February is the month dedicated to the heart. Not just due to the fact the Valentine’s Day is nestled into the middle of it , but it is also Marfan Syndrome Awareness month.
With the heart being one of the main organs at risk in Marfan Syndrome patients, raising awareness of this complex and life changing Syndrome is a constant must. With Marfan Syndrome being one of the most common connective tissue disorders, it is still baffling how diagnosis’s are still missed in 2022 , with some people only getting diagnosed at the end of their lives. Admittedly, not all Marfan’s patients present with classical symptoms (the weird and wonderful world of syndromes in general), but if raising awareness can save at least one life then it has been worth it.
Due to the fact that Marfan Syndrome affects the connective tissue in the body , there is not much within the body that is does not have an impact on. As the connective tissue binds structures together , supports the organs and gives a Framework to the body as a whole it is pretty tough to ignore it. Marfan’s can affect anything from the heart, lungs, eyes, bones, joints, blood vessels, skin, gastrointestinal tract to name but a few. Luckily, most people will not be affected by all of these but whichever ones they do suffer with can have a huge impact on daily life.
Some of the most common physical signs to look out for with Marfan Syndrome are
– Tall and Slender build
– Disproportionately long arms, legs and fingers (arachnodactyly).
– Pectus Carinatum (breastbone sticking outwards) or pertussis excavatum (breastbone growing inwards).
– Heart abnormalities (from murmurs, leaky mitral valves through to Aortic dissection).
– Scoliosis and other spinal issues
-High arched palate and over crowding of teeth
– Extreme Myopia (nearsightedness ) and early onset cataracts and glaucoma.
These are the most common physical symptoms and from this, a number of complications can arise. From Aortic dissections to pneumothorax. From constant dislocations to pelvic organ prolapse, life with Marfan Syndrome can always give you surprises. It is probably easier to find things within the body that are not affected by it. From being advised to avoid the contraceptive pill and other medication to not being able to give blood, the impact on health can be a factor. Generally advice is to avoid contact sports (due to risk of injury) , intense physical activity and weight lifting should be avoided. So the knock on effects of this syndrome can invade every part of daily living and yet it is still a condition that not even all medical proffessions are aware of. I know of an ophthalmologist who only discovered he had Marfan Syndrome in his 60’s after having an Aortic dissection repair.
How has Marfan Syndrome affected my life so far? To be fair, in my 44 years of life I have been pretty lucky. I am blind, have had knee and jaw reconstruction’s after dislocations, 2 eye surgeries, scoliosis, multiple breaks, soft tissue damage and dislocations and numerous other injuries. A cardiac episode whilst pregnant and some issues with my lungs. To be 100% honest though, that is nothing to what some people have to deal with due to Marfan Syndrome. Expecting the unexpected is almost my motto in life as who knows what will happen in the future. Pain is the gift of knowing you are alive.
If you have any alarm bells ringing with your health and the possibility you or a loved one may have Marfan Syndrome, please check it out. It could save your life. For more information please visit https://www.marfantrust.org/ or visit your GP or health practioner.