Hello hello! First month of 2017 has just flown by. Some of you may know that February is Marfan Syndrome awareness month and we are very lucky to have a guest post from the wonderful Shona Louise. Over to you, Shona!
I’m Shona and for over 5 years now I’ve been blogging about beauty and lifestyle topics, in the past year I’ve also talked about disability more as well. Throughout that time though I’ve always talked about my experience with my rare genetic condition Marfan Syndrome as well. I’m not able to continue my education or work because of my health so I spend my time blogging and raising awareness of Marfan, also dedicating my time to working and volunteering with charities.
Marfan Syndrome is a rare genetic disorder that affects the bodies connective tissues. The gene that creates an important protein called fibrillin doesn’t work right and this leads to overgrowth of the bones and tissues being too stretchy. This causes the typical characteristics associated with Marfan such as having long limbs, being tall and slim, having flat feet and a small jaw with crowded teeth. There are also some secondary conditions that it can cause like the curvature of the spine, eye conditions and breastbone deformities. However it is mainly known for the heart complications that it can cause due to the body’s connective tissues being too stretchy. The aorta, the main artery in the heart, has the ability to stretch beyond what it should in those with Marfan Syndrome. This is called an aortic aneurysm and sometimes the aorta can go on to tear or even burst, this is called an aortic dissection and it is a catastrophic and often fatal event that unfortunately took both my Grandad’s and Uncle’s lives. It affects everyone in different ways though, even within families when several people have the condition and there is a 50/50 chance of passing the condition on to any children.
The biggest way that Marfan affects me is the severe chronic pain that it causes me. When I was 16 I had major spinal surgery to correct a curve in my spine but it didn’t go to plan and a year later I needed a second surgery. These surgeries were meant to relieve my back pain but unfortunately it didn’t seem to work and a few months later I found out that I would be needing more surgery, on my hip this time though. At the age of 18 I had my first hip replacement and thankfully that surgery was successful. However a cyst in my spine, in my sacrum to be specific, has left me in such severe pain that I need a powerchair to get around. The cyst is pressing on nerves and eroding away my sacrum, a triangle bone at the bottom of your lower spine. It means i struggle to sit up comfortably for more than half an hour and I can only walk a few metres on crutches, hence why I use wheels to get around. I also suffer with chronic fatigue, which means that even after a full nights sleep I can still be exhausted. In addition I also know that in a few years time I will need major open heart surgery so that plays on my mind a lot.
Most doctors and people that I meet that know about Marfan only know about the heart problems that can result in it so it always surprises people to know how much surgery I’ve needed at a young age and how much pain I’m in as well. People are always surprised at the age I’ve had a hip replacement and paired with the metal along my whole spine I’m quite the bionic woman!
One thing that I’ve learnt through having Marfan is that it’s the little things in life that matter. It’s a cliche but I remember looking in the mirror for the first time after my spinal surgery and seeing the difference in my body whilst happy tears streamed down my face. I remember the first time that I used my powerchair to go down to the local shop on my own as well, it was something I hadn’t done in years. It truly is the little things that matter the most.
You can find Shona here:
A huge thank you from Shona for sharing her story. It’s estimated that 1 in 5,000 people have Marfan Syndrome. Knowledge is the key to raising awareness about rare diseases like Marfan. This month, I challenge you to tell at least 1 person about the condition. One person at a time, we can raise awareness and stop suffering. Marfan Trust carries out medical research to aid the diagnosis and treatment for those suffering with Marfan Syndrome. Donate to Marfan Trust and help them continue saving lives.
Until next week.