little child, rare epilepsy GLUT-1 deficiency syndrome
mom and career woman, cardiovascular mutations
complex family health history, two predisposition
Patient Advocacy Manager for Stripe2be, Epilepsy
Dazzle4rare 2021 Ambasciator, Ataxia
Dazzle4rare 2021 Ambasciator, Mother, Syngap
Dazzle4rare 2021 Ambasciator, Ehlers-Danlos
Christine was a 30-year-old married woman from Chicago with a beautiful 5-year-old daughter.
Life was good! But, one Tuesday morning, Christine’s life, and those of her family changed forever.
Lives changed forever
Christine had dropped her daughter off at school and then driven off on to work. Everything seemed normal, until 10 minutes after sitting down at her desk, she collapsed and went into cardiac arrest.
Christine’s colleagues quickly called an ambulance, which took her to the nearest hospital. She slipped into a coma, but the medical teams saved her life.
Several days later, then fully conscious, Christine was shocked. Her life had been turned upside down. The medical team started to discuss potential genetic causes and performed numerous, commonly performed medical tests on her - none of which showed any abnormalities or provided her with any diagnosis. They just couldn’t find out what had caused her cardiac arrest.
The genetic search
Christine’s husband decided to start learning more about genetics and heart diseases
He dug deep into current medical and scientific research and sought out the genetic tests available. He found Dante
Labs to be the company providing the most detailed, extensive genetic testing service: Whole Genome
Genetic results & diagnosis
6 weeks after her details and saliva swab were received,Christine received her WGS results from Dante Labs. A detailed report and an analysis of all of her cardiovascular system genes were provided. Using the report, with the help of a geneticist, a pathogenic variant in her KCNE3 gene was found and identified as responsible for her cardiac arrest. Christine had the rare genetic cardiac disease: Brugada Syndrome Even more specifically, Christine had the life-threatening version; Type 2.
Information about the diagnosis
Brugada syndrome is a rare but serious condition that affects the way electrical signals pass through the heart, causing ventricular fibrillation (the heart to beat dangerously fast), and an increased risk of Sudden Cardiac Death (SCD).
Value of the Stripe2Be test
Although reading the report was overwhelming at first, it was incredibly informative and provided Christine’s medical team with the information that they needed to save her life. She went on to have an Implantable Cardioverter-Defibrillator (ICD) surgically placed into her chest to monitor her heart rhythm, detect any irregular heartbeats, and deliver electric shocks to her heart if necessary. Now Christine has some protection from ventricular tachycardia, ventricular fibrillation, and possible cardiac arrest.
Christine’s report had also pointed out that there was a 50% chance that her daughter might also have Brugada syndrome. Christine and her husband decided to screen their daughter to find out if she carried the same genetic mutation as her mom. Thank goodness; her daughter’s genome analysis showed that she wasn’t a carrier and so wouldn’t ever develop the disease.
The value of WGS
So many life-threatening, genetic diseases are hidden and show no symptoms until they become life threatening. Lots of people don’t know that they are carriers of a genetic disease - such as Brugada Syndrome. There’s a real need for us to raise awareness of how crucial genetic screening is for everyone. Having a diagnosis can help you live a better, healthier, happier life.
Analyze your entire DNA with a Stripe2be test
At Stripe2Be we provide Whole Genome Sequencing (WGS), analyzing 100% of your DNA. It is the most comprehensive, detailed type of genetic test available. We break down your WGS data into 5 easier-to-read reports which are all about your individual Stripes.