The Turning Point: A Second Opinion and Whole Genome Sequencing
In 2023, Ryan sought a second opinion from Dr.Vera Kaplan, a neurologist at the University of Calgary. Dr. Kaplan, suspecting a misdiagnosis, recommended whole genome sequencing - a comprehensive analysis of a person's entire DNA. This advanced testing, unavailable earlier in Ryan's life, revealed a shocking truth: she did not have mitochondrial disease.Instead, she had a mutation in the SLC5A7 gene, a condition linked to a buildup of creatine in the brain.