The Reality of Marfan Syndrome – Guest Post by Shona

‘The Reality Of…’ is a series with the aim to raise awareness of disabilities, illnesses, impairments, etc. Also, educating others about the barriers that disabled people and carers face. I hope this series helps to break down misconceptions and stigma.

Life doesn’t have to stop when you have a disability.

Meet Shona

Hi, I’m Shona Louise and I’m from Hertfordshire in the UK. I live with a condition called Marfan Syndrome that has caused various secondary conditions and problems over the years. I’ve had spinal fusion surgery to correct Scoliosis and a total hip replacement, I also live with chronic pain across my body but particularly in my spine due to a Tarlov Cyst. I am also currently on the waiting list to have major open-heart surgery.

Shona is sitting in her powerchair, smiling at the camera whilst holding a copy of Rife: Twenty-One Stories From Britain's Youth, a book which she featured in. Shona is surrounded by greenery.
Shona is sitting in her powerchair, smiling at the camera whilst holding a copy of Rife: Twenty-One Stories From Britain’s Youth, a book which she featured in. Shona is surrounded by greenery.

Marfan Syndrome

Marfan Syndrome is a rare genetic connective tissue disorder that can affect the whole body. The most affected areas include the heart, eyes, bones and joints, but everyone is affected differently. Even within families the condition can present more and less severely in different people. People with Marfan are often, but not always, tall with long arms and legs, we might have flat feet and bone deformities such as Scoliosis and a breastbone that dips in or protrudes out.

One of the biggest signs that is taken into consideration when diagnosing the condition are the associated heart problems. Marfan can cause the aorta, the largest artery in your body, to bulge. This creates an aneurysm that if left untreated can be life threatening. 

How It Affects Me

For me it has been the skeletal and spinal problems that have had the biggest impact on my life. I had spinal fusion surgery to correct the curve in my spine when I was 16, a revision surgery for a complication at 17 and then a total hip replacement at 18.

I was also diagnosed with having a large Tarlov Cyst at the bottom of my spine that causes me a lot of pain when I’m sitting or standing. I use a powerchair full time outside of my home to get around as a result. I also experience a lot of generalised body pain and joint hypermobility which contributes to my mobility problems.

A black and white photo of Shona, in her powerchair with her camera, looking into the distance.
A black and white photo of Shona, in her powerchair with her camera, looking into the distance.

Until recently my heart was pretty stable but I found out at the start of the year that my aortic aneurysm has now reached the point at which we should intervene. I’m currently on the waiting list to have an aortic root replacement surgery to replace part of the aorta to prevent the aneurysm rupturing, a life-threatening event. I’ve always known I’d need heart surgery one day but it was a little bit of a surprise that it’s happening in my early 20s rather than in my 30s or 40s as I’d imagined. 

I also struggle with chronic fatigue, migraines and I live with depression. Different problems and symptoms affect me each day, it really is all about being able to easily adapt to whatever problems my body throws at me next!

Learning To Adapt

My health and disability has changed a lot since I was 16 and it really had been a constant battle of adjusting to a new normal, to have things change again. I’ve learnt to take things one day at a time, looking too far into the future has never helped me and I find I miss out on the present if I spend too much time worrying about how my disability might change further. 

Using a powerchair has been the thing that has helped me most over the years. Beforehand, I was mostly housebound and missing out on a lot of life, but receiving my powerchair opened up so many new doors for me.

Also, instead of working a regular 9 to 5 job, I am self-employed and my own boss. I can decide when I work and how many hours I work, meaning I can listen to my body when it needs to rest. I also use countless different mobility and daily living aids that help me do the things I love. 

Shona is using her powerchair, and smiling at the camera. There is a black taxi in the background with lots of people too
Shona is using her powerchair, and smiling at the camera. There is a black taxi in the background with lots of people too

Have I Changed As A Person?

I wouldn’t say I’ve completely changed as a person due to my disability, but it has certainly enhanced certain qualities that were already present in me. I’m resilient and inquisitive, strengths that have grown massively in me over the past few years. If anything, my disability has made me more confident too.

As a teenager I was shy and quiet but I am a much more confident person, who is not afraid to speak her mind. I’ve said yes to opportunities that I never would have even considered before my disability, and it was feeling confident in my identity that developed that within me. I’m also a lot more social now I have my powerchair and I don’t have to worry about my chronic pain so much!

My Favourite Superheroes

I really love all of the Guardians of the Galaxy films so I think that little team has to be my favourite! 

Thank you so much Shona for raising awareness!

If you would like to stay up-to-date with Shona, you can find her on Twitter, Instagram, her blog Shona Louise, and her Etsy shop too! Please bear in mind, Shona is in recovery from her open heart surgery at this current time.

11 thoughts on “The Reality of Marfan Syndrome – Guest Post by Shona

  1. Hello Shona! Thank you for sharing some of your story with us. I know of Marfan syndrome from other bloggers, and I’m grateful to be able to learn more from you. I’m just so sorry for what you’ve been through and continue to go through. I can’t sit in a normal chair anymore because of nerve damage so I’ve sat propped up in bed since 2015, but I use prescription painkillers to help keep me somewhat functional and avoid the wheelchair route because I wasn’t sure I’d be able to sit in it without severe hip pain. To need the power chair like you do when going out but to have that cyst causing more pain seems like a cruel catch-22. And then to learn you’ll be needing heart surgery too… I hope the waiting list isn’t too long for you. Sending my very best wishes your way. 💜

    And thank you Ami for hosting Shona on your blog. 🙏

    Caz xx
    PS. Love the new header – can’t remember if I said this to you before or not so I’ll say it again!

    Liked by 1 person

    1. Thanks Caz – Shona had her heart surgery last month, and from her tweets that I’ve seen recently, she is making a steady recovery.

      Thank you, it’s awesome isn’t it? 🙂 Xx

      Liked by 1 person

  2. Hi Shona, great to meet you. I have heard of Marfan syndrome but loved your article. Good luck with your heart surgery. Oh, yes, powerchairs are amazing. I love mine. I am in the process of giving it a makeover with custom pink armrest and legrest covers as well as gold for when I want a change of look. My chair is purple and black. I know all about being housebound (and not just because of the pandemic, but past access problems). I have spastic quadriplegia cerebral palsy, hydrocephalus and 4 vision impairments.

    Liked by 1 person

  3. Shona, you are amazing! I wish you the best with your future heart surgery. Thank you, Ami, for bringing this condition to the forefront. I really learned a lot from Shona.

    Liked by 1 person

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