Marfact #4 + The importance of a diagnosis.

In honor of Marfan Syndrome awareness month I’ll be posting one Marfact each day to raise awareness. All facts – unless otherwise stated – have been provided by the wonderful Marfan Foundation.

Marfact #4: Knowing the signs of Marfan syndrome can save lives. Common outward signs are long arms, legs, and fingers; tall and thin body type; a curved spine; and a sunken or protruding chest bone. 

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Many  people with Marfan Syndrome had never heard of the disorder until a doctor, a friend, a coach, or even a stranger noticed their symptoms and mentioned Marfan Syndrome to them. That is exactly why knowing the signs really can save lives. Due to ongoing research, advanced medical treatments and medications, the life expectancy for people with Marfan Syndrome is now the same as for those without. That’s incredible! When my mom was first told that I might have MFS the only information anyone in my family could get their hands on said that if I did in fact have the disorder I would likely only live into early adulthood. Things have definitely come a long way since then. But, as amazing as this improvement is, it’s entirely dependent on having the proper diagnosis, therefore being able to receive the proper medical  screening and treatments before a life threatening emergency occurs.

Another reason diagnosis is so important is that if an emergency does occur for someone diagnosed with MFS – such as an aortic dissection – knowing that person has Marfan Syndrome and is therefore at a 250 times greater risk of having an aortic dissection can help make sure that the proper tests are done first and that the correct diagnosis is made faster – which can make all the difference in that kind of emergency situation.

I’m very grateful to have a diagnosis. It was a long and very difficult road to get there but knowing what type of disorder I have has lifted a huge burden of uncertainty off of my shoulders. I don’t have to wonder about it anymore and that’s a huge relief. And I think that the difficulty in getting there only made finally having answers all the more meaningful. Not to mention getting diagnosed allowed me to find the amazing, loving and supportive community of people with connective tissue disorders that I’ve been lucky enough to connect with. They’ve seen and gotten me through a lot of the more difficult aspects of being chronically ill and I can’t imagine life without them. We’re one big, bendy family. ♥

3 thoughts on “Marfact #4 + The importance of a diagnosis.

  1. Thanks for taking the time to do this, I appreciate I ate the info and like to read about how someone manages with such a disorder. We are suspecting ehlors danlos for my 11 year old son and same or Mar fans ( since I have been reading your facts about it) for my 17 year old daughter
    who can’t manage 5 days of school. She has to have sleep days to cope where she sleeps 16 hrs in 1 day.
    Good health go you, and thanks for sharing. You have given us different areas to consider and PoinT the doctors in a direction they would never consider.


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