Posted at: 08/06/2009 7:00 PM
By: Sarah Swistak

Marfan Syndrome

(ABC 6 NEWS) -- Marfan syndrome is a relatively rare condition, but if it goes undiagnosed, it can be deadly.

Kevin Mahony says everything was going great, until all of a sudden.

"I couldn't breathe and the next thing I know, I woke up on a respirator and they had to bring me back to life. I died in the ER," says Kevin Mahony.

Kevin was diagnosed with Marfan's syndrome back in 1978, when he was just 18.

"I didn't know the severity of it. My parents didn't want me to know that, so they didn't tell me," Kevin says.

Marfan syndrome is a somewhat rare genetic disorder characterized by extreme height, eye and lung problems, scoliosis and hyper-mobility of the joints.

"Is this condition missed? Absolutely," says Dr. Charles Bruce.

And that's where the danger lies.

"Patients often appear otherwise well, and it's the silent swelling of the aorta, the blood vessel that really is the most crucial aspect of this condition," says Dr. Bruce.

And if the aorta ruptures, Dr. Charles Bruce says you don't have much time.

"You lose blood very quickly and so the opportunity for you to get medical care, so you can have it remedied is unlikely," says Dr. Bruce.

Only one in every five thousand people have Marfan syndrome.

Now several of them are converging on the Mayo Clinic for a national conference.

"It really is a unique conference for me, it's one of those special conferences that makes me feel so good to be a doctor," says Dr. Bruce.

Attendees get free echocardiographs to monitor changes in their aorta, meet with some of the best physicians in the world, and most importantly interact with people who are just like them.

"This is an opportunity for the Marfan's community to get together - children to see that they're not so unusual," says Dr. Bruce.

Kevin has had three open-heart surgeries, two eye surgeries and a defibrillator installed for his Marfan's.

And all three of his children have inherited it, but he still considers himself blessed.

"It�s not a disease that you die with. It�s a disease that you live with," says Bill�s wife Alesia.

Mayo clinic is hosting the 25th annual conference for the National Marfan Foundation, which starts Thursday and runs through the ninth.