Monday, 22 February 2016

Guest Post from Shona Louise: Have You Heard of Marfan Syndrome?

If you're a regular reader of Sarah's blog then firstly I must apologise because I am not Sarah who is considerably more awesome than me! Secondly, you probably have heard of or know a little about Ehlers-Danlos Syndrome or you might even have it yourself; well today I'm not here to talk about that, it's time for Marfan Syndrome's turn! Marfan's comes under the same bracket of heritable disorders of the connective tissues as EDS but is much less talked about because it is less common. Today I want to tell you a bit about what Marfan's is, and the signs and symptoms. It just so happens to be Marfan Syndrome Awareness month, so this is good timing!

Now, before I give you my explanation I'll point you in the direction of the 
HMSA website where they give a much more scientific breakdown of the syndrome. Marfan Syndrome, like EDS, is a connective tissue disorder, and these are the tissues that are a bit like the bodies glue. With Marfan's, these tissues become very stretchy leading to mainly (but not limited to) heart, eye and skeletal problems. It's genetic so most people inherit in from a parent; you have a 50/50 chance of getting it from a parent if one of them has the condition. However in some cases spontaneous mutation can occur meaning you can get the condition even if your parents don't have it; in all cases though it is a syndrome that you are born with, but for some symptoms may not arise until you are a teenager or even an adult.

Common symptoms and signs to look out for are being very slim and tall with particularly long limbs, flat feet, and also having hypermobile joints. These are quite general though and it is possible to fit that criteria without having a hypermobility syndrome like Marfan's, so problems like scoliosis, lens dislocation and aortic changes in the heart are usually the key to getting a diagnosis. Everyone with Marfan's suffers at a different level though; I have been lucky enough to have had an array of different problems throughout my 18 years of life, whereas my Mum has been okay apart from some joints problems, and in fact most doctors wouldn't even recognise she has the condition as she doesn't fit all the typical criteria.

The heart problems that I mentioned that are related to Marfan's is the reason why we need more awareness, so many people are not getting a diagnosis until they have unfortunately passed away from an aortic dissection as not even all doctors know much about this syndrome. I know that this isn't a common condition, but here in the UK we are way behind in terms of awareness. So many more people know what Marfan's is over in the US and I just wish we could get to that level! In some schools they are even asked if they or a family member has Marfan's before being allowed to participate in some sports, and they even have scoliosis checks, where if a curve is found they can start asking about Marfan's. That's the level we should be at but I realise we still have a long way to go!

Before I say my this final part I just want to let you know that this is not an attack upon anyone with EDS nor am I ignoring the struggles and pain that people with EDS go through, most of my friends have it! However, a lot of people around me would agree that EDS does get the majority of the attention and awareness in this country. I don't mind as much because it is more common but what does bother me is people not including Marfan's or other hypermobility syndromes such as Osteogenesis Imperfecta and Stickler's Syndrome when talking about these kinds of conditions. This has especially been happening recently, if we all worked together and started to talk about all the hypermobility syndromes instead of just one then we could make much more of a difference. Perhaps even if you took some time to educate yourself on the other syndromes out there that have a hypermobility element then that would make a huge difference. I'm not going to lecture you all day though, I can only hope that we'll all start working together better in the future.

If you want to learn a bit more about how Marfan's affects me then you can head over to my blog Shona Louise.

1 comment:

  1. You are just as awesome as Sarah, Shona! I had never heard of Marfan's Syndrome until I met you & thought that hypermobility syndrome was a condition, not an umbrella term, because that's how Dr.s used it. There needs to be a lot more awareness of all the hypermobility syndromes amongst the general public & medical professionals, but I think particularly the conditions such as Marfan's & the EDS types where symptoms can be fatal definitely need extra awareness. After all, they have the most serious consequences! Xx

    Tania | When Tania Talks


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