Rarity can connote exclusivity. But with rare diseases, the tables often turn: the patient becomes the expert, educating professionals. After her late-life diagnosis of Marfan syndrome, Susan discovered just that and has been sharing her knowledge ever since, from dental surgeries to doctors in training. Marfan awareness may have its month in February but the battle is every day of every year. Read Susan’s story.
I was diagnosed with Marfan Syndrome nine years ago following open-heart surgery to repair an acute ascending aortic dissection. Every year since then I have had an MRI scan and discussion with my consultant surgeon.
It was at this visit two years ago that unidentified ‘lumps’ in my lungs showed up on the scan and I was referred to the respiratory clinic. This resulted in my being diagnosed with COPD (chronic obstructive pulmonary disease), yet another condition caused by my having Marfan Syndrome. However, a very positive sidestep from this visit was that the consultant asked if, with MFS (Marfan Syndrome) being so rare (who knew!), would I be willing to take part in the PACE exams for The Royal College of Physicians, student doctors. [PACES is an acronym for Practical Assessment of Clinical Examination Skills. It's a clinical exam where trainee doctors demonstrate their ability to examine patients, diagnose conditions, and communicate effectively in real-life scenarios].
Having quickly discovered, after my original diagnosis, how very little most medics I came into contact with actually knew about MFS, I had contacted my GP surgery to suggest extra training in this area; I had also discussed the connection between MFS and oral problems with my dental practice. So when I was asked about taking part in the PACE exams it seemed like the right next step to take in my determination to encourage better education about MS among the many strands of medical practice, so of course I said yes I would.
When the allotted day arrived, I turned up at the hospital to a very warm welcome, a nice lunch and an explanation of what the afternoon would involve. I had to be a scenario patient in consultation with a doctor, giving presenting symptoms which should prompt the ‘doctor’ to ask further questions and possibly carry out an examination. I was only there for the afternoon session, I took part in five scenario consultations, and out of five student doctors only one was able to identify and give a correct diagnosis of Marfans Syndrome. This reinforced for me how important it is to make the medical profession more aware of this many stranded condition.
On a more positive note, one of the examiners at these exams asked me if I would be willing to attend meetings with groups of doctors at his hospital and talk to them about MS, how I was diagnosed and what affect it has on my life. He also asked me to attend his students’ classes to the same end. In my pursuit of informing more medics of course I said yes.
This year I have been asked if I would again take part in the PACE Exams as a scenario patient; I was offered a Saturday or Sunday session, a half or whole day, this time I shall be doing a whole day on a Saturday.
I would really like to encourage anyone who is interested in taking part in this very valuable way of increasing awareness about MFS, to volunteer; you don’t have to wait to be asked in the way that I was, you can register your interest with your local hospital, medical practice, or directly through The Royal College of Physicians.
Susan - 07.03.2026
