Rare Disease Misdiagnosis - Brentney's Story

For 22 years, South Carolina native Brentney Simon and her family thought that she was living with a fatal mitochondrial disease. Brentney came to Mayo Clinic and underwent whole exome sequencing, which revealed a different diagnosis.

It was discovered that Brentney has two novel variants in her RYR1 gene. This new diagnosis means that there is a very different future in store for Brentney.