Marfan Syndrome: It can be a pain in the behind
February is Marfan Syndrome Awareness month. Our resident Marfan Syndrome blogger, Lucy, has this extremely important message to share: Marfan Syndrome can be a real pain in the butt – literally.
She has very bravely shared this glimpse into her life, in a bid to increase awareness of Marfan Syndrome, and connective tissue disorders.
If you’re not OK with thinking/talking/reading about “down there”, then you may want to skip this article… or, challenge yourself, expose yourself to something uncomfortable in the hope that you may learn something, and not find yourself in the position Lucy did.
In 2019, after raising concerns with my GP, I was very unexpectedly diagnosed with Pelvic Organ Prolapse by a Colorectal consultant. Yes, a prolapse!!!
I knew something was wrong, but I didn’t consider Pelvic Organ Prolapse as a possible diagnosis. I was under the impression that ‘prolapses’ only happened to women after childbirth or women over a certain age; so this was really devastating news to receive; I am only in my 20s and childfree.
I received another huge blow when the consultant told me that it was the worst kind of prolapse a person could have. It wasn’t one of the more common ones that happen to lots of women. Instead, it was a full-thickness rectal prolapse, meaning my bowel had slipped out of place and was protruding quite significantly through my rectum.
It was descending down my anus and blocking my back passage, so trying to empty my bowels was turning into a struggle which felt like an Olympic sport. This was taking its toll on my body and I felt physically violated by what had happened to me. My everyday life with an external bowel was becoming nothing less than disastrous. The lower backache and bellyache it was causing was just adding to the chronic pain I already suffer from as a result of my Marfan syndrome.
I sat, feeling shell shocked as the Colorectal Consultant went on to explain that there was no non-surgical way of fixing this. I needed an operation to reattach my bowel to the inside of my body. Abdominal surgery apparently.
This was far from what I expected when I first went to my GP complaining of something not feeling quite right down below. I had to go for so many tests, examinations and procedures on my rectum after that, and it was discovered that I also have a small anterior bulge as well, but they are hoping that will resolve after my bowel surgery.
It’s been almost a year now and I’m still discussing surgery options with the Colorectal Surgeon who I was referred to after my initial appointment with the Consultant. He’s been having talks with a multidisciplinary team as my case is very complicated due to my Connective Tissue Disorder, which is what has caused my bowel to prolapse to happen in the first place.
My Connective Tissue, is commonly called the glue that holds the body together, but in Marfan syndrome, the glue is faulty, causing our connective tissue to be less supportive than it should be. This means our joints and internal organs are prone to slipping out of place easily, like my bowel.
As things stand at the moment, I’m still living with my rectal prolapse. It’s having a really dire effect on my every day life but the multidisciplinary team have advised against abdominal surgery for me because my Connective Tissue is too frail & fragile to go through that, but the surgeon wants to try a perineal approach which means operating through the anus. He thinks that will be a lot less traumatic on my body than open abdominal surgery so I’ve told him I will do some research and consider the idea.
I won’t lie though, I don’t feel overjoyed to be facing bowel surgery through my anus, but the prolapse is causing so much chaos at the moment that I don’t feel like I have any other choice. Something needs doing, and it needs doing sooner rather than later!
If my bowel falling out of my body has taught me anything, it’s that I don’t know what’s going to happen to me next in terms of Marfan syndrome. It’s made me realise how defective our connective tissue really is! I knew it was loose, but not loose enough for our organs to slip through our rectum!
Note from the editor: It has taken 12 months for Lucy to be comfortable talking about her prolapse. If you’re struggling with something similar, please know that it’s not an uncommon thing for GPs to talk about, examine and help manage. Please don’t be afraid to consult your GP about your prolapse. You may also find assistance from a Women’s Health Physiotherapist who can help you manage any prolapses you may have.
I’m Lucy & I was diagnosed with Marfan Syndrome as a teenager. I’m an occasional blogger who often discusses life with chronic illness/health conditions. I also like coloured eyeliner and piercings. I’m from North West England. U.K.
You can read more over on my blog