Dianne Langer of Clarenville credits a tiny device called a defibrillator for saving her life - on more than one occasion.
Once implanted into the chest, a defibrillator monitors heart rhythms. If the heart stops, the device can deliver a shock to restart the organ.
"I would have been dead at 49 if I didn't have the defibrillator. I know at least five times when it saved my life," says 56-year-old Langer.
Langer found out she has the gene mutation that causes a genetic heart disease called Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) after her son dropped dead in 2002. Trevor was just 26 years old.
Langer said her son passed a physical exam and was found to be in good health the week before his death.
"He was living in Texas and we (Langer and her husband Ed) were down to visit him. We were only back one day when we got the call," she says.
Dianne and Ed's other son, Bradley, also has the gene mutation. He now has a defibrillator as well.
Four of her seven siblings also have the gene mutation. All have been implanted with defibrillators.
Langer's mother, uncle and cousin died suddenly at an early age from ARVC.
By the time this story is printed another close relative who has tested positive for the gene mutation will have a defibrillator.
Pilot study underway
A Memorial University website on the study of ARVC (www.med.mun.ca/arvc) describes how ARVC-afflicted heart muscle is replaced over time by fibrous and fat-filled tissue which leads to "disordered" electrical activity in the heart and often interferes with the heart's blood pumping action.
In 2008, researchers in Memorial University discovered a genetic change (known as a mutation) in a gene called TMEM43 which causes ARVC.
That discovery came after many years of research, says one of the lead investigators Kathy Hodgkinson.
Hodgkinson is an assistant professor of epidemiology and genetics at Memorial.
"We often get families coming to us because there's been a sudden cardiac death or we've linked them by genealogy but what we are trying to do now is determine how common this gene (mutation) is," she said.
ARVC affects men differently than it does women.
The youngest man to die of ARVC that the researchers are aware of was 19. The youngest woman to lose her life to the disease was 37.
Hodgkinson says it's possible to have the gene mutation and not have any signs that you have the disease.
ARVC can be hidden within a family tree and be passed on, she said.
Hodgkinson and other researchers are now looking to enroll 100 people into a pilot study to determine if they have the genetic change that leads to ARVC.
While anyone with a grandparent from this province is invited to participate in the study, researchers would particularly like to enroll people from the Bonavista Bay and Conception Bay South areas of the province, where the gene mutation is most prevalent.
To date, researchers have found 24 large families in the province affected by the gene mutation.
"Our largest family so far is about 1,200 people across 10 generations, dating back to 1799."
Families in other areas, including Ontario, Demark, and the United States, have also been identified as having the gene mutation.
Hodgkinson says once people are tested and it's found that they have the gene mutation, a defibrillator can help them stay alive.
That will be explained to those who participate in the study and provide a saliva sample for genetic testing.
A geneticist will also explain what the results of the testing could mean if the gene mutation is found, Hodgkinson says, as it has ramifications not only for the participant but for the entire family.
Having gone through her own family tragedies, Langer said it's crucial that people get tested.
"If there is any indication at all that a family may have this, they should go and get tested and get a defibrillator. There's no choice, really. It's either that or sudden death."
Anyone interested in participating in the study can call Charlene at 709-777-6905.