Multifarious in its manifestations, Marfan syndrome has implications not only for the heart, eyes and skeletal system, but also for the gut. This is an increasingly recognised area of research, and Lucy has written movingly about her own struggle in this fascinating blog.

Living with Marfan syndrome affects far more than just the heart and joints. It can also affect the digestive system-  something many people have never even heard of. After another appointment this week, I’m finally starting to understand why my gut has been such a daily battle.

Connective tissue plays a huge role in how the gut moves and how the pelvic floor works. When that tissue is weaker and stretchier, as it is in Marfan syndrome, it can lead to problems with gut motility and the structures that support the bowel. Over time, those issues can become much more than “just constipation.”

For me, they’ve developed into a combination of rectal prolapse, a rectocele, obstructive defecation and dyssynergic defecation. During my recent proctogram (an imaging test that records the rectum and pelvic floor muscles while you have a bowel movement), I was only able to expel 20% of the contrast enema, providing measurable evidence of just how much the mechanics of my bowel are struggling.

The reality isn’t simply being constipated. It’s living with constant urges that never bring relief, severe abdominal pain, repeated trips to the toilet that go nowhere, leakage, and sometimes days or even weeks without a proper bowel movement. It’s exhausting, frustrating and, because it’s something people rarely talk about, incredibly isolating.

Because these terms can sound overwhelming, here’s what they actually mean:

Rectal prolapse is when the rectum slips downwards because the supporting tissues have become too weak to hold it in place. It can cause pressure, pain and a constant sensation of needing to open your bowels, even when there’s nothing there.

A rectocele is a bulge or pocket that forms in the wall between the rectum and vagina as the supporting tissue weakens. Stool can become trapped in this pocket, making it difficult or sometimes impossible to empty the bowel completely.

Obstructive defecation means the bowel is trying to empty, but something, such as a prolapse, rectocele or muscle dysfunction is preventing it. The urge is there, but the bowel simply can’t empty effectively.

Dyssynergic defecation is when the pelvic floor muscles do the opposite of what they’re supposed to. Instead of relaxing to allow a bowel movement, they tighten. It’s like trying to push through a door that’s locked.

And finally, the fact I could only expel 20% during my proctogram isn’t just a number. It’s objective evidence that the muscles, support structures and coordination needed for a normal bowel movement aren’t working together

This is why awareness matters.

Gut symptoms in connective tissue disorders are often overlooked or dismissed because they’re invisible and difficult to talk about. Yet they can affect every part of daily life, from eating and sleeping to leaving the house or making plans.

If sharing my experience helps even one person recognise their own symptoms, feel less alone, or encourages a healthcare professional to look beyond the “typical” features of Marfan syndrome, then it’s worth having these uncomfortable conversations.

The more we talk about the parts of rare conditions that people don’t usually see, the harder they become to ignore.