Sandra Pérez's life was forever altered by a genetic test, which not only saved her life but also revealed a hidden family connection. Just 15 days after her wedding, Sandra was diagnosed with acute myeloid leukemia (AML), a rare blood cancer, and given only two months to live if untreated. Sandra, a healthy and active athlete from Mexico City, had noticed difficulty breathing and painful ulcers in her throat. A blood test confirmed her suspicions, and her low red blood cell count led to a hematologist's prescription of vitamin B12 and folic acid. However, her condition worsened, and she was admitted to the Centro Médico Nacional Siglo XXI hospital. On January 4, 2024, she received the devastating diagnosis of AML, with cancer cells comprising 40% of her bone marrow. This prompted immediate chemotherapy. Sandra's personal network of experts guided her to biomarker testing, which revealed a mutation in the GATA2 gene and an ETV6:MECOM fusion, indicating a poor prognosis and high relapse risk. This led to a bone marrow transplant, a treatment often reserved for high-risk patients. Sandra's family, through internet searches, discovered a half-sister, Valeria, who agreed to be a bone marrow donor after a successful HLA compatibility test. Sandra's recovery is attributed to her scientific background, professional network, and the power of genomic testing, which allowed her to begin chemotherapy and the transplant protocol simultaneously. Today, she advocates for expanded access to genomic testing, emphasizing its life-changing potential and its ability to tailor treatment plans based on individual risk.
