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Christine's Story

User blog

Andrea Riposati

Christine's Story

“ Too many people assume that being young and fit means that you can’t possibly have a cardiac issue. There is a big need to raise need to raise the importance of genetic screening for anyone. Given the hidden nature of some genetic conditions, such as Brugada Syndrome, a person may not known to be a carrier of a life-threatening cardiac condition. Knowing that can change lives..

 Christine is a 30 years old married woman with a beautiful 5 years old daughter. She had a happy life until last year, when, on a Tuesday morning, her life and the life of her family totally changed, forever!

After having getting ready for work and bringing her 5 years old son at school, she got to the office at 9:00 am and, after 10 minutes, she collapsed at her desk. Christine had just suffered a cardiac arrest.

 Luckily, she was promptly dispatched from a local Ambulance Station to the nearest hospital of Chicago where doctors managed to save her life from the coma.

Several days and numerous tests later, Christine didn’t have a final diagnosis. She was in status of shock for what had happened and felt her world being totally turned upside down without knowing the cause of all.

Doctors started to talk about genetics, but no cause was identified with common tests.

After this shocking event, Christine’s husband decided to start learning more about genetics and heart diseases and, with the purpose to dig deeper into innovative services, he identified Dante Labs as the reliable provider for running the most complete genetic testing out of the market, the Whole Genome Sequencing.

After 6 weeks of anxious waiting, the results came through. A special broad analysis related to all the genes expressed in the cardiovascular system was performed and, with the help of a genetic specialist, a pathogenic variant in the KCNE3 gene was found.

The results caught Brugada Syndrome, a rare cardiac genetic syndrome. Specifically, the diagnosis was for the Type 2, a life-threatening cardiac condition that is not shown up routinely by way of a general ECG.

Even though that information was exhausting at a psychological level, finally, it revealed to be tremendously informative.

After getting the diagnosis, doctors agreed to install an Implanted Cardioverter-Defibrillators, known as an ICD. The device is now protecting Christine from any further potential episodes of ventricular tachycardia and/or ventricular fibrillation leading to possible cardiac arrest.

Moreover, since the syndrome has a 50% chance of being passed down to her kids, Christine and her husband decided to screen their daughter to confirm whether she was also carried  of the gene fault and thereby to have confirmation whether she was affected by Brugada Syndrome too. Fortunately, the genome analysis revealed negative results.