On August 10th, 1995, Jillian Janiel rode her bike home after spending the night at a friend’s house. She was greeted by neighbours with grim faces when she pedaled into the driveway. Her 14-year old brother had collapsed after being awoken by his alarm clock. He was, they explained, gone to the hospital via ambulance.
Her parents returned soon after but her brother did not. He had died. No one could tell the family why her brother had died at such a young age, even after an autopsy. That was, not until Jillian herself almost died two years later. “I was awakened by a phone call from one of my best friends to go watch a race they were running in. As I went to ask my parents if I could go, I remember my father yelling, “No! NO! Not again!” When I came to after being resuscitated, my friend was still on the other line, and she was screaming. I was 14 years old.”
It is a condition that can show itself at any age, even before birth. Researchers suspect that LQTS is the cause of up to 15 per cent of all Sudden Infant Death Syndrome (SIDS) cases.
Janiel describes what it was like to be a teenager with this life threatening condition. “I was outcast, not bullied thankfully, but just outcast,” says Janiel. “I felt like everyone saw me as a person who couldn’t go do anything because I might die.”
It took months and incorrect diagnoses of epilepsy and low blood pressure before the doctors properly diagnosed Janiel with hereditary Long QT Syndrome (LQTS). People with LQTS’ hearts can go into a dangerous abnormal heart rhythm known as Torsades de Pointes. This heart rhythm can cause the heart to beat so fast that it stops working and the person faints or has a seizure. If the rhythm goes on to long, the heart will stop completely. This is known as sudden cardiac arrest (SCA).
LQTS needs to be treated. Over 50 percent of people with symptoms of LQTS will die in the ten years after their diagnosis if left untreated. With proper treatment, that number drops to less than 10 percent. The majority of people with LQTS will live long, normal lives after diagnosis and treatment.
Janiel began the standard treatment for people with LQTS. She was given beta blockers and told to avoid sports, loud noises, and swimming. Several years later, because of her brother’s sudden death at 14, she was implanted with an internal cardio defibrillator (ICD) that will shock her heart if it every goes into the deadly rhythm again.
Each child of a parent with LQTS has a 50 percent chance of inheriting the condition. In Janiel’s case, she inherited the faulty gene from her father. Today, Janiel is the mother of two young children who also have LQTS, Lyla is 2 and Corbin is 5. Both were diagnosed at birth using genetic testing and have been on medications ever since.
Being a parent of a child with LQTS causes “a lot of anxiety, disbelief, [and] blame,” says Janiel. “I blame myself [for them having it]. I say it all the time, and my husband tells me not to. It’s very easy to… because, well it is my fault.”
Sherri Lynne,46, also has two children with LQTS. Like Janiel, her children were diagnosed after Lynne. Lynne’s diagnosis was a shock for the family, coming after she suffered several cardiac arrests.
“I’m a triple sudden cardiac arrest survivor. I was 46 years old and had a kidney stone. Following surgery I went into cardiac arrest,” says Lynne. “Eleven months later it was determined I had LQTS… my life was forever altered… Not only did I have to come to terms with my diagnosis but also the possibility I’d passed it on to my children.”
Like Janiel, Lynne also worries about her kids. The worst thing, she says, “as a parent to a child with long qt is the fear. Never knowing if something will adversely affect them. The uncertainty brings anxiety.”
Kids with LQTS also often have a lot of anxiety. Lynne’s daughter, Alexis, recently began to have symptoms. “The anxiety, the insomnia, the fear is present with Alexis every day. [She is]… afraid to ride her bike or cross the road.”
Alexis will probably never faint or go into cardiac arrest because of LQTS even if it is her biggest fear right now. Parents of these kids know that the odds are in their favour, but they prepare just in case the worst does happen. Children usually have an emergency plan on file at school and many families choose to purchase Automated External Defibrillators (AEDs) for their families. They share their kid’s condition with friends and family.
“I know that I will have to hold coffee parties and invite parents over to learn how to use the AED and be prepared for the worst,” says Janiel. “I love to bake, so bring them on over! But if they can’t accept what may happen, then they can’t be in our lives.”
At the end of the day, however, kids with LQTS are just, well, normal kids and their parents have the normal hopes for their children.
“I strongly believe in having my kids live their lives. There will be no bubble wrap, no cotton swaddling, they need to experience to grow, to live. My job as a parent is to have them grow into happy healthy functioning contributing members of society,” explains Lynne. “This was my view before long qt, it’s my view with long qt, just a few extra precautions thrown in along the way.”