• Christine's Story

  • A young, mom, career woman talks about her heart

Christine's Story

A young, mom, career woman talks about her heart

Christine was a 30-year-old married woman from Chicago with a beautiful 5-year-old daughter.

But one Tuesday morning, Christine’s life, and those of her family changed forever. She 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. Luckily the medical team saved her life.

The odyssey beginning


Several days later, then fully conscious, Christine was shocked. Her life had been turned upside down with her sudden, wholly unexpected, life-threatening cardiac arrest. 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 heart to malfunction.

Christine’s husband started researching genetics and heart disease.

He dug deep into current medical and scientific literature, looking for access to quality, in-depth, detailed, specialised genetic testing. He found Stripe2Be to be the company that ticked all the boxes through their unique Whole Genome Sequencing (WGS) service.

6 weeks after...

the office had received her details and saliva swab, Christine received her WGS results: a detailed report and analysis of all of her whole genome, but with an extra focus on her cardiovascular system genes.

Using Christine’s Stripe2Be report her geneticist concluded that the identified pathogenic variant of her KCNE3 gene was responsible for her cardiac arrest and diagnosed her with the rare cardiac disease: Brugada Syndrome. Even more specifically, Christine was diagnosed with the life-threatening version: Type 2. Brugada syndrome is a rare condition that affects the way electrical signals pass through the heart.

Although reading the report was a bit overwhelming at first,

it was incredibly informative and provided Christine’s medical team with the information 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 managed electric shocks to her heart if necessary. Now Christine has some protection from ventricular tachycardia, ventricular fibrillation, and possible cardiac arrest.

Christine's family future

The report had also pointed out that there was a 50% chance that her daughter might also have Brugada syndrome so Christine and her husband decided to screen their daughter to find out if she carried the same genetic variant as her mom. Fortunately; her daughter’s genome analysis showed that she wasn’t a carrier and so wouldn’t ever develop the disease. A real relief!

People who find a diagnosys with a our test

Angela

Little child, rare epilepsy GLUT-1 deficiency syndrome

Read more

Christine

Mom and career woman, cardiovascular mutations

Read More

Johannes

Complex family health history, two predisposition to minimize

Read more

our ambassadors for dazzle4rare week 2021

Alan

Dazzle4rare 2021 Ambassador

Ataxia

Meet Alan

Jessica

Dazzle4rare 2021 Ambassador, Mother

Syngap

Meet Jessica

John

Dazzle4rare 2021 Ambassador

Ehlers-Danlos Syndrome

Meet John

Analyze your entire DNA with a Stripe2be test

€ 500,00

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.