COMMON THINGS ARE COMMON – EXCEPT WHEN THE DIAGNOSIS IS RARE

by Gemma H.

My name is Gemma, I’m 25 and I have Vascular Ehlers Danlos Syndrome (vEDS). Wednesday 3rd November 2016 was the day when everything changed for me; I was at work on call when I received the phone call from my geneticist to tell me that I had vEDS. After graduating from university earlier that year and then working as a junior doctor, I suddenly found myself in the strange position of being both a doctor and a patient.

I want to share with you the journey to my diagnosis, as well as my experiences of vEDS as a patient but also as a doctor.

Throughout my life, I have had multiple unexplained medical presentations that didn’t quite fit together. At a hospital appointment as a baby, I was described by a young medical student as “a bit funny looking”, much to the annoyance of both the consultant and my parents. Not forgetting my favourite party trick of showing off my bendy fingers! The lead up to my diagnosis was lengthy and stressful. It really all started at medical school where I noticed large bruises appearing on my legs for no reason. This, combined with learning about connective tissues disorders in lectures and meeting a patient on the ward with hypermobile EDS, got me thinking “Hey, that sounds just like me!”. From here it took another 4 years of numerous GP appointments, referrals to consultants in several specialties and a diagnosis of a platelet function disorder before I was referred to the EDS diagnostic centre in London. The phone call from my geneticist almost came as a relief as I finally had a name to put to all the symptoms.

The main symptom of vEDS that I deal with day-to-day is extreme fatigue and exhaustion. Working as a junior doctor with night shifts and long hours can be a challenge for everyone, however, I have found it a real struggle and at times unmanageable which has led me to extend my training and complete it part-time. My supervisors have all been extremely supportive of my decision to do this, however with vEDS being an invisible illness, I have found myself feeling like I need to justify to some of my colleagues why I have “special treatment”, especially when tiredness is the norm for junior doctors.

Attending the Annabelle’s Challenge vEDS conference last year gave me the opportunity to meet people sharing my diagnosis for the first time. I quickly learnt that there was a sense of anger and mistrust towards healthcare professionals, especially doctors, within the patient community. I heard many stories of people feeling dismissed, rejected, not listened to and made to feel like a nuisance. In the lead up to my own diagnosis, I had the overwhelming sense of not being taken seriously or having something called ‘medical student syndrome’, a well-known concept in which med students come up with weird and wonderful self-diagnoses. I am extremely lucky as I have never had a major vascular complication or had any family history of vascular disease, however, this left the chance of me having such a rare condition very unlikely with the incidence of vEDS being estimated between 1 in 50,000 – 200,000. I felt I was having to push to get investigations which made me feel that all of my symptoms were in my head.

My own experience of learning about EDS at medical school was limited. Most of my colleague’s knowledge of EDS now is that patients have flexible joints and dislocations, which was also my brief understanding of the condition initially. The nature of medical training means that there is a huge amount of information to squeeze into just a few years, therefore rarer diseases are often only skimmed over. At medical school, the phrase “common things are common” is drilled into us, which is the concept that the simplest explanation is usually the correct one, otherwise known as Occam’s Razor. This is useful 90% of the time in practice, however, it means that there may be gaps in our knowledge when it comes to patients with rare conditions. It saddens me that this lack of education can come across as a lack of caring. This isn’t to say that prejudice against patients with chronic conditions doesn’t exist – at work I have come across negative comments from colleagues about patients with chronic/rare conditions, particularly where there is little scientific evidence and no specific treatment available. One lesson I have learnt is the importance of trusting and respecting individuals with rare chronic conditions, they are often expert patients and can be a lot more informed about their illness than doctors.

Following a diagnosis of a potentially life-limiting condition, it is easy to let despair and thoughts of the future get the better of you. My aim is to turn my experience into an opportunity to improve the education of vEDS throughout the healthcare community. Currently the thought of getting up and talking about my experiences terrifies me, however, I am hoping that with time this will become easier – writing this being my first step!

 

Disclaimer: Each story submitted to The Ehlers-Danlos Society for this #myEDS/#myHSD anthology is published "as-is," with only minimal edits for spelling, grammar, and typographical mistakes. Each profile reflects the personal views, experiences and opinions of the individual authors-and, thus does not necessarily represent the views and/or endorsements, individually or collectively, of The Ehlers-Danlos Society, its leadership, staff, boards, or communities. We can also not confirm any medical claims or comments in the story.

Do you have a story to tell? Share it with us!

Categorized in: