Today is Rare Disease Day. Whilst Ehlers Danlos Syndrome is conservatively estimated to affect at least 1 in 5000 people, and 10% of the population are considered to be hypermobile, EDS still remains a 'rare disease'. As someone who was not diagnosed with EDS until the age of 28, having been labelled an attention seeking hypochondriac for those 28 years, raising awareness and increasing diagnosis rates is one of my personal missions.
It's particularly on my mind this week after hearing of the tragic death of 34 year old Lois Owen who was diagnosed with Chronic Fatigue Syndrome/ME. Lois was so exhausted she became unable to eat and died from a chest infection she was too weak to fight off in March 2009. Not having enough energy or muscle strength to chew is a symptom I very much recognise, but with a diagnosis of Ehlers Danlos Syndrome I have enough understanding of my condition and the reasons such symptoms arise to work out various ways of managing such issues. Whilst I went without an accurate diagnosis I had no such ability to learn to cope, because how can anyone possibly cope with symptoms that are all supposed to be in their head as they are deemed to be completely fit and healthy?
For me, one of the most heartbreaking aspects of Lois's story is that on seeing her photograph it is immediately obvious that she has widespread joint hypermobility; her shoulders, elbows and wrists are markedly hyperextending, and she also has the classic morphological features of EDS. Doctors are still taught that EDS is a condition so rare they are unlikely to encounter it and so do not tend to use the basic, quick and incredibly cheap tests to consider whether someone might be hypermobile and if so whether they may have a hypermobility or Ehlers Danlos Syndrome.
My hope for rare disease day is that any doctors, nurses, physiotherapists, or OT's out there reading this might think to use the Beighton Scale as a 2 minute test to see if the patient in front of them labelled with ME, CFS, or the less polite 'heartsink patient' has joint hypermobility. It literally takes just a moment, and an experienced eye can spot hypermobility across a crowded waiting room. It's the person who's fidgeting, who uses their hands to gesticulate rather often during speech, who's an odd combination of graceful and clumsy and who repeatedly tells you that they don't know how the latest injury happened... 'it just did'.