Tra la la la la la la la la!
Our HMSA hoodies are sooooo comfy! Grab em’ in time for #Christmas. Either as a gift or for yourself 🙂
For me, this year has just flown by! I have started my shopping already (trying to pace and not do it all last minute)
I do struggle to say Merry Christmas everyone in November but here it is!
Shopping via Give as you live is very easy to do. If you have google chrome, you can download the Give as you live app and when you google for items it will tell you which online stores donate to our charity and at what percentage at no cost to you. Or you can simply follow the link at the bottom. It takes only a few minutes to sign up and you could be Xmas shopping and raising donations straight away!
My Marfan Experience – Hypermobility #MarfanMonday
It’s Monday so that means it’s time for another Marfan Monday post where I talk about my personal experience with the condition. For this week’s post I talked to some of my friends who have Marfan as well and asked them about what they wanted people to talk about more when it comes to the characteristics and symptoms of the condition. Something that came up a lot is that people think that because of the big focus on the cardiology side of Marfan it means that the hypermobility element is hardly being talked about and recognised. So, today I thought I’d share my personal experience with having hypermobile joints, I think this is something that a lot of people (not just Marfan sufferers) will be able to relate to.
When I was younger, about primary school age, the first Marfan related problem I had was bendy knees. I was always sitting awkwardly and in weird positions which of course then led to being in more pain and that was my first memory of my condition causing me pain. Over the years it only continued as I grew up and I went in and out of physio, unfortunately we just never found the right person to help me though. Then I remember showing everyone the cool tricks I could do with my fingers and thumbs, bending them back and moving them around. I realise now that doing those things hasn’t done me any favours but as a child it was a fun thing to do.
As I grew older I found that more and more of my joints were hypermobile and problematic. I struggled to write at school as my wrists played up and would hurt because of the stress I was putting on my bendy joints. It wasn’t until I got into my late teens that I actually started suffering with subluxations and dislocations though. My toes dislocate the most often and my knees are always slipping around but it’s become part of daily life for me. Usually I can just pop my joints back in, keep them in place with a support and go about my day. I’m hoping physio will be able to help strengthen my muscles in the future though so I can avoid dislocations.
My Marfan Experience- Scoliosis #MarfanMonday
It’s Marfan Monday and to start off these posts again I thought I would introduce myself a little. I’m Shona and I’ve been volunteering with HMSA for a little while but recently I became their Marfan ambassador. I will be striving to make sure that Marfan is well addressed and I’m looking forward to being able to represent my condition and raise awareness. To kick things off I thought I would talk a little about my experience of scoliosis, one of the conditions that I have developed as a result of having Marfan syndrome.
My C shaped curve was spotted by my Mum in my early teens and thanks to information provided by places like HMSA we knew that it was a problem that could potentially develop so we went off to my local GP. Despite a lot of doctors not having a great knowledge of conditions like Marfan the particular one we saw knew enough to know that I definitely needed a referral to a spinal deformities surgeon to learn more about my curve. The first x-rays I had showed that my curve wasn’t too big and would only need monitoring as I grew older, it was assumed that I probably wouldn’t need any kind of intervention as they thought I had nearly finished most my growing.
However, by the time I had my next set of x-rays I was suffering with bad back pain. The scans showed that my curve had significantly progressed within a very short space of time and even to this day my doctors aren’t 100% sure why this happened, every case is so individual so there was no concrete answer. I was sent off for some MRI and CT scans and despite being told that I probably wouldn’t need any intervention, surgery was planned. I had my spinal fusion in December 2013, it’s coming up to 3 years since I had my surgery now. I found the surgery to be a lot harder than I had expected but at the same time I don’t really remember much of it, especially the worst parts. The pain was bad and the recovery was tough but in the end it did turn out to be the right course of action for myself. I did end up having a few complications which required a second smaller surgery but nearly 3 years on I can say that I’m glad that I made the decision to have my curve corrected, it was the right decision for me.
We have updated our website article on pregnancy and hypermobility to reflect the findings of two very recent publications that are important observations and of interest to patients, doctors and therapists.
Sunderlin et al. identified 314 cases of pregnancy in women with either JHS or EDS through the Swedish Patient Register and Medical Birth Register. The cases were compared with 1,247,864 controls (pregnant women without JHS/EDS). The risk of complications in JHS/EDS was assessed after adjusting for maternal age, smoking, number of pregnancies, and year of birth. JHS/EDS was not associated with any increased risk of preterm birth, the need for a caesarean section, stillbirth, complications in the infant at delivery (a low Apgar score), or the infant being small or large for gestational age. At the same time similar observations have been published by Hugon-Rodin et al. This is reassuring. However there are other concerns that might arise, including musculoskeletal complications. To read our article on pregnancy and hypermobility in full click HERE.
Hugon-Rodin and colleagues also reported a high frequency of gynaecological complaints in JHS/EDS: menorrhagia (abnormally heavy bleeding) (76 %), dysmenorrhea (excessive pain during bleeding) (72 %) and dyspareunia (pain during sexual intercourse) (43 %); but endometriosis was not highly prevalent in this population. The researchers noted a subgroup of women were sensitive to hormonal fluctuations with more severe symptoms occurring during puberty, prior to menstruation, and during the postpartum (after childbirth) period. Many will likely not be surprised by these findings – but the paper is important as it highlights the reality that these are common concerns. To read more about hormones click HERE.
Hugon-Rodin J, Lebègue G, Becourt S, Hamonet C, Gompel A. Gynecologic symptoms and the influence on reproductive life in 386 women with hypermobility type ehlers-danlos syndrome: a cohort study. Orphanet J Rare Dis. 2016 Sep 13;11(1):124. doi: 10.1186/s13023-016-0511-2.
Sundelin HE, Stephasson O, Johansson K, Ludvigsson JF. Pregnancy outcome in Joint Hypermobility Syndrome and Ehlers Danlos Syndrome. Acta Obstet Gynecol Scand. 2016 Oct 14. doi: 10.1111/aogs.13043. [Epub ahead of print]
Dr Alan Hakim, Chief Medical Advisor and Trustee, HMSA. October 2016