If you’ve clicked on this page then I’m guessing that you are probably a little curious as to what Marfan Syndrome is! And no, it doesn’t involve martians. I often talk about Marfan, a genetic condition I have, on my blog and sometimes I forget that not everyone has heard me talk about it before. So, I wanted to create a solution! A page that explains the ins and outs of Marfan Syndrome alongside some information about my personal journey and awareness raising efforts.
Marfan Syndrome is a genetic connective tissue disorder, think of the connective tissues in your body as the glue that holds everything together including your organs and joints. The connective tissues in the body also play an important role in helping the body grow and develop properly. So, when things go wrong with these connective tissues a lot of potential problems can arise. The condition is usually inherited from a parent, there is a 50/50 chance of the condition being passed on from an affected parent. However, in about 25% of cases spontaneous mutation occurs, this is where the gene just mutates, the condition isn’t inherited.
The gene defect leads to the abnormal production of a protein in our bodies called fibrillin, this results in parts of the body being able to abnormally stretch. The defective gene also leads to some bones growing longer than they should, this means that someone with Marfan may be very tall due to having long arms and legs.
There is no cure for Marfan so treatment focuses on managing symptoms and reducing the risk of complications. It is a condition that affects many different parts of the body so someone with it will usually be treated by a variety of different teams and doctors including cardiologists, rheumatologists and physiotherapists. It is thought that Marfan occurs in about every 1 in 5,000- 10,000 people, making it rare condition but not majorly rare.
Knowing the signs of Marfan Syndrome can honestly save lives. Every person’s experience of Marfan is slightly different and everyone has a different combination of features. Some features are a lot easier to spot than others and unfortunately the most devastating heart complications are often the most silent problems. Having a few of the features of Marfan doesn’t mean you have the condition but if you tick quite a few of the boxes then I would recommend that you speak to your general practitioner.
- Long arms, legs and fingers
- Tall and thin body
- Curved spine (Scoliosis)
- Chest that sinks in or sticks out (Pectus Excavatum/Pectus Carinatum)
- Hypermobile (flexible) joints
- Flat feet
- Overcrowded teeth
- Stretch marks unrelated to weight loss/gain
- Aortic aneurysm (widening of the aorta)
- Aortic dissection (when the aorta bursts)
- Mitral valve prolapse
- Sudden lung collapse (spontaneous pneumothorax)
- Dislocated lens in the eyes
- Severe nearsightedness
- Detached retina
- Early glaucoma and cataracts
- Dural ectasia (ballooning of the dural sac surrounding the spinal cord)
It’s important to note that not everyone with Marfan is tall and thin with hypermobile joints for example, you don’t need to fit into all the boxes neatly to have this syndrome.
My hip replacement was in 2015 and unfortunately that wasn’t the end of the my problems as in 2016 I was diagnosed with a tarlov cyst. This is a spinal cyst that grows out of a nerve root, anywhere along the spine, it then fills with spinal fluid. My cyst is about 5.5cm and is in my sacrum, the triangle shaped bone at the bottom of your lumbar vertebrae, the cyst has already eroded away a lot of my sacrum. The cyst causes me severe chronic pain in my lower back which is a lot worse when I’m sitting or standing. So, I use a powerchair to get around and I use the recline and tilt functions to relieve my pain whilst out the house.
In 2021 I will also be having a valve sparing aortic root replacement to treat my aortic aneurysm.