February is a special month to me, not because of Valentine’s day or a birthday, but because it is Marfan Syndrome Awareness Month. This is a month where I can shout about my rare condition as much as I like, trying to inform and educate as many people as possible. Conditions like mine don’t get a lot of awareness so awareness days and months are a great opportunity to teach people a bit about your condition. Mine is called Marfan Syndrome and it’s a rare genetic connective tissue disorder.
Think of the connective tissues in your body as glue, they help maintain the structure of the body, internal organs and other tissues, so they are pretty important! These tissues are found all throughout the body as well so Marfan can affect everything from your heart to your joints. It’s a genetic condition so most people inherit it from a parent, I inherited it from my Mum, but sometimes spontaneous mutation occurs which is when the gene just changes. The condition is mainly known for the life threatening heart problems that can occur as a result of it. Marfan causes the tissues in the body to become too stretchy and this means that the aorta, the main artery in the heart, is able to stretch beyond what it should, this is called an aortic aneurysm. Then if this is left to continue further the aorta could tear or even burst, this is called an aortic dissection and sadly both my Grandad and Uncle passed away from one. My aorta is currently stretching towards the point where I’ll need major open heart surgery to replace part of it, my surgeons reckon I’ll need the surgery in my earlier twenties.
That’s the not the only problem that Marfan has caused me though and not the only problem that has/will require surgery. Growing up as a child I only had mild joint pains and joint hypermobility but when I was a young teen I was diagnosed with Scoliosis, the sideways curvature of the spine. At first we thought that it wasn’t going to get much worse but unfortunately it got a lot worse and I ended up needing surgery to correct it. Surgeons spent 6 hours straightening my spine using metal rods and screws, it was a pretty brutal surgery and the recovery was tough. I also suffered a complication though and almost a year after the first surgery I had to go back into the operating theatre to have a screw replaced because it was sitting on a nerve and causing me severe pain.
After that my hips started hurting so off I went to the doctors again, I was referred to see a hip surgeon and x-rays revealed that I had another secondary condition because of Marfan. I had a hip deformity called Protusio Acetabuli which basically means that my hip joint sockets are too deep which is causing early wear and tear and cyst formation in the joint. I had my right hip replaced when I was 18 and my left hip will also need replacing but the 3rd diagnosis that came after that is complicating that situation. During that whole time I also had ever increasing pain in my lower back that was so severe that I had to start using a wheelchair and then a powerchair. MRI and CT scans revealed that I had a large 5.5cm Tarlov cyst sitting in my sacrum, the triangle bone at the end of your spine but before your tailbone. It’s a cyst that grows out of a nerve root and fills with spinal fluid, putting pressure on nerves causing pain and it also cause me severe headaches and migraines. The cyst is also eroding away my sacrum which is leaving me at risk of fracturing it, hence why the left hip replacement isn’t being done yet as the force of that surgery would almost certainly fracture my sacrum.
I also suffer with regular joint dislocations and subluxations as well as severe chronic pain and fibromyalgia. I’ve managed to turn my bad experiences into a good thing over the years though, I use my blog and social media platforms to raise awareness and I’ve also been able to work with some great charities such as The Hypermobility Syndrome Association and The British Heart Foundation. It can be lonely and frustrating at times having a rare condition but I find that the online spoonie and disabled community really help that, even if you aren’t talking to people with the same condition.
The last thing that I want to leave you with is some of the signs and symptoms of Marfan, key characteristics of the condition to look out for: being tall and slim with long arms, legs and fingers, hypermobile joints, small lower jaw, high roof of the mouth, flat feet, breastbone deformities, crowded teeth, scoliosis, lens dislocation in the eye(s), early cataracts & glaucoma and aortic dilation/aneurysm.
You can find out more about Marfan Syndrome and Shona’s experience with it on her blog: Shona Louise.