The #BendyBasics arm of the 2016 #HMSAware campaign covered a number of areas, but this post, in particular, fits very nicely into this year's #2020Hindsight theme as this observation from Shona Cobb, is something we still hear from our members and followers today (literally came up on Twitter this morning before we'd had a chance to hit publish on the draft of this post!).
Of course, the life-threatening complications of Marfan syndrome are a priority, however patient-centred care demands that quality of life, mobility and pain management aren't relegated to 'at best an afterthought'.
We talked to Shona about Marfan, hypermobility, #HMSAware and how bendies of every flavour are stronger together, EDS is not the only 'fruit' of the hypermobility family tree
"I would love more people to recognise Marfan syndrome as one of the main hypermobility syndromes. Here in the UK EDS tends to get most of the publicity and awareness and this leads to people often leaving Marfan out when talking about hypermobility syndromes in general. Still in this modern day so many people are not getting a Marfan diagnosis until they have unfortunately died as a result of having the condition so it is vital that we raise more awareness and I would love to see the EDS and Marfan communities working together more to be able to achieve both of our goals."
Hypermobility is not just a black and white issue, so to speak. Stickler syndrome, Osteogenesis imperfecta, Lloys-Dietz, Pseudoxanthoma elasticum and any number of other conditions can have a very similar presentation and impact. It's why here at the HMSA we offer support to anyone having issues with (or working in the field of) hypermobility related health problems, regardless of label/diagnosis.
In 2017, Shona shared with us some of the lesser-known and more unusual things that she's had to deal with alongside her Marfan syndrome...
After my second spinal surgery I found myself experiencing pains in 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 was further along than first imagined. 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 most 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-threateningheart 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.