I’m a Marfan and I come in peace
Let me begin by saying that this article is not a cry for sympathy. I want this article to let you into my past, present and future and if you leave here with a bit more knowledge then that's a plus.
I have Marfan Syndrome. No it's not infectious. No you don't wish you had it and Yes I'm the only one in my family who has it. It's an invisible disability. If you were to look at me you wouldn't be able to tell that I live with chronic pain, or that I have mechanical parts inside of me or that I live in a constant battle with my body to keep it working. My personality is somewhat to blame for the mirage. Most people don't know anything is wrong until I tell them or unless they see my scars and I kinda like it that way. It enables me to feel relatively normal on the outside when what's happening on the inside is far from normal. So, here's the science bit…
Marfan syndrome is a connective tissue disorder. This means that my connective tissue, i.e the building blocks of my body (muscle, tendons and bones) are affected.The fibrillin in my body is defective so everything is very long, very thin and very floppy. It has affected my heart, spine, hips, diaphragm, blood vessels and limbs. You name it, its effected.
I have been in and out of hospitals and doctors clinics for as long as I can remember. I have quite a collection of X-rays. The majority of my childhood was spent in a back brace which was to try and help my scoliosis. Scoliosis is a curvature of the spine. I was this brace day in, day out and it limited what I could do. Even bath time was different for me because I couldn't get the brace wet. So my baths had more of a puddle vibe than an actual bath. I wore the brace until my curve became too severe and the decision was made to fuse my spine together using titanium rods. Luckily they did the job, but it now means my spine has no mobility.
The next hurdle to get over was that of my heart. Marfans effects the heart by making the valves and the vessels inside the heart weak and floppy. After years of medication the time had come to upgrade and my first lot of open heart surgery was ordered. This surgery was to replace the aortic root of the heart that was becoming to large. A year later I endured a second helping to open heart surgery. This time it was to replace the aortic valve with a mechanical one because my one seems to be letting too much blood flow the wrong way.
Regardless of my limiting hardware I was still determined to be a “normal” kid. My height was an obvious advantage in sport but it also put a lot more pressure on my already weak heart so that was a balancing act. I also found a love for the arts. Singing and acting were a refuge for me and it was for many years. It was a place that welcomed in anyone and everyone regardless of your past and you could become someone else for a little while. Sign me up!
I have been brought up with a “Can do” attitude. My family have always supported me in my adventures. I’ve performed on stages, I’ve climbed mountains, I’ve travelled, I graduate from university with a bachelor of science, I'm a nurse and I've been able to do this because I believe that I can.
However, I am only human.
On the 1st of March this year I was given a sharp reminder of just how precious life is. That morning was like no other. I got up and began to get ready for work, like any other day but something was different. My hand felt like it didn't belong to me. My brain was telling it to do things but it just wasn't listening. Then my leg started to do the same. I tried to understand what was going on but I couldn't. I've been dressing myself for 23 years, you’d think I’d know how to do it by now but for some reason I had lost all power to complete this simple task. I began to panic. I tried to explain to my family what was going on but the words escaped me. Literally. I couldn't talk. In a whirlwind, I was scooped up and taken to hospital, time slipping between my misbehaving fingers. A few scans later and a ride in an ambulance the phrase no 23-year-old thinks they will hear…
“You’re having a stroke”.
Tick, Tock goes the clock…
Now if you don’t know, a stroke happens when a clot blocks off blood flow into part of your brain. No blood, no brain. If the clot remains in the brain for too long the brain tissue which has lost blood supply dies. This is how some people are left with paralysis in parts of their body. This is also how people die. You're working against the clock to try and limit the damage to the brain. Time was going so fast but it felt like I was in slow motion.
If my scenario wasn't hard enough, you have to add in the fact that I have Marfans. This plus the fact that they are attempting to take a clot out of my brain by going through my artery scared the majority of the doctors looking after me. They didn't want to operate. Without the operation the clot would remain in my brain and I would have to practically learn how to be human again. I would need to re-learn how to talk, walk and move my arm and hand. Months of physio and speech therapy awaited me with no certainty that I would return to my original state. The surgery on the other hand was even more uncertain. 20% of people with vascular disorders (that's me) die during this procedure. If you don't die, then you have a high risk of a blood vessel being torn during the procedure leading to a lot of blood being where it shouldn’t. Which means that I could have come out paralysed even worse than before. For me though, living with this clot in my brain was not an option.
During the angiogram, which is a type of scan that they do to determine the size of the clot, the doctors were still deciding as to whether or not do the surgery. Once they had found the clot, they realised the size and severity they knew that they had to go ahead with the surgery. I told them to get it out.
I remember just before they put me to sleep talking to the anaesthetist, I have never been so scared. After all my open heart surgeries, spine surgeries this was the most scared I have ever been because I knew the risks. I knew that I may not wake up the same or even wake up at all. What was I thinking about? Love. I was thinking about my love for my family. How much they meant to me and how much I wanted to see them again. How much I wanted to hug my mum and tell her I was sorry for putting her through this. I wanted to tell my whole family I was sorry. I couldn't help but feel responsible for causing my family fear and angst and the only way I could make up for it was making it through this surgery.
If you haven’t guessed yet, I made it through the surgery. There was a couple of set backs during my recovery because of the medication that I’m on. I take warfarin, which is a blood thinner, normally reserved for the elderly population but a select few of us young whipper snappers get to endure the delights of having blood that doesn't clot. Blood that doesn't clot is an issue when trying to heal a whole in a major artery, like the femoral artery. So if the hole can’t heal, the hole bleeds. Believe me when I say, it bled and it bled a lot. It bled all into my thigh which made moving that little bit harder but it gave me a killer bruise.
During my stay in hospital, I had a lot of time to reflect and I came up with a few things that going forward I would like to prioritise. My first was my health. I thought I had it all under control but life seemed to get in the way of blood tests, or appointments or taking my meds on time. You can't let life get in the way of saving your own life. This resonated with me a lot. Second thought was appreciating my family, friends and boyfriend more. I need to spend more time with those who bring something into my life. I need to take any moment with them and run with it because that was all I could think about before going to sleep. It was the love I had for those in my life.
We forget day to day how fragile life is. We get swept up in the rat race and the material things and we forget what is important. I have never been one to sit back and watch the world go by without me. My conditions have given me challenges, death-defying challenges. When faced with a challenge you have a choice; succumb to the challenge or challenge the challenge yourself. There will be days when the problem seems too big, everyone is allowed those days but it's how you dust yourself off and get back to it that counts.
We never know when our clock will stop, but make every second count.
