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Marfan Syndrome affects 50,000 Americans

HOLLYWOOD, Fla. – Marfan Syndrome is a genetic heart condition that affects males and females equally.

When Tarra Cortez’s husband Ozzie was diagnosed with the condition in 2015 the couple wasn’t actually surprised.

“It wasn’t a shocker, it was more like a confirmation,” she said.

Their oldest son, Zayden, has also tested positive for the same gene mutation of the disease; their youngest son, Xavier, did not.

“When we had children, we knew there was a 50/50 chance of them having Marfan Syndrome, but it was a risk we were willing to take,” Cortez said.

Dr. Roman Yusupov, a medical geneticist and director of the Marfan Clinic at Joe DiMaggio Children’s Hospital, said the condition is a connective tissue disorder that can cause an enlargement of the aorta.

“And you don’t know about it because you don’t have any symptoms and, unfortunately, it can create an aneurysm and it can rupture causing sudden death,” he said.

Yusupov said Marfan Syndrome occurs in one in 20,000 live births, equally in all races and ethnicities.

“If there is family history, genetic testing can be done, even prenatally, but on a newborn baby, frequently we discover that somebody may have Marfan Syndrome after about 5 years of age or older, in adolescence,” said Yusupov.

That’s when the external signs of Marfan Syndrome become more evident, including long limbs.

“I’m bigger than every other 7 year old,” Zayden said.

His father has gone through four open-heart surgeries, but the couple is hoping early intervention will help their son avoid similar serious complications.

“At 7 his aorta is already enlarged, at five it was the size of a 12-year-old’s,” Cortez said.

Along with routine doctor visits and diagnostic tests, Zayden takes daily medication to slow the growth of his aorta.

“I have to take medicine every day and I put my pills in my chocolate because my pills taste very dusty,” he said.

“We’re trying to stop all the things that dad has had to go through, which is we’re lucky he’s here today and we want to stop all of those things from happening to our son,” his mother said.

Research that could lead to a cure for Marfan Syndrome is advancing rapidly, thanks in part due to money raised for research during the annual South Florida Marfan Walk in May.

For information on how to support the effort go to Marfan.org/WalkSouthFlorida21


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