Friday, February 3, 2017

Marfan or Martian: Shona's Marfan Syndrome Story

Awareness is crucial to the lives of those living with chronic illness. And there is no better way to spread awareness than sharing personal stories. February is the awareness month for Marfan Syndrome, a connective tissue disorder very similar to Ehlers Danlos Syndrome. In fact, they are so similar that Marfans was considered before I received my Ehlers Danlos diagnosis! Anyways, Shona from shanalouise was kind enough to contribute a guest post about Marfan Syndrome. She offers insight on her diagnosis, treatment, and how the condition has impacted her life.

When I say the words 'Marfan Syndrome' to people I usually get some very confused looks back, sometimes some comments about how it sounds like 'martian' but mainly just confused, head tilted looks. I'm trying to change that though and awareness months and days are some of the best opportunities to raise awareness of a condition so that's what I'm doing at the moment since it's Marfan Syndrome awareness month.

Marfan Syndrome is a rare genetic connective tissue disorder. Think of the connective tissues as the bodies glue. It's what keeps the body together and stable. In Marfan things go a little wrong there and you end up with very stretchy connective tissues which can lead to all sorts of problems such as joint hypermobilty, heart problems and skeletal deformities. There are also signs and characteristics of the condition to look out for though such as having a tall and slim body with long arms, legs and fingers, flat feet, crowded teeth, small lower jaw, high roof of the mouth etc. just to name a few! It's a genetic condition so it can be passed on from parent to child but spontaneous mutation can also occur, so the gene just mutates. This means that Marfan can often be diagnosed by genetic testing but people like myself who have family history and plenty of symptoms can often just get a clinical diagnosis without any genetic tests.

I was diagnosed as a baby as my Mum knew she had the condition after her Dad and Brother died from it's heart complications, so doctors knew to look out for the signs. You could say since then I've almost been a textbook case of Marfan, I display most of the classic signs and I also have many of the associated secondary conditions. I've had surgeries to correct a curve in my spine and also a hip replacement at the age of just 18 but it's the chronic pain that impacts me the most on a daily basis. I have a Tarlov cyst in my spine, a condition I have developed because of Marfan, and it's eroding away my sacrum and causing me severe lower back pain. The pain is worse when I'm sat up and walking is too painful so I get around in a powerchair because of it.

For me treatment has mainly been surgery over the past few years but now the conditions I have are ones that can't be fixed with an operation so treatment is mainly pain management. I rely on pain medication, physio, acupuncture, heat therapy, my TENs machine and more to help ease my pain as much as possible. I've definitely had to adjust my life a lot for Marfan. I had to leave education when I was just a few months into my A Levels and I'm not able to work either so the days can be long, boring and lonely sometimes. Blogging and raising awareness helps though. It keeps me busy and my mind occupied!

It's not all bad though as there is so much that I wouldn't have in my life without Marfan. My best friends have similar conditions and without my diagnosis I would not have met them - the same for my partner, too, as he has Marfan Syndrome also. I also wouldn't have gotten some of the opportunities that I've had, like being asked to speak at The British Heart Foundation head offices or being able to have an article printed in a charity magazine. Most of all, I wouldn't be as strong or resilient without Marfan. It's shaped me into who I am today.

Thanks for sharing your story, Shona! 

Read more from Shona by visiting her blog, or by following her on Twitter, Instagram, and Facebook