Jo's Story

In 1989, Paul, the father of my then six year old son, died suddenly.  It took a while to find out that he had died of an aortic dissection, a complication of Marfan Syndrome.  He was only 24 years of age.  He had always been tall and slim, but not unusually so.  He was double jointed (and had a few party tricks which never ceased to amaze!) had a deep indentation in his sternum and long slender fingers.

I was concerned that, as Chris was so like his father, that he could also be at risk.  I discussed this with my and Paul’s G.P.., who assured me not to worry and there was nothing wrong with Chris, there was no heritable condition and of course he could continue with Karate!  Meanwhile I had contacted Marfan Association UK who, thankfully, sent me lots of relevant information on Marfan’s up until then.  I was shocked to read that Marfan’s 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 G.P.s to a really  helpful new doctor, who immediately referred Chris to Our Lady’s Hospital for Sick Children in Crumlin.  He had an echo-cardiogram, x-rays of his hands, a slit lamp eye test and family and medical history taken.  Chris 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.  Apart from minor health problems (tiredness, click’ hip and slight club foot at birth|) and bad asthma, he was generally well.

It was not a big surprise when we were told that Chris did have Marfan’s.  However it was reassuring to know that careful regular monitoring of Chris every year in Crumlin would improve his prognosis.  As a result of these annual checks and in particular, echo’s of his aorta, we were all aware that eventually Chris would need surgery to repair the widening of his aortic root.

However we really didn’t think he would need it so young.  At 18 years of age, Chris was told he would need an aortic resection.  It seemed so strange as Chris was always so well, with no particular complaints.  His aortic valve was only mildly incompetent so he didn’t feel any cardiac symptoms.  Over the years, he had actually become less flexible in his joints, only had a very slight scoliosis (10%), was very slightly near sighted, was just over 6 ft and thanks to the Dublin Dental Hospital and NEHB he had a perfect smile.  This reflects the silent danger that can exist for people with undiagnosed Marfan’s.  Its sad to say, but we know that if Chris’s father hadn’t died, we would never have known of this potential life threatening condition in Chris.  Marfan’s is so variable in each person, and it can so easily go un-noticed.

Chris was waiting from March for his surgery, which like many others was delayed.  This was due to a lack of intensive care beds and nurses, theatre space, and lack of funding by the Dept of Health.  As I’m sure you can imagine, this was a tense time for us all, although we received a lot of support and care from the Cardiology Team in Crumlin.  That autumn, we were told of the possibility of surgery being carried out in the well known Johns Hopkins Hospital in Baltimore, U.S.A.  They have a lot of expertise in this type of surgery, with people with Marfan’s, as did the surgeon Professor Redmond.  Chris was pleased at the thought of going to the USA but we were terrified, having never been abroad before and at the thought of such a serious operation, so far from home and without the support of family and friends.  Even more terrifying was when the whole thing was post-poned after the awful events of September 11th.  (Now we were really terrified!).  Fortunately, we eventually got going in November 2001.  The facilities and staff were excellent and we were cared for really well, especially by the Cardiac Liaison Nurses from Crumlin, Helene and Kathleen.  Chris had a very successful “valve sparing” aortic resection and mad an amazing speedy recovery and we were back home within 10 days.

Well, the good news it that today, Chris 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.

So you can see, having Marfan’s is different for everyone.  It does mean regular check ups, being assertive in accessing your right to the best care, it may mean surgery, it does mean being aware of your self, taking care and enjoying each day that you have.  I would say to anyone to find out as much as you can about it and use your friends, health care professionals and support groups to help you understand it.  The worse thing is not knowing!