My name is Caroline. I along with three siblings have Marfan’s. Three others are unaffected. My father also had the condition. When I was a child I always knew that there was something wrong. I was very tall for my age and gender and extremely thin. I was also very slow at sports and more times than I can remember I ended up hobbling along with sprained ankles. I had to wear glasses from a very young age and that was when I first heard the word Marfan’s whispered in the background. There was never mention that I may have heart problems.
Years went by and in 1995 my father died from a leaking valve. We were all sent as a family to the Cardiology Department in the Mater Hospital for checks and my younger brother, Gordon and myself were diagnosed with a leaking valve and dilation of the aorta. My oldest brother was diagnosed with slight dilation of the aorta. Gordon suffered ‘Sudden Lung Collapse’ in 1997 and had two lung operations in St. James’s Hospital, Dublin 8 which were very successful and then suddenly on the 6th of March 1999 Gordon passed away from a ruptured aorta. Our family was devastated and will always miss him very much.
A couple of months later I got pregnant and at 20 weeks I went into premature labour. Our little girl, Sarah, survived for five more weeks and was delivered stillborn on the 21st December 1999. It was a very difficult time for my husband and me. Doctors in the National Maternity Hospital informed us that it was an incompetent cervix probably caused by Marfans which resulted in me going into labour prematurely. In January 2000 my Cardiologist informed us that I required ‘Aortic Root Replacement’ and repair to a leaking valve. On the 13th September I underwent surgery which was very successful. This surgery entailed Aortic Root Replacement and the aortic valve was replaced with human tissue.
The following year we decided to try for another baby after discussions with my cardiologist and obstetrician. A suture was inserted at week 14 of the pregnancy and on the 1st March 2002 our little girl Ellen was born into this world a week overdue.
In 2004 we decided to try for a baby sister or brother for Ellen and on the 6th October 2004, Isaac was born after going through the same procedure again by inserting a suture at week 14 and I successfully carried him and had a relatively uncomplicated pregnancy which was very well monitored by both my cardiologist and obstetrician.
It is now twelve years since I had Aortic Root Replacement. When I had this surgery I was told that the value replacement element of the surgery would probably last at least ten years and then would need to be replaced with a mechanical value. I get monitored once a year in the Marfan Syndrome Clinic in the Mater Hospital and as of today my situation remains stable. Personally I hope that this situation remains static as long as possible so that my children will be adolescents before we have to face into it again.
Both my children have been checked in the Cardiology Department of Our Lady’s Hospital in Crumlin and the Eye Department of Temple Street Hospital and they display no signs or symptoms of Marfan syndrome. The next step is to get them genetically tested and this is to take place shortly at Our Lady’s Hospital in Crumlin. Time will tell the outcome of these tests but it looks good for both of them.
For people diagnosed with Marfan syndrome with careful monitoring and surgical intervention when required it is very possible to live a long, happy and very full life.