has a rare genetic disorder, cardiofaciocutaneous syndrome (CFC), and it was not until 2 years in that we were able to get a diagnosis after a whole gene sequence. It was game-changing to get the diagnosis, because it connected a to a community and to doctors who could help.

https://rarediseases.info.nih.gov/diseases/9146/cardiofacioc...