26/02/2021

Living With Marfan Syndrome | Our Stories

Over the past 9 years I've spoken a lot about my personal experience of having Marfan Syndrome, a rare genetic connective tissue disorder, both on my blog and in the media. Raising awareness of the condition has always been a long term goal of mine, and whilst sharing my journey is definitely doing that, at the end of the day I am just one person with one experience. As I so often say, Marfan is a spectrum condition and even within families the manifestation of it can differ. So today, to mark Marfan awareness month I'm teaming up with Sarah, who also has Marfan, to show how differently the condition can present itself in two individuals. If you want to grasp a basic understanding of what Marfan Syndrome is first then head to my information page. 

My name is Sarah, I'm 31 and from Swansea, South Wales. I met Shona through social media a few years ago, and it's been fascinating (and somewhat reassuring) to follow her journey as a fellow creative young woman navigating life with Marfan Syndrome. Our experiences are similar in some ways, but very different in others.


DIAGNOSIS

Diagnosis for me came at a young age and I accredit my resilience and knowledge to being one of the lucky ones to be diagnosed early on. My mum was aware she had Marfan when she was pregnant with me and suspected that I too had the condition. Officially I wasn't diagnosed until I was a toddler, when I started attending cardiology appointments at Great Ormond Street Children's Hospital. My family history mixed with my own symptoms meant that being diagnosed was straightforward for me. My mum later went on to have a genetic test which only solidified our diagnosis further.

For some people they will be the first in their family to have Marfan, this is called a spontaneous mutation, but in my family the condition can be tracked back through a couple of generations. As well as my mum having the condition, both her dad and brother had it too. Sadly they both passed away from aortic dissection at a young age, but thankfully science has moved on a lot since then and those with Marfan are now heavily monitored to catch problems before they reach this stage. - Shona

Marfan Syndrome, like most other chronic conditions, presents itself very differently in every affected individual, even those from the same family. I too was diagnosed from birth. Marfan affects the paternal side of my family, including my father and three of his four siblings. I had no formal gene analysis until 2018, long after Marfan Syndrome had begun irrevocably shaping my life in numerous ways. - Sarah

SIGNS, SYMPTOMS AND SURGERIES 

For me it's been the spinal and skeletal conditions that have affected me the most. I've had spinal fusion surgery to correct Scoliosis, the curvature of the spine, as well as a second revision surgery due to a complication and a total right hip replacement. My left hip also needs replacing and I have a large Tarlov Cyst at the bottom of my spine, sometimes also called Dural Ectasia in someone with Marfan. All of this combined means I use a powerchair full time outside of my home, standing and walking is incredibly painful and when it comes to sitting up I'm also limited in how long I can manage before needing to lie down or stretch to relieve my pain. I live with chronic pain every day. It's only been this year that I've finally been told I now need major open heart surgery to repair my aortic aneurysm, up until now my heart had been very stable. I thought heart surgery would perhaps come in my 30s or 40s due to how unchanged my aorta had been, but I'd rather operate sooner rather than later. - Shona

I grew up in London and never questioned my frequent hospital trips to monitor my eye health and cardiovascular function. I assumed, as children often do, that my 'normal' was the same as everyone else's. When I was seven, my family moved to Wales and it was clear by this point that I struggled to see. In school, I'd need work from the blackboard to be written down on paper to copy, and I would hold that paper half an inch from my face. This was symptomatic of lens dislocation, a common problem among Marfan patients which leads to chronic near-sightedness. I was painfully embarrassed of my struggle and took to extreme lengths to hide it - often memorising lengthy passages of text and sight test letters to reassure those around me that I was coping. Eventually, I could not conceal my blindness any longer and in 2002 I had my first ever surgery to fully remove the lenses from both eyes. I would need very strong prescription glasses or contact lenses for the rest of my life, but the quality of my sight was improved to an incredible extent. For the first time, I could see stars in the night sky. A poignant moment, even now,

The following year, my family and I were informed that my aortic root had expanded to a significant measurement of 5cm and I required open heart surgery at Great Ormond Street Hospital to replace the enlarged section with a synthetic sleeve to reduce the risk of rupture. My aortic valve would also need replacing with a metal alternative, accompanied by a lifelong anticoagulation therapy. Fortunately, as a resilient, but typical teenager (with requisite FOMO) my first open heart surgery went very well, and I returned to school in just 10 days with no issue.

I went on to have a very average adolescence; I went to college, then university, partied hard and worked part time in retail from the age of 16 (albeit, with a few extra hospital trips, a loud ticking heartbeat and regular INR checks than my peers). However, in November 2011, I was unexpectedly, and very forcefully, reminded of my chronic condition and the catastrophic problems that can come of it.

On a Thursday evening I experienced sudden and excruciating back pain, and a panicked trip to A&E confirmed that my descending aorta had dissected, and the situation was life threatening. We medically managed things until 2013 when I underwent a second open heart surgery to control a subsequent aneurysm, I was in hospital for a month following complications. In 2016, a third aneurysm required surgery, I underwent a 12 hour frozen elephant trunk procedure and during this surgery I suffered a stroke and remained in an induced coma for several days. Fortunately there was no long term damage and I recovered a few months later. - Sarah


WORKING WITH MARFAN

My health went downhill when I was 16, after my first surgery, which meant I had to drop out of school a couple of months into my A Levels and I wasn't able to work. Thankfully, I had my blog to keep me busy and I feel incredibly lucky that it's led me to a career I can mostly do from home. Working traditional hours in a job outside my home just isn't possible for me, so being self employed gives me the control I need to only work when I'm physically able to. - Shona

I have worked since I was 16 and been lucky enough to have understanding employers and the ability to work from home on the more difficult days. Like Shona, I suffer from Dural Ectasia, which can sometimes cause debilitating pain and discomfort, leading to some days being easier than others, but generally I live a 'normal' life. In 2018 I began a new job, working in Government Communications. Five days in, I checked out a few strange symptoms including an increasing blind spot in my right eye and soon found out I required another retinal detachment surgery, 16 years after the first. The surgery was uncomfortable to say the least, but within a few weeks I was once again back at work. I can't pretend it's easy balancing full-time work with complicated health problems, but I enjoy flying the Marfan flag, educating others and proving a chronic diagnosis isn't necessarily the end of a person's chosen career. - Sarah

THE FUTURE

When you have a condition like Marfan I think you really do have to take things one day at a time, but like everyone else I have plans for the future. I'd love to be making enough money from my freelance writing and photography for it to give me a full time wage, and alongside that I want to continue using my platform to raise awareness of Marfan Syndrome and disability issues. I started speaking about my condition on my blog so other's wouldn't feel alone, and to raise awareness, and that's something I never want to stop doing. But, as proven to me this year, I never know what's around the corner when it comes my health, so it's one step at a time! - Shona

I currently have another aneurysm slowly growing in my abdomen, which is being regularly monitored by my brilliant medical team. I expect to have a forth major surgery in the next few years, but plan to achieve plenty of personal goals before and after. For me, Marfan has primarily affected my eyes, heart and blood vessels. My body has undergone major trauma and invasive surgery. I am so proud of it's strength and resilience. Thank you, Shona, for sharing your platform and allowing me to tell my story this Marfan awareness month! - Sarah

You can learn more about the signs of Marfan Syndrome on the Marfan Foundation website.

2 comments:

  1. Thank you for sharing! I recently found out both of my daughters have Marfan. Any accounts are helpful.

    ReplyDelete


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