My Marfan Syndrome Story | Part 2

I was beginning to think that I would finish another Marfan Awareness Month without completing my story that I set out to tell last year, once again life just seems to get so busy during February but I'm very glad to be writing this post, even if it is on the last day of awareness month! I had hoped to squeeze my story into 2 parts as well but it appears to be longer than I thought so part 3 will have to go live in March! Raising awareness should always continue beyond awareness months so I'm looking at my disorganisation as a good thing.

For those who don't know February is Marfan Syndrome awareness month, with Marfan being the genetic condition I have. If you'd liked some more detailed, factual information about the condition then you can visit my information page and if you haven't read part 1 to my story yet then you can also read that here. Part 1 of my story covered diagnosis and my journey with Scoliosis, I believed once upon a time that my Marfan story would end there but my body had different ideas!

After my second spinal surgery to remove a screw sitting on my nerve I wasn't able to return to school at all, I'd missed so much that dropping an A Level and delaying for a year wasn't enough to get me back there. I loved education and learning so it was a really tough decision to come to,

It took me a few months to fully recover from the second spinal surgery and by that point I'd developed pain in my hips, worse in my right. I was just starting to get back to walking at this point, but my hips had different plans and were beginning to slow me down again. I did a little bit of research as to what might be causing hip pain in someone with Marfan and the condition Protusio Acetabuli kept coming up. It's a hip deformity that Marfan can cause that makes the hip sockets too deep, causing arthritis like symptoms and bone degeneration. I was certain though that my GP would send me for 6 sessions of physio as they usually did with joint complaints. I just had a hunch that it was something more though so when my GP examined my hips and said they were normal I disagreed and pushed for a referral and I am very glad I did.

A few months went by and I started living my life again, going to my first gig and looking into college courses. The time came to get some x-ray's done and see the surgeon, by this point I'd convinced myself it was definitely nothing, so when I was told that I did in fact have the condition I'd been researching I was a little shocked. They recommended I use a crutch to support my worse right side and booked me in to have some more detailed scans, at this stage the word surgery didn't enter anyone's vocabulary. The results of my first scans showed that things were worse than we expected though and we started speaking hip replacements in the years to come, and then after another set of scans we started talking about putting me on the waiting list for a right sided total hip replacement.

Having a hip replacement is something you should avoid for as long as possible when you're young because they only last for about 15 years and revision surgeries are a lot harder. At 18 years old I was looking at having several difficult revision surgeries throughout my lifetime, but the cyst development and degeneration in my right hip was too severe to delay operating. It was a 'we will cross that bridge when we get to it' kind of situation. So, at the grand old age of 18 I was on the waiting list for a hip replacement, another surgery. By this point I was using one crutch all the time and a wheelchair for long distances.

Surgery day came around and I entered the ward where I was the youngest person there by many decades, for me that was the most daunting part. I felt so out of place. I sat and waited as I had twice before and whilst I had my normal pre-op nerves, they were nothing compared to what I had experienced before my previous surgeries. I was not scared, in fact I laughed and joked with the staff in the anaesthetics room.

Recovery after my hip replacement was far quicker than it had been with my spinal surgeries, I was up and walking with a walking frame just the day after my surgery and I was soon walking about on crutches. I had some obvious leg length difference after the surgery which I was given an insole to correct, although after a few months I got used to the difference and I can barely tell I have it now.

I think I was only in hospital for 5 days, still longer than some of the older hip replacement patients but shorter than I had anticipated! The hardest part of the surgery were the restrictions placed on me. I couldn't bend through my hip because of the dislocation risk, meaning simple things like putting on socks became difficult tasks. It was after my hip replacement that I first started to use daily living aids like a sock aid, grabber and dressing stick. They helped me to stay independent and I've continued to use them since as they've made such a difference to my life. I had no idea what tools were out there before then!

During my recovery, and even before the surgery, I was also experiencing increasingly worse lower back pain though. This is the back pain that I'm sure many of you have heard me speaking about it, the back pain that is the main reason for my powerchair use. Back then we had no idea what was causing it. My first thought was that it was another problem with my spinal fusion, I was sure that scans would show up a problem but again and again, there was nothing to be found. My pain was getting worse, I was struggling to sit upright for long periods of time and I was needing to use a wheelchair more and more, I felt really alone. I couldn't work, I didn't have a social life and I was frustrated.

My spinal surgeon was less than helpful throughout the whole process and it took over a year to get doctors to start listening. All they kept saying was that my pain would improve with time but it never did and they didn't seem to see the life limiting affect it was having on me. Eventually they pointed out a cyst at the bottom of my spine, something that had been there for years, and they both considered it as the cause but also kept telling me that it wouldn't be symptomatic. I finally had a name to research though and research I did. I found a group of mainly women on Facebook who also had this cyst, called a tarlov cyst, who were all experiencing symptoms ranging from chronic pain to incontinence. They all also had experiences of doctors telling them that the cysts didn't cause symptoms. The more I read, the more everything made sense. All of the little symptoms that I'd ignored, like numbness, all fitted into the diagnosis and I was sure that it was the cause of my pain. Many people have these cysts but it's rare for them to be symptomatic, many people seem to have developed symptoms after trauma too, including surgery. I'd had 3 operations in the same area by that stage. Everything was pointing in the same direction. And yet my spinal surgeon was still disbelieving.

After some further scans and a multi-displincary meeting I was told that it was too risky to operate on and they wouldn't consider operating at all unless I had bladder/bowel symptoms. I didn't even know surgery was an option at that point. I was relying on a powerchair and/or manual wheelchair nearly all the time by then and was barely leaving my home once a week. It was the fact that the pain was worse, a lot worse, when I was sitting up that concerned me most and drove me to find the answers I needed elsewhere.

At first it seemed that the only person operating on these cysts was in America, a totally impossible avenue for me to explore due to cost and distance. I was close to giving up when I heard about a surgeon in the UK that was operating on people with the condition, successfully too. He seemed like my only hope. My spinal surgeon said that he was the one that decided I couldn't be operated on though, but I always have and always will doubt what information my spinal surgeon passed on in that MDT meeting because he never listened to me or cared for the impact the pain was having on my life. So, I took things into my own hands.

I'll get part 3 posted next week! I really hope reading my story so far has taught you something about Marfan Syndrome during awareness month. Spread the word as knowing saves lives!

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