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Screening and breakthrough offering hope for cardiomyopathy

Posted at 5:14 PM, Nov 11, 2017

Losing a child to an undiagnosed heart condition is, in so many words, heartbreaking. But doctors may be close to preventing one type of heart disease before it even starts. It's giving hope to families fighting to overcome tragedy.

Lisa Pardington's son Max was training for an Iron Man competition the day she last heard his voice.

"I called after he had worked out and he said, 'Mom my heart is racing,'" Pardington remembers. "And those words changed my life forever."

That night Max went to sleep and never woke up.

"It's the worst day," Pardington says. "It's every parent's nightmare and we are living it every day."

Max had cardiomyopathy, a disease in which the heart muscle is abnormally enlarged, thickened or stiffened. It's often genetic and is the most common cause of sudden death in young athletes.

"He played all kinds of sports but never did we know that Max had a heart condition until he passed away," Pardington says.

Since most school physicals don't check for it, Beaumont Healthorganized a free Student Heart Check where doctors and volunteers are screening teens for the disease, before it's too late.

"It makes you feel good about what you do because I know we have saved lives coming to these events," says Beaumont cardiologist Dr. Steven Almany.

Lori Herbert lost her son Anthony to the disease, and decided to become active in the program.

"I know if he could he would want us to save lives," Herbert says. "Not a minute goes by that I don't think of him."

Anthony was a member of the Northern Michigan University football team when he passed away.

"He had just come back from conditioning that morning, went to breakfast and then went back to his dorm with his roommate and was going to watch a movie before their first day of classes," Herbert says. "And that's when he became unresponsive and went into sudden cardiac arrest." 

First responders tried to save him but couldn't.

"It didn't feel real," Herbert says. "It was just a nightmare. I mean he was eight hours away from us and there was absolutely nothing we could do."

Herbert says they had never heard of the screenings done at the Student Heart Check during any physicals. That's why they hope heart check events like these spread to other cities across the country. 

"We knew we couldn't bring Anthony back but we wanted to hopefully keep other parents from having to endure what we had to endure," Herbert says. "I'm not going to lie, I wish that we could've gotten him to a screening and still had him here with us."

But what if there were a way to prevent cardiomyopathy in children in their mother's womb before it even started to develop? Doctors at the Oregon health and Science University began researching that possibility.

Dr. Sanjiv Kaul worked with researchers who were able to cut out the defective gene when they fertilized an egg in a lab.

"Yes everybody here was surprised," says Kaul, CEO of the Knight Cardiovascular Institute. "Then the cells repaired normally by themselves. We were amazed. It's like science fiction."

While it hasn't been tested in humans, Kaul says potentially all cells after that one would be free of the abnormal gene.

"So, theoretically, in one generation we can remove this defect from the entire generation."

While there's concern this technology could be used to create so-called "designer babies," Kaul believes with regulation, the research offers hope.

"Talking to a parent that lost a child I would have done anything in the world to save my son's life," Pardington says.

Adding one more layer to the effort to keep children healthy and alive.