Monday, 6 February 2017

Marfan Syndrome | My Story Pt.1

This month is Marfan Syndrome Awareness Month and I've been busy for weeks preparing for it but whilst I was brainstorming I realised that I had never actually told my full Marfan story on here. You've heard bits and pieces about my recent experiences with surgery, chronic pain and disability but I've never actually told my story from the beginning. Since it's awareness month this is probably the best time to do it! I was going to just do one post but turns out my story is quite long so I've had to split it in half, still though you might want to grab a cuppa and some biscuits for this post, it's going to be a long one.

For those of you who have never read a post about Marfan on my blog before here's just a little about the condition, but I'd also recommend reading my information page about it.

Marfan Syndrome is a rare genetic connective tissue disorder that can affect the whole body, everything from the heart to the joints. The connective tissues in Marfan are too stretchy and these can lead to a whole host of problems, including life threatening heart abnormalities. Some of the signs and symptoms of the condition include being tall and slim with long arms, legs and fingers, having hypermobile joints, scoliosis, aortic aneurysms, skeletal & breastbone deformities and eye problems such as lens dislocation and early glaucoma and cataracts.

I was diagnosed with Marfan Syndrome as a baby but my Mum says that she was pretty sure that I had it before I was even born due to seeing my long arms and legs on ultrasound scans. She knew she had Marfan because she had inherited it from her Father who unfortunately passed away when she was just 7 years old, he died from an aortic dissection which is a problem associated with Marfan Syndrome. Her brother also had the condition but again he passed away from aortic dissection when he was young as well.

My Grandad holding my Mum and my Uncle

'Joint hypermobility and pains became part of my life.'

When I was born my Mum's suspicions came true as it was clear that I definitely showed some of the signs and symptoms and an ultrasound scan of my heart when I was a toddler confirmed the diagnosis since my aorta was a little too big for my age and size. As I grew up into a seemingly energetic child more symptoms started popping up, joint hypermobility and pains became part of my daily life, I could deal with that though. But, I struggled to deal with the bullying at school. Marfan makes me quite slim, especially my arms and legs, and kids saw that before I did. The comments of 'you look anorexic' began and I tried and tried to explain that I had a rare condition but they didn't listen. Needing days off school for hospital appointments didn't make that side of things any better either and but it finally stopped when my health declined and became more serious.

In the above photos you can see my Marfan features including long limbs and scoliosis (curved spine)

'I was booked in for spinal fusion surgery where they would use metal rods and screws to straighten my spine.'

When I was a young teenager I was diagnosed with Scoliosis, this is the sideways curvature of the spine, at first my curve was only 27 degrees which was mild and manageable. It was monitored with regular x-rays but suddenly when I was 15 and starting my second GCSE year my back pain got considerably worse. I was booked in for spinal fusion surgery where they would use metal rods and screws to straighten my spine. My surgery date was just after my GCSEs had finished so I could have the surgery and be recovered enough to start my A Levels in September, that didn't go quite to plan though. I went into hospital the night before and everything went forward as it should, having blood taken etc. However, when I woke in the morning things went downhill. At first we were told that my surgery would be delayed due to my surgeon having a personal incident to deal with, I was meant to be first on the list and it was around midday by the time we were being told this. Hours went by and as far as we were aware the surgery would be going ahead, just a little later than expected. Then a messenger arrived to tell me that the surgery was cancelled because the anaesthetists were concerned about my heart problems. The heart problems that they were informed about at my pre-op assessment, problems that they said weren't an issue and they were happy to proceed. Suddenly they were speaking like they had never even heard of my heart problems before though and requested that I see my cardiologist before we even set another date. I was only 15 at the time, in tons of pain, extremely hungry after not eating for about 18 hours and all I wanted was the surgery I'd came for. Tears followed,  a lot of tears but there was nothing I could do and I knew that it was unlikely I'd get my surgery before school started again.

I was given a new surgery date for the start of December which meant that I would need to take at least about 6 weeks off school to recover, not ideal but I was ready to try and get through it all. This time round things went to plan and I was taken down to surgery at about 1pm and was in recovery at about 7pm, heading to the High Dependency Unit soon after. I wrote a diary style post all about the week I spent in hospital that goes into detail about standing up for the first time, walking again etc. Unfortunately that week in hospital didn't go as smooth as we expected though as on Day 7 I started having problems. I woke up during the night with excruciating pains in my right leg, I had never experienced pain like it and I was crying my eyes out. I saw the physio about it and they iced my leg and gave me some exercises to do, assuming that it was probably a soft tissue problem, unrelated to the surgery basically. The pain was worse when sitting and standing so my recovery went backwards, I was certain that the pain was nerve related but my surgeon didn't agree at the time.

'I woke up during the night with excruciating pains in my right leg.'

The pain continued and my recovery paused completely since I was struggling to even sit up long enough to eat. I didn't return to school after 6 weeks and my school were pretty useless actually, not even sending me work home. It wasn't until my 6 month follow up that my surgeon started believing that my pain might be a bigger issue and I finally had some scans. A CT scan revealed that a screw was sitting on a nerve, nerve pain as I had predicted, and I was put on the waiting list to have the screw replaced and re-positioned. I was happy that the issue was going to be solved but I also hadn't prepared myself that I might need further surgery, as far as I was aware all I had to do was have this big surgery and then all would be fine. I had the second surgery in September, nearly a year after the first surgery, and thankfully it was a success. It was a smaller surgery but it was still tough, I wrote a post all about it at one month post op and I even mention having problems with my hips in that post, little did I know what was just around the corner.

That's it for this post, look out for part two which will go up next week!


  1. Thank you so much for sharing your story! I'm glad that you managed to get your surgery done in the end, even if there were complications. It must have been so frustrating to be ignored by your surgeon, but at least they took you seriously in the end

    Steph -

    1. It really was frustrating, sometimes I think doctors just need to trust that patients know their body and know when something is wrong! x

  2. I didn't realize how much people with Marfan Syndrome go through, I'm so sorry, that must have been tough! Makes sense to describe why you're so tough and wiser than your years now though! xx

    1. A lot of people, even doctors, don't realise the extent of the problems that people with Marfan can get. Thank you so much xx

  3. You've been through an awful lot and it's still a long journey by the sounds of things? Thank you for educating, as I had never heard of this before? I'm hyper-mobile, have a crumbling disc in my lower back and have hip dysplasia as well as bilateral labral tears of both hips joints. I had to really fight with my doctors to get an initial x-ray after being told that "we'll do one, but there's not much point as we won't find anything". I got a phone call less than 24hrs later saying I had to go back in and see them! Like you said, you know your own body and when something isn't right!

    All the best to you xx

    1. There definitely is a still a long journey ahead for me but I'm taking it day by day! So sorry you went through something similar, I find that they just dismiss young people potentially having problems that would mainly affect the older generatio, for example, hip problems! I hope you are doing okay now xxx


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