Unexpected Health Crisis Helps Family Learn Vital Health Information

On the evening of November 12, 2018, my husband and I received a call from our then 18-year-old daughter Oli’s school, informing us that she had been found outside her room with no pulse, in full cardiac arrest after a fire alarm went off in the dorm.

The security officer started chest compressions and brought her back with one shock from the automated external defibrillator, which is a portable device that delivers an electric shock to the heart, potentially correcting an irregular heartbeat. She was taken to a local emergency room, where she remained non-responsive as my husband and I began the four-hour journey to her.  Soon, she airlifted to a full-service hospital and put into a near hypothermic state for 24 hours to preserve her brain function. When we arrived two hours later, we were told to hope for the best—but prepare for the worst.

I will never forget the moment our daughter, two days later, opened her eyes. She followed our voices and squeezed our hands. By the afternoon, she was off the breathing machine, sitting up, and eating solid food. And apart from a foggy memory about how she ended up in the hospital, her brain function was normal.

To try and understand what happened to my daughter, tests were run. First, they ruled out any structural issues in her heart, and her neurological results showed no underlying reason for the cardiac arrest.

Oli’s treating electrophysiologist (EP)—a doctor specializing in abnormal heart rhythms—then delved deeper into our family history. In 1972, my dad passed away in his mid-20s from what we were told was a massive heart attack during a gymnastics demonstration. I fainted once while running track, and one of Oli’s sisters fainted during a school dance event. Oli herself had fainted twice previously, both times under stressful conditions.

The EP suspected an inherited arrythmia, an irregular heartbeat condition that runs in a family, and recommended that we all get genetic testing immediately. To protect Oli until we had answers, he fitted her with a subcutaneous defibrillator, which is a device set to deliver a small electrical shock to her heart if she needed it, which could fix an irregular heartbeat. Duly fitted, Oli returned home with us, just in time celebrate the best Thanksgiving ever.

After the holiday, our family duly scheduled genetic testing, and a few weeks later we learned that I and my three daughters have a condition called catecholaminergic polymorphic ventricular tachycardia, or CPVT, an inherited arrhythmia triggered by stressful situations and exercise. If one of our hearts can’t correct itself after going into arrythmia, cardiac arrest is possible.

Thanks to Ambry Genetics, we have an answer. While our condition is rare and frightening, our doctors have told us that it is manageable by medication. We are all now on beta blockers and our subsequent stress tests have shown that we are well controlled by the medicine.

We are so grateful to Ambry Genetics and our healthcare providers for arming us with the information that has helped us take the right steps to protect ourselves. We are strong advocates for CPR and have all now completed—or will soon complete—our CPR training. When it comes to your health, knowledge is truly empowering, and could literally save a life. We encourage anyone who has had unexplained episodes of fainting to please talk to your doctor about possible underlying health conditions that can lead to sudden cardiac arrest, and make sure you know your family history.


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