Throughout February I’ve been sharing my story and experience with Marfan Syndrome because as well as it being #HMSAware week and Rare Disease Day on the 28th, it is also Marfan Awareness month!
Over the past few Mondays I’ve covered everything from my diagnosis, childhood symptoms and finally my scoliosis journey. Today though, for my spot this week I’m going to be covering some of the lesser heard of and talked about secondary conditions and symptoms that I’ve experienced thanks to Marfan.
After my second spinal surgery I found myself experiencing pains in my both my hips, part of me thought it was just normal joint pain for me but something told me that there was more to it. So, off I went to the doctors where unfortunately the doctor just examined me a little and said my hips were normal, I knew something wasn’t right though and pushed for a referral to see someone at the same place where I had my spinal surgeries. I managed to luckily be referred to see someone, who had a good enough knowledge of Marfan, to see that my hips weren’t normal and x-ray’s confirmed this. I had a hip deformity called protusio acetabuli in both my hips. It has made my hip sockets too deep and this has led to wear and tear. I was told straight away that both hips would need replacing at some point but we hoped that was years away. Unfortunately CT and MRI scans showed that the problem were further along than first imagined though. My right hip was worse and I had only a thin layer of bone making up my socket so having a hip replacement was unavoidable and I was put on the waiting list immediately. I had the surgery when I was just 18, not an ideal situation as it will have to be re-replaced many times throughout my lifetime but it has solved my pain issues and improved my range of movement. My left hip isn’t as damaged so it seems that we can watch and wait with that one.
I then received a diagnosis last year that also complicates the situation with having another hip replacement though. After ongoing chronic back pain I finally found out what the cause was, a large tarlov cyst was found in my sacrum. Apparently it had come up on my scans before but was never regarded as an issue, hence I wasn’t told but it had grown and was starting to erode away my sacrum leaving me at risk of fractures, meaning that a hip replacement is mostly likely going to cause such fractures due to the force needed. Unfortunately it was decided that surgery is too risky for me to undergo to improve my pain though. I use a powerchair to get around now, both because of my back pain as well as other issues.
Leading on from that I think recognising and treating pain related problems in those with Marfan is something that really needs to be improved in the UK. In my experience not enough doctors recognise that there are many different secondary conditions that Marfan can cause that can both cause pain and even require surgery. For example, if I hadn’t pushed for a referral to a hip surgeon then I would have been walking around at risk of fracturing my hip. Whenever I see doctors and they know about Marfan often they only have a decent knowledge of the life threatening heart problems which is fair enough but it has meant that the other Marfan related problems have been neglected over the years. Often even the people I know think that my problems are just generalised pain, rather than connected to a specific problem that has either required surgery in the past or will require surgery in the future. It’s been a tough journey over these past 4 years and I have a lot more ahead of me including dealing with this cyst and the associated pain as well as the fact that I will be needing major open heart surgery in my early twenties most likely.
I make the best out of the situation though and love using my experiences to help support others, whether that be through my blog or through the HMSA as their official HMSA Marfan Ambassador! Being able to answer questions, aid in the diagnosis process or just educate and inform people is amazing and the connections I’ve made through it all keeps me smiling. Yes I might have had a few surgeries, yes I might be in chronic pain all the time and yes I do need heart surgery but, just being able to help one person can often make me forget all about that.
HMSA Marfan Ambassador.
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