I was always considered a bright, happy kid, but my gosh was I clumsy! I was constantly tripping over my own feet, and almost all my early photos show a skinny, lanky kid with plasters on her knees. When I was about ten year old things started to become a problem. My first memory of having real joint problems was when I was at a birthday party. I was sitting on the couch and when I moved to get up I was gripped by a terrible pain in my knee, my knee seemed to be completely stuck. I eventually ended up in A&E where I was diagnosed with a dislocated knee. This was to be the first of many dislocations of both knees over the next few years.
I saw the inside of the A&E on a regular basis, but because of it happening so often, I soon learned how to ‘pop’ my knee back in (great party trick). Finally in 1984 I had realignment of my left knee carried out, but it didn’t really work and eventually my knee reverted back to it’s old tricks. By the time I was 14, my back and hips were becoming extremely painful. I was seen on a regular basis by the Orthopaedic dept, but they failed to come up with a proper diagnosis. Sadly as an already insecure teenager, I was told I was probably imagining a lot of the pain, that I should eat more to put on some weight, because I was too skinny for my height, and that most of my issues were just growing pains and attention seeking!!! Looking back now I’m amazed I didn’t completely crack up, I was definitely becoming increasingly paranoid around the medical profession. I was certain they were all against me and that I was just imaging things and looking for sympathy. I think what stopped me from going completely off the rails was my wonderful Mum. She always knew there was something missing in my diagnosis, and sensed that there was an underlying condition going on undiagnosed.
At 16 I left school with no qualifications. Because of all my medical issues I had missed far too much school, and just couldn’t keep up any more. Despite this I still managed to carve out a relatively normal life. I had always wanted to be a nanny so reluctantly Mum supported me in taking the big plunge and heading to Canada as a Nanny for a year. Despite the continuing pain I still managed to have a wonderful time. Funnily the first thing my Canadian family asked me was if all Irish were as tall and thin as me, and they were always commenting on my long fingers and skinny hands. Funnily enough with all the pain issues going on as I was growing up, I never thought much about me height, it was only now when people were commenting (in a positive way) that I realised that I was kind of tall. I actually ended up staying in Canada for 2 years, and would probably have never come home again had it not been for the worsening of my pain in my back and hips and the constant tiredness I was now experiencing.
One year after I came home after yet another visit to A&E, I was visited by a ‘young handsome’ American trained doctor. He started fussing over me, and looking at my hands, and eyes. He hummed and huffed while squinting into my mouth and measuring my arm span and overall height. Finally he asked if I had ever heard of Marfan’s Syndrome. The more we talked the more the light came on, it was as if all my problems were finally fitting into boxes. He felt convinced that I did have Marfan’s but would discuss it further with my Orthopedic specialist. In the meantime we went away to find out about this Marfan thing! I distinctly remember going into the library and reading that very small demoralising paragraph about Marfan’s Syndrome and thinking that my life was over. But in a strange was I was also so relieved to know that I wasn’t going insane, and it wasn’t all in my head. Later after discussion with specialist it was confirmed that I certainly did have Marfan’s Syndrome, mostly effecting my joints but with a slight dilation of the aorta, a high arched palate with teeth crowding and near sightedness (though luckily no lens dislocations).
Unfortunately for me, though probably not surprising, I continued to experience excruciating joint pain all over my body and eventually in order to have any quality of life I had to start using a wheelchair full time. I have found that although a lot of Marfan Syndrome suffers have joint pain, it is very much overlooked as being a minor inconvenience and not as important as the aortic issues. I can certainly agree that looking after the cardiac problems are the most important part of monitoring the condition - after all this is the area that can be life threatening. However I have found that although pain may not be life threatening, it is certainly “life altering” and it takes a lot to cope with on a constant 24/7 basis.
However I refuse to end on a negative note. I have managed to carve out a good life for myself. I am very involved in voluntary work, especially the Wheelchair Association, the Carers Association and of course the Marfan Syndrome Support Group. I also am constantly busy creating hand crafted greeting cards which I sell at craft show, and my house is always alive and comical with the funny antics of 2 dogs and three cats. So as they say “life goes on”