Mom and daughter bond over shared rare heart defect

Having a rare form of heart disease would weaken many individuals, in more ways than one.

But, for the Sault’s Jessica Merlino, it has only strengthened an already strong, loving relationship with her daughter Ariella. 

Jessica, 41, a Canada Border Services Agency (CBSA) official, was diagnosed six years ago with Arrhythmogenic right ventricular cardiomyopathy (ARVC), a disease in which fat builds up in the right side of the heart, leaving patients at high risk of sudden death.

Because the rare disease runs in families, daughter Ariella, 13, an Ecole Notre-Dame-du-Sault student, was diagnosed with ARVC four years ago, but she is not experiencing any of the disease’s symptoms, such as fainting, shortness of breath and heart palpitations.

To raise awareness and funds for ARVC research, Jessica and Ariella will be participating in the Heart and Stroke Foundation’s local Mother Daughter Walk Feb. 17.

“It causes a lot of palpitations and very commonly causes cardiac arrest, and because of that I have a defibrillator in my chest,” Jessica told SooToday.

“Once you have a heart attack you’ve got three to five minutes to only be saved by a defibrillator, you can’t be saved by CPR, which is why people diagnosed with ARVC have defibrillators put in immediately,” explained Jessica, who also takes medication to help her.

Jessica said she showed no symptoms until later in life.

“I’m actually very lucky. I was very athletic growing up and should have probably not made it to where I am now.”

“With this disease most people don’t get diagnosed until they’re dead, because there are very minimal symptoms, then they have cardiac arrest and then they do genetic testing to find out why the person died, and then they’ll find it in a sibling or a parent.” 

Jessica said she was misdiagnosed by doctors from the time she was 18 until her early 30s.

“I was 18 and playing basketball for Carleton University and I kept collapsing. They kept taking me to the hospital and just telling me it was anxiety because of being away from home for the first time.”

Later, when Jessica was being physically tested for entrance to the RCMP, she was told she had an arrhythmia.

Doctors thought her brother suffered from Brugada syndrome, a condition which affects the heart’s normal rhythm, but after he suffered a heart attack and was diagnosed with ARVC, Jessica said doctors put two and two together and diagnosed her with the same disease, knowing ARVC runs in families.

Since then, it has been discovered her grandmother carries the ARVC gene but has never exhibited any symptoms.

The case is the same with her father and aunt. 

ARVC is rare, Jessica said, stemming from southern Italy and usually occurring in males.  

“When I was properly diagnosed, I was put on the proper medications and given a defibrillator.”

The insertion of a defibrillator, in London, Ontario, was followed by a three-month recovery period for Jessica, but it has clearly been worth it.

“Since then, I’ve had two heart attacks, but the defibrillator has saved me.”

“Without it, I would have been gone.”

“It works the exact same way an AED (automated external defibrillator) would work, only it’s in my chest.”

The device will eventually have to be replaced with another.

“The defibrillator stops and starts my heart, then it beats normally.”

The first heart attack came when Jessica was riding her bicycle.

“It’s very loud in my ear and it shakes your entire body. It’s like hitting an electrified tree, like a dead stop and a bang, but I didn’t lose consciousness.”

Doctors who specialize in ARVC are based mostly in Italy, Switzerland and London, Ontario.

Doctors at London’s Health Sciences Centre have supplied Jessica with a home device which reads her defibrillator every evening, sending data back to London to be analyzed.

“Anything they notice which they don’t like, they call me.”

“They’ve called me before to say my heart was having a few bad runs and asked me what I was doing.”

Those “bad runs” will happen if Jessica is tired, suffers from the flu or if she gets dehydrated.

Jessica goes to London once a year for tests, and between visits, goes to Sault Area Hospital every six months for a teleconference checkup. 

She does not consume caffeine, alcohol or sugar, no longer participates in sports (while still getting as much exercise as she can) and maintains a regular work schedule for CBSA (no shift work).

“It was scary to see. It’s a huge shock. Her whole body jumps. It’s scary but it saved her life,” said Ariella, who witnessed the second of her mother’s heart attacks at the family cottage.

Ariella also undergoes tests every year in London.

“For us, we’re being very cautious because she plays hockey and is really straining herself, so we make sure every year she gets that medical clearance,” Jessica said.

Ariella, who wants to pursue a career as a pro hockey player, is aware if she begins to show symptoms of ARVC, her athletic activities are over.

“It’s definitely scary. That’s the thing I’m most scared about, is never getting to play hockey again, but I can do other things. It would be a bummer to stop, but I like fishing, hunting, four-wheeling.”

“I feel fine. I play hockey, soccer, basketball and have a lot of schoolwork to do, the same as every other kid. Sometimes I think about it and I get a little scared,” Ariella said, but, like Jessica, she is strong and thinks positively. 

Of her mother, Ariella said “I definitely look up to her.”

“If I go to her with a question, if I’m worried about my heart, she’ll give the right answer and I’ll feel better.”

“For me, the more I talk about it, the better I feel. The more people know, the better. If events like this walk will help people like Ariella, then I’ll do it. It means I’ve done something,” said Jessica, who advises anyone who experiences palpitations to get to hospital immediately.

Sault Area Hospital will not be able to treat ARVC, but an ECG will pick up any abnormalities that can be referred and treated elsewhere, Jessica said.

The worst case scenario for herself, Jessica said, is a heart transplant if her ARVC spreads to the left side of her heart.

The Mother Daughter Walk was, at one time, a provincial fundraiser for the Heart and Stroke Foundation, but was discontinued a few years ago.

“We’ve been given the opportunity to start it up again this year at a local level, and with Ariella and Jessica we’ve got the perfect spokespersons for us, they’re living the dream,” said Dan Ingram, Heart and Stroke Foundation area manager for Sault Ste. Marie and Timmins.

No registration fee is required but, it is hoped, participants will sign up and collect pledges for the non-competitive Mother Daughter Walk, which begins at 10 a.m. (registration at 9 a.m., the walk lasting for about 45 minutes to one hour), Saturday, Feb. 17 at the George Leach Centre.

Funds raised will go toward buying new defibrillators, research for new medication and, hopefully, a cure for ARVC.

“Jessica is living proof of what research has done (through development of defibrillators which can be inserted into a person’s chest),” Ingram said.

“As much as anything else, we want to raise awareness.”

“We know heart disease was once a man’s disease and now more women die of heart disease than men…the treatments were designed for men, and women’s symptoms are different from men. More women die of heart disease than all cancers combined. When you ask women, their biggest concern is breast cancer, but heart disease is much worse,” Ingram said.

“I’m a positive person and I just battle to stay in shape and stay healthy, and I love to promote events like this,” Jessica said.

The Heart and Stroke Foundation's Sault office can be reached by phone at (705) 253-3775.