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The truth about Marfan syndrome

Ross_ScopeRoss_Scope Posts: 4,213

Scope community team

edited February 28 in Disabled people

“People tend to have a very narrow view of how this condition presents itself” – The truth about Marfan syndrome.

This February has been a special month for numerous reasons – Valentine’s Day, Pancake Day, and the arrival of brighter nights.  But you might not know that February is important for another reason too, as the whole month is dedicated to raising awareness of a relatively unknown condition, Marfan syndrome. 

What is Marfan syndrome?

Marfan syndrome is a disorder of the connective tissues which maintain and support the body’s internal organs.  The syndrome is generally inherited from either parent and varies in severity from person to person.  

This NHS webpage about Marfan syndrome describes common characteristics as:

  • being tall  
  • scoliosis
  • vision problems
  • abnormally long and slender limbs, fingers and toes (arachnodactyly) 
  • heart defects 
  • lens dislocation – where the lens of the eye falls into an abnormal position

How are people with Marfan syndrome diagnosed and treated?

A qualified physician will normally take a full family history and carry out a physical examination.  While the Marfan Organisation lists other tests used to gain a diagnosis as:

  • Echocardiogram. This test looks at your heart, its valves, and the aorta (blood vessel that carries blood from the heart to the rest of the body).
  • Electrocardiogram (EKG). This test checks your heart rate and heart rhythm.
  • An eye examination, including a “slit lamp” evaluation to see if the lenses in your eyes are out of place. It is important that the doctor fully dilates the pupils.
  • Other tests, such as a computerized tomography (CT) scan or magnetic resonance imaging (MRI) of the lower back. These tests can help your doctor see if you have a back problem that is very common in people with Marfan syndrome called dural ectasia (swelling of the sac around the spinal column

As Marfan syndrome is a chronic condition that presently does not have a cure, treatment aims to manage symptoms and reduce the chance of complications.  This NHS webpage about Marfan syndrome treatment details services a person can be referred to for treatment including a geneticist, cardiologist, ophthalmologist and orthopaedic surgeon. 

Speaking to Shona Louise

To find out more about the lived experience of Marfan syndrome, we spoke to Shona-Louise, blogger at ShonaLouise.com.


Shona in her wheelchair in a city type landscape

Your blog describes how you were diagnosed with Marfan syndrome as a young baby/toddler.  In what ways do you think having the condition impacted you as you were growing up?

Growing up, the biggest way in which Marfan affected my life were the yearly trips to Great Ormond Street Children’s hospital to have heart check up’s. I experienced joint pain and hypermobility as a child, but it wasn’t until I hit my teenage years that Marfan became a bigger part of my life. I was diagnosed with Scoliosis, with 2 spinal surgeries following to correct it, and also a hip condition that led to a hip replacement at 18 years old. Whilst Marfan didn’t affect me much as child, I did however soak up as much information about it as possible. My mum has the condition too and was always really open with me as a child about Marfan and what it meant, encouraging me to speak at my doctors’ appointments. It was her actions that meant that when Marfan did begin to cause me problems, I was the most prepared I could be.

How do you cope during challenging periods such as when you had the operation to treat your scoliosis?  What difference do your care team/loved ones make during these times?

For me, writing about my experiences has been incredibly cathartic. It’s easy to feel alone when you have a condition like Marfan but writing on my blog about my surgeries and diagnosis led me to find others living with the condition, and that online connection helped me a lot during the harder times. When it comes to my doctors it makes such a difference when my team is knowledgeable about my condition, and when they also trust my knowledge too. Support can come in many forms and for me having my medical teams work alongside me, trusting that I know my body, has helped massively.

What attitudes have you come across from the general public in connection to Marfan syndrome and being a wheelchair user?  And are there any common misconceptions that frustrate you?

Whilst it’s often frustrating that so few people have heard of Marfan syndrome, for me it’s a greater frustration when people misunderstand the condition. People, including medical professionals, often see it as only a heart condition that makes you tall, which has led to my chronic pain and physical disabilities being misunderstood over the years. People tend to have a very narrow view of how this condition presents itself, but it’s a spectrum and it looks differently in everyone. When I first started using a wheelchair a lot of people struggled to understand why it was needed, especially when I’d seemingly had no physical problems previously. I’d been an active child running around, so it took time for some to get their head around the fact that I needed to use a wheelchair now. It was those attitudes that were such a barrier to me accessing the right support though.

How has having Marfan syndrome positively added to your life?

If I didn’t have Marfan syndrome then I wouldn’t have my career, I wouldn’t be a published author, I wouldn’t have most of my success and relationships. All of my achievements can be linked back to my disability and Marfan and I’m really proud of that. I am so much happier for following the path my life has gone down, for using my differences to my advantage. I’ve met friends for life through the Marfan community and it’s a honour whenever I get to represent us.  

What one key message would you like our community to know about Marfan syndrome?  And how can they be an ally to people affected?

Marfan is a syndrome affecting the whole body, it’s not just a heart condition and it doesn’t just make us tall. It affects every single person differently as well, even my mum has a very different experience to me. So, when you’ve met one person with Marfan, you’ve simply just met one person with it, not all of us. It’s super important to raise awareness of Marfan, if a person is diagnosed than life threatening cardiac events can be avoided, it’s when people go undiagnosed that the risk increases. So, use this month as an opportunity to share some information on the signs and symptoms, it could make a massive difference to someone’s life.

Your thoughts:

  • Have you learnt anything about Marfan syndrome from Shona’s interview?
  • Had you heard of the condition previously?
  • What will you take away from reading this today?
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Replies

  • lisathomas50lisathomas50 Posts: 4,363 Disability Gamechanger
    I had heard of it but didn't fully understand how the condition affected people 

    I have learnt more now from this thread so thank you for that 

    There are so many conditions that affect people's lives and we have to struggle and get recognition 

    Thank you for sharing 
  • Cher_ScopeCher_Scope Posts: 4,071

    Scope community team

    edited March 2
    @lisathomas50 Thanks for that feedback :) It was a condition I'd not heard of either and I was super thankful that Shona took time to talk and explain more to our community.  Awareness and education is key, isn't it?
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  • lisathomas50lisathomas50 Posts: 4,363 Disability Gamechanger
    @Cher_Scope awareness is certainly the key the more we share the more we learn  and the more it helps us to understand other people's conditions 😀 that is the only way to get it out there 
  • Ross_ScopeRoss_Scope Posts: 4,213

    Scope community team

    Certainly is, couldn't agree more @lisathomas50
    :) 
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  • Alison4498Alison4498 Member Posts: 5 Listener
    My ex husband has this condition, I have Ehlers Danlos, and our three children most likely a combination of the two.

    Between them they have had or have myriad symptons (intersusseption, talipes, pigeon chest, dental overcrowding, squints, scoliosis, joint dislocation/ hypermobility) but very few the same, although they are all tall with long limbs and slender fingers and toes.

    It is a very misunderstood condition because it does not easily fit into a standard diagnosis box.

    Anything that raises awareness is a positive.
  • dolfrogdolfrog Member Posts: 440 Pioneering
    I have a PubMed Marfan Syndrome research paper collection I created some years ago which you may find of some interest at 
    https://www.ncbi.nlm.nih.gov/sites/myncbi/1v9jzpUc5t6/collections/41047609/public/ 
  • 4wheeledwonder4wheeledwonder Member Posts: 3 Listener
    Morning everyone! This is a really interesting topic, In the latest addition of our podcast, we talk to Jessica Smith who has Marfan Syndrome... If you are interested you can listen to the episode at www.anchor.fm/labledpodcast

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