‘We diagnosed my son’s condition just in time’

PAUL could bend it like Beckham. He was tall, slim and his double-jointed physique meant he always had a few party tricks up his sleeve. He died suddenly aged 24.

Chris Matthews was six when his father Paul died in 1989.Chris’s mother Jo Gore was at a loss to know why. Apart from his height, long slender fingers and an indentation in his sternum, Paul seemed healthy. It took a while to find out that he had died of an aortic dissection, a complication of Marfan syndrome.

It was too late to do anything for Paul by the time Jo learned about the condition. But concerned that her son, who was very like his father, may be at risk, she went to her GP. He assured her it was not hereditary and that Chris could continue with his karate lessons. Unconvinced, Jo contacted the Marfan Association UK.

“I was shocked to read that Marfans could be hereditary and that there were certain tests that would need to be carried out to ascertain if Chris had it or not. None of these had been recommended to us. I changed GPs to a really helpful new doctor, who immediately referred Chris to Our Lady’s Hospital for Sick Children in Crumlin,” says Jo.

Chris had an echo-cardiogram, X-rays of his hands, a slit-lamp eye test and family medical history taken.

He had always had quite flexible joints and was quite tall and slim. His sternum protruded very slightly, he had a very high palate and crooked teeth. He also suffered from tiredness, a weak hip and slight club foot at birth and bad asthma. Chris was diagnosed with Marfans.

“However, it was reassuring to know that careful regular monitoring of Chris every year in Crumlin would improve his prognosis,” Jo said.

“As a result of these annual checks and in particular, echoes of his aorta, we were aware eventually Chris would need surgery to repair the widening of his aortic root.” At 18 Chris was told he would need an aortic resection.

“That autumn, we were told of the possibility of the surgery being carried out in the well-known Johns Hopkins Hospital in Baltimore, USA. They have a lot of expertise in this type of surgery, with people with Marfans, as did the surgeon.

“Chris was pleased at the thought of going to the USA but we were terrified, having never been abroad before. Even more terrifying was when the whole thing was postponed after September 11. Fortunately, we eventually got going in November 2001. Chris had a very successful “valve sparing” aortic resection and made an amazing speedy recovery.

The good news is that today, while 20-year-old Chris must avoid contact sports like karate, two years post-op he feels great. He’s been to college and works full time and enjoys a hectic social life. He still attends for annual check ups, but in the Mater now. The only medication he needs is one beta-blocker every morning. Chris is one of the lucky ones.

lThe Marfan Syndrome Support Group is launching its website on September 27 in the Harcourt Hotel. More information at www.marfan.ie