Standing out (literally) from the crowd ... feeling inherently different .... floating around waiting for a diagnosis. Does this sound familiar?

by Ralph

Reading the other testimonials I have been very moved and feel very lucky following my experience of Marfan syndrome. In response I would like to share my story. Looking back as an adult, I see myself as a classic Marfan floating around waiting for a diagnosis. Growing up I was always baffled by my physical appearance: long thin limbs, sunken chest, braces, thick glasses, a rake thin exterior. I looked completely different from my siblings but I liked the fact that at 6'7" I was taller than everyone else, but that was about it!

Throughout my 20s I gradually settled into my frame, found some better fitting clothes and cooler glasses. I even managed to put a bit of weight on, but the bafflement continued until at 32 following a bout of food poisoning, I collapsed. As with others, my life was saved by a succession of people: my sister who convinced a reluctant on call first responder that I needed to go to hospital; a consultant at Bath Hospital who looking at my appearance twigged that my symptoms might be the result of Marfan syndrome and arranged my first CT scan; the ambulance driver who expertly drove like hell through rush-hour traffic whilst maintaining a conversation with me about one of my favourite subjects - fly fishing. And finally, the Greek surgeon in the Bristol Royal Infirmary who on a Friday evening following a week at work, performed a 10-hour operation through the night to replace my aorta with an artificial valve. I was exceptionally lucky to survive and had this list of chance encounters not occurred I would probably not be here.

I first learnt about the condition when I was recovering in hospital, looking at the symptoms for the first time in my life suddenly everything made sense. I felt like a weight was lifted from my shoulders, vindicated almost! What really baffled was how on earth had I not been diagnosed before, rightly or wrongly I think a can spot potential Marfan a mile off, I want to shout 'Oi you come and join the Marfan club it might save your and your children's lives!' I thought about designing and printing off awareness cards and handing them out to people I thought showed physical symptoms, I never followed through with it as it seems a bit invasive, maybe I should?

Since surgery my yearly MRIs have showed my remaining aorta has stopped expanding for now with the dissection halted, but I expect to require further surgery at some point. Interestingly Marfan syndrome might now have actually saved my life as it inadvertently led to a faster diagnosis of bowel cancer. This was due to being on warfarin and having thinned blood I passed more of it through a bowel tumour leading to a lowered blood count which eventually led to a correct diagnosis. Following surgery and chemotherapy I am currently clear of the disease. On the weekend I found out about my cancer diagnosis I also found out my wife was pregnant for the first time, our beautiful daughter is now a toddler and we've just received genetic confirmation that she has inherited Marfan from me. Along with the wonderful team at Bristol Heart Infirmary we'll be keeping a close eye on her while letting her lead as full a life as possible.

The Marfan Trust is registered in England and Wales under charity number 328070 at c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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