By Shona Louise

Ever since I’ve been able to understand my rare genetic condition I’ve spent as much of my time as possible researching it, educating myself whenever I can because when you have something that is uncommon you have no choice but to. Marfan Syndrome is the name of my condition and February is the awareness month for it, as well as it being Rare Disease Day on the 28 and my condition is just one of over 6,000 different rare conditions that affect people across the world. Whilst Marfan is rare though it isn’t a one in a million kind of condition but that doesn’t mean that every doctor I see has heard of it either.

So, what exactly is Marfan Syndrome?

Quite simply it is a disorder of the body’s connective tissues and you can think of these tissues as being the body’s glue, it helps to hold cells, organs and other tissues together giving the body stability. When these tissues are faulty in some way it can result in many different symptoms and in regards to Marfan there are some characteristics and signs that are frequently associated with it. Typically people with Marfan will be tall and slim with long arms, legs and fingers as well as perhaps having hypermobile joints, scoliosis, breastbone deformities, flat feet, crowded teeth and problems with the heart, mainly the aorta. However, it is possible to have Marfan despite not having every or even most of these symptoms, as you can imagine this means that sometimes people don’t get diagnosed until late into their lives and it’s thought that the average lifespan of someone undiagnosed could perhaps be only about 40-50 years. I’m trying to change that though and I use my own personal experiences to try and raise awareness of Marfan Syndrome through my blog and social media platforms.

‘During a 6 hour operation they used metal rods and screws to straighten my spine.’

Over the years I’ve talked about my health and disability a lot on my blog, Shona Louise, as when my health declined in my teens I found it a great place to vent my emotions. I was diagnosed with Marfan as a baby/toddler though, my Mum knew she had the condition because sadly her Dad had passed away from the heart complications when she was just 7 years old. It meant that I was able to get an early diagnosis though and monitoring of my heart, eyes and joints could begin. When I was a child I suffered with joint hypermobility and pains but it was in my early teens that I received my first secondary diagnosis, Scoliosis. This is the sideways curvature of the spine and at first my curve a C shape and only mild, about 27 degrees, but it quickly progressed and I found myself in a lot of back pain and struggling with school in my GCSE year, missing 7-10 days of school at a time sometimes. X-Rays revealed that my curve had increased to about 50 degrees, the point at which they consider surgery and my pain meant that it was a no brainer for my surgeons and I was put on the list. I was 16 when during a 6 hour operation they used metal rods and screws to straighten my spine, unfortunately things didn’t go quite to plan though and a CT scan 6 months after the original surgery revealed that one of the screws was sitting on a nerve. This was causing me horrible nerve pain in my right leg so almost a year after the first operation I found myself in the operating theatre again, this time I had the screw removed and replaced. Thankfully that seemed to solve the problem and I was sure that I could return back to ‘normal’ life.

‘At the age of just 18 I found myself on a ward full of elderly people waiting to have a hip replacement!’

My idea of normal didn’t last long though and my back pain start to creep back up again and I had pains in my both of my hips so the investigative process started again. Luckily the problem was revealed quickly, x-rays showed that I had another secondary condition thanks to Marfan Syndrome, bilateral protusio acetabuli. It’s a complicated name but simply it means that my hip sockets, in both hips, are too deep which has lead to what is effectively early arthritis. I was told that both hips would need replacing but it was the right one that needed attention first as there was only a few millimetres of bone in my socket left to support my leg. So, at the age of just 18 I found myself on a ward full of elderly people waiting to have a hip replacement! Compared to my previous surgeries the stay in hospital was easier and less painful but the recovery was tricky because you have a lot of restrictions to stick to afterwards for about 8-12 weeks, that’s what I found to be most difficult.

‘A large 5.5cm Tarlov Cyst was sitting in my sacrum.’

After that I was sure that Marfan was going to give me a break but I don’t think there is such a thing as a break when you have a multisystemic condition! It was back to my spine this time as during the whole process of looking into my hips, having surgery etc I was having ever increasing lower back pain. I was using a wheelchair most of the time by that point and by the time I actually had a diagnosis I was beginning to use a powerchair too. Finally after months of questions though we found out that I had another secondary condition, a large 5.5cm tarlov cyst was sitting in sacrum (triangular bone at the bottom of the lumbar spine). A tarlov cyst is the dilation of a nerve root, an abnormal sac that fills with spinal fluid that can rapidly progress whilst causing pain. The cyst was also so large that it has eroded away a significant portion of my sacrum, contributing even further to my severe chronic pain. It means that I can only walk around my house on my crutches a few metres at a time and the rest of the time I’m in my powerchair but the pain also worsens when I’m sat up so I’m even limited on how long I can use my powerchair for. Unfortunately I’ve been denied surgery on the cyst, despite it limiting my life so much, but I try and focus on the positive things that has come out of these bad experiences in life too.

‘I’ve gained a huge support community around me.’

I’ve actually written a whole blog post before on my personal blog about the good things that have come out of my life because of Marfan Syndrome because it truly isn’t all bad. Without Marfan I wouldn’t have met my friends who have similar conditions and I wouldn’t have met my boyfriend who also has Marfan. We met through an online support group for people with the condition and after 2 years of being in a long distance relationship last October I moved up to Hull from Hertfordshire to live with him. We are able to understand each other in ways that others just can’t and that is invaluable. I’ve also had some amazing opportunities because of Marfan, I volunteer with The Hypermobility Syndromes Association (HMSA) on the social media team as well as being their Marfan Ambassador meaning I get to represent the condition, support others and give advice and I really love the role. I’ve also built up a close relationship with The British Heart Foundation, I helped to promote some new Marfan research last year and we have more plans in the pipeline for this year as well! I’m not able to work or continue my education due to my condition but I love being able to spend my good days and hours doing things like this, trying to raise awareness of Marfan little by little. I’ve also gained a huge support community around me and when I found out last year that my cardiologist predicts I’ll need major open heart surgery in my early twenties I knew that I had people online to talk to, without the internet and that support I wouldn’t even know another person with Marfan outside of my family.

I suppose it really does show how important the internet can be to disabled people and those with rare conditions, a single tweet can often do more and raise more awareness than a day of handing out leaflets. To anyone who tirelessly works to raise awareness of a condition, rare or not, don’t give up, I’ve often felt so many times that I’m not making a difference but even if you only inform one person then it could be that one person who needs that information.

By Shona Louise

UK Disability, Lifestyle and Beauty Blogger

Marfan Syndrome Advocate