Life is often a motley mix; equal parts pain and joy, failure and success. Meet Alan, a Marfan trouper who has encountered the usual mix of helpful and unhelpful professionals during his lifelong journey with this complex syndrome.

I was born with very long limbs and all the midwife told my mum was "you have another Jack Charlton on your hands".  My parents only started to notice something was wrong when I started toddling, apparently I used to just walk into table and chair legs.  I don't know what happens now but then the doctor just used to pass his hand in front of your eyes and if you followed his hand your eyes were ok.  With a hand so close I could do this even though I was nearly blind.  I was sent to Alder Hey children's hospital for multiple appointments and my mum was told my eyesight should get no worse but also it would never get any better.  In other words I would be nearly blind for life.  They said apart from that there was nothing wrong with me.  My eyesight improved massively and continually up to the age of 16 and no-one can explain why.

When it came time for me to go to primary school my parents had Social Services coming round to the house every week saying I had to go to a special school because of my eyesight.  My mum told them where to go and said I would spend a year at an ordinary school and if I couldn't cope they would look at it again.  The education authority were brilliant in providing magnifying glasses and reading aids and I coped fine.  The only problem was, even sitting right at the front of class, by the time I had focused on the blackboard then looked down to write and so on, I was really slow.  So, at about age eight the Education Authority paid for me to have typing lessons and gave me a typewriter.  This solved the problem completely and throughout life the benefits of being able to touch type have been massive.

Every time I went to an optician they always said my dislocated lenses were classic Marfan Syndrome and use to keep bringing other members of staff in to look at them.  I had no idea what they were talking about and always just presumed Marfan Syndrome was the technical name for what was wrong with my eyes.  The opticians must have presumed I knew what it was all the time.

I stopped growing at the age of 14 when I was 6 foot 7 inches.

I went to university and started work, in my mid twenties my heart rate went completely out of control.  I felt fine but a colleague forced me to go to the works medical centre.  They got me a GP's appointment that evening and he sent me straight to hospital.  A young doctor came round that evening, looked at me and said have you ever heard of Marfan Syndrome.  I said I had as opticians kept telling me that was what was wrong with my eyes.  He then explained that there was a lot more to it than that.  They sorted my heart rate out, put me on medication and also put me on the list for an annual echo cardiogram.  My aorta slowly got bigger and then on one annual scan there was an aneurism  So, at the age of 39 I had valve sparing aortic root replacement  by the brilliant Mr Rashid at Liverpool Heart and Chest Hospital.  I now have a leaking mitral valve, the hospital has switched me to telephone appointments and the last doctor who spoke to me spent under 3 minutes on the phone telling me everything was currently fine, despite me being out of breath after a short walk.  This hospital has gone dramatically down hill since Mr Rashid retired.

I am now suffering from a really bad stomach, headaches, nausea, tiredness, weight gain and a completely dry mouth in the mornings but the GPs are useless and I just get nowhere.  When I mentioned I had Marfan Syndrome to one of them she said “Oh is that to do with the skeleton?”.

So, that's my story, some medical nightmares but some successes.

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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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