Guest Post: Marfan Syndrome Awareness Month

When I say the words ‘Marfan Syndrome’ to people there are usually a few different responses that I get. There’s the classic confused face, head tilted look and that signals to me that they have no idea what I’m talking about. Then there’s the ‘oh so you’re a martian response’, followed by absolutely no laughter on my part. Then there is the surprising response ‘I know what that is!’, but that doesn’t happen very often. Myself and others though are working towards a world where the third response happens more and more, a world where I can go to my GP knowing that they will be informed about my rare genetic condition. That’s the thing that most comes along with such conditions, uncertainty. Will my doctor have heard of the condition? What symptom will pop up next? What will my test results say? You get used to it eventually but what I don’t have to get used to is looks of confusion when I say ‘Marfan Syndrome’ and that is why I’m here guest posting today.

I’m Shona and I have a rare genetic connective tissue disorder called Marfan Syndrome. Think of the connective tissues in the body as being a bit like the glue that holds everything together, these tissues are vital in maintaining the structure of the body and supporting internal organs and other tissues. As its a genetic condition most people do inherit it from a parent, 50/50 chance of an affected person passing the disorder on to a child, but sometimes spontaneous mutation occurs (the gene just mutates for no reason).

'marfan syndrome awareness month' in black text against a white background - below this are photos of Shona's scoliosis surgery, and aftermath (x-rays, her in a hospital bed), her in a wheelchair, and a photo depicting her long armspan, a classic marfan syndrome sign

Marfan is one of those conditions where everyone is affected differently, even in families where more than one person has the condition. For example, I am severely affected by Marfan but my Mum who also has the condition has more mild symptoms. There are some signs to look out for that are commonly associated with Marfan, such as: having a tall and slim body, long arms, legs and fingers, and loose (hypermobile joints). Such characteristics on their own do not always mean that you have Marfan so other signs are looked for as well, such as: small lower jaw, crowded teeth, flat feet, high roof of the mouth, skeletal deformities and heart problems. You can find more information about the signs/symptoms on the NHS Choices website.

The heart problems that can occur in Marfan make this disorder life threatening and just in my family alone we have unfortunately lost 2 people to the heart complications associated with Marfan. The connective tissues in someone’s body who has the condition are too stretchy and this can lead to some problems occurring in the heart. The main one is that the aorta, the most important artery in the heart, can stretch and widen beyond what it should and this is called an aortic aneurysm. When it stretches too much though the aorta could potentially tear or even burst, this is often a catastrophic and possibly fatal event. Many people with Marfan find themselves needing some kind of preventative aortic surgery to stop the problem before it reaches that point, myself included. My cardiologist predicts that I’ll need major open heart surgery in my early twenties to prevent my aorta from stretching to dangerous levels, I’m 19 now so I’m just hoping that my heart is kind to me and it will start behaving!

collage of scoliosis surgery related photos: upper left: a photo of Shona in hospital bed; upper right: shona post-surgery showing her spine-long scar; bottom left: an x-ray of shona's spine pre-surgery; bottom right: an x-ray of shona's spine post-surgery

I was diagnosed with Marfan when I was just a baby, my Mum knew she had the condition when I was born so doctors knew to look out for the signs, many of which I displayed. A scan of my heart then confirmed the diagnosis as it was found that my aorta was already a little too big for my age and size. I’ve had my heart monitored every year since then with MRIs every now and then to get a more detailed picture. My biggest problem that Marfan Syndrome has caused though is chronic pain, I have several secondary conditions that contribute to this pain and surgeries over the years have tried to help but have unfortunately failed.

In 2013 I had spinal fusion surgery to correct my scoliosis, the curvature of the spine, as my severe curve was causing me a lot of pain. During a nearly 6 hour surgery my surgeon used metal rods and screws to move my spine into a straighter position. I wrote about my week in hospital following the surgery on my blog at the time, in which I recorded some pain I started having in my right leg. This pain continued and at 6 months post op a CT scan was done to investigate it, the scan showed that one of the screws was sitting on a nerve and was the cause of the pain. The pain was severe whenever I sat up or stood so I spent nearly a year laying down most of the time as that’s how long it took them to re-operate to replace the screw.

Shortly after I was diagnosed with a hip deformity in both my hips, a secondary condition related to Marfan called Protusio Acetabuli. My hip sockets are too deep and as a result I have early wear and tear, cyst formation and only a few millimetres of hip socket left. At 18 years old I had my first hip replacement on my worse off right hip and it really was weird waking up on a ward full of 80 year olds! Sadly that was not my only additional diagnosis as last year I was also diagnosed with a Tarlov cyst in my spine, a cyst full of spinal fluid in my sacrum area that is eroding away the bone. Altogether this is why I use a powerchair, I can walk inside my home a little on crutches but for the most part I get around on wheels!

left: a photo of shona - she has shoulder length-reddish-brownish hair; right: a drawing of shona utilizing a wheelchair, with the same hair, an olive-green jacket and beige shirt, jeans, and black boots against an orange-ish watercolor background

I use my time to blog about all sorts of topics but these days I’m really enjoying talking about issues relating to disability such as ableism and accessibility. I also spend my time raising awareness of Marfan on my FB page, blog, and Twitter. I try and spread the word wherever I can and I’ve been lucky enough to work with The British Heart Foundation recently to try and raise awareness and share my story. So, I guess what I’m saying is that it isn’t all bad!

If you want to help me raise awareness then please do share this blog post, like my FB page, RT my awareness tweets etc. There are loads of ways in which we can share the message about Marfan during awareness month!

 

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