Malignant Hyperthermia — A Life Saved on the Operating Table
Note: Real cases, names and ages have been changed for privacy.
The Family
Anna and Mike opted for a Fore Genomics screen when their daughter Maya was 6 months old. Maya was healthy, and the test felt like a “just in case” measure.
The Genetic Finding
The screen revealed a mutation in the RYR1 gene, which puts individuals at risk for malignant hyperthermia (MH)—a rare, but often fatal reaction to certain anesthesia drugs.
The Impact
- When Maya needed emergency surgery at age 3, her doctors avoided the specific anesthetic drugs known to cause dangerous reactions in people with MH.
- The surgical team prepared the OR with MH precautions.
- Maya’s surgery went smoothly, and she made a full recovery.
- What started as a precaution ended up being a life-saving decision. Knowing Maya’s risk meant her doctors were ready.
Why It Matters
Most people with MH don’t know until it’s too late. A simple screen gave Maya's care team a crucial heads-up—and gave her parents peace of mind.
Final Takeaway
Genetic screening is not about fear — it’s about preparation. These case studies show how insights from DNA can:
- Prevent emergencies
- Enable early treatment
- Guide lifelong health decisions
- Sometimes what you don’t know can hurt you. Genetic screening gave Maya’s family and her doctors the chance to avoid a tragedy.