It’s a beautiful sunny day in August. A young woman named Jennifer and her mum go to the beach to soak up the rays. On her way into the water, Jennifer’s right wrist starts to hurt, and then her left wrist does the same. The pain is excruciating. She doesn’t know it, but they have dislocated. She and her mum can’t understand what has happened. It makes no sense. Distressed and confused the two women go home. Jennifer’s mum drives the car, and while sitting in the passenger’s seat, Jennifer dislocates her ankle. She doesn’t know that is the reason for the agonising pain. The two try to make sense of the situation.
The next day Jennifer goes to work. The pain worsens. A long and troublesome day is over; Jennifer goes to the Walk-In clinic for advice. The ankle is swollen, and the doctor gives her a splint for it. The wrists have no obvious injury. The doctor doesn’t believe her story about the beach. She’s told to rest her ankle. The pain gets worse.
A few weeks later her hip dislocates. She doesn’t know why. Finally, she goes to see her doctor. He doesn’t believe her. He won’t agree to any tests or scans. He gives her anti-depressants and assumes she’s being over sensitive. Attention seeking.
Early in training doctors are taught a saying. If you hear hooves, think horses, not zebras.
Jennifer leads a busy life, always has. She has always been accident prone, always tired, problems sleeping, low immune system, delicate digestive system. Her joints hurt all the time. She gets dizzy. She thinks it’s normal. Her mum and grandmother say it is. Things get worse. It takes four more years of battling with doctors and specialists, but finally, she gets a correct diagnosis. Ehlers Danlos Syndrome Type 3 with Marfanoid aspects. But that’s not all. She is also diagnosed with Postural Tachycardia Syndrome, Migraines, eczema and Irritable Bowel Syndrome. By this point, Jennifer has been fired from work for taking too many sick days. She has no friends. She has moved in with her mum. She’s on pain medication that makes her feel sick. She’s in a wheelchair. Her depression is worse.
Jennifer was born with this illness. She has had it all her life. It has progressively become worse. Her mum and grandmother have it too. It had been normalised within her family. But it is not normal. It is not okay to live in pain.
Early in training doctors are taught a saying. If you hear hooves, think horses, not zebras. What they mean by this is; if a patient is describing symptoms, it will always equate to the most common diagnosis. They will not have a rare disease. It does make sense. However this doesn’t help those like Jennifer who do have a rare disease. What about the medical zebras? Ehlers Danlos Syndrome (EDS) is a genetically inherited condition with disorders of the connective tissue. It affects skin, tendon, ligaments and bones. In the case of people with Joint Hypermobility Type (type 3), their joints sublux (a partial dislocation) and dislocate. It is a painful and variable condition. It creates a variety of problems within the body. In the case of Jennifer, it may seem that she has many separate conditions, but in fact they are all caused by her EDS. It’s known as an invisible disability. It isn’t always apparent that someone may be suffering.
You may be amazed to hear that one of the reasons people with EDS don’t get diagnosed is because very few people within the medical field have even heard of it. Then again, had you before this article? It’s thought that 1 in 2,500 to 1 in 5,000 people are affected by EDS. You might agree these are very vague statistics. More concerning is how little information there is about inheritance, prognosis of the condition and even the lack of a clear, definable way of diagnosing or treating it in the first place. Much of the information found on-line comes from first-hand accounts of the condition, or charitable groups trying to be heard.
Professor Rodney Grahame spent over 60 years of his working life dedicated to the diagnosis and treatment of EDS. In all three hospitals he has worked he has founded clinics specific to this. In 1998 he was awarded a CBE (Commander of the Most Excellent Order of the British Empire) for services to Rheumatology. He knows his stuff when it comes to EDS. He believes that EDS may not be as rare as we think. He thinks that 1 in 10 people are hypermobile, a much larger statistic than previously thought; but never fully researched. Prof Grahame goes on to say that people with EDS are often ignored by the medical profession as they are viewed as “weird” and have been “trivialised”. It’s this attitude toward EDS sufferers that has caused such problems with acceptance of the condition. Many people with this condition suffer in silence. Little research has been put into understanding and managing EDS. A recent petition has been put out asking members of the public to support sufferers in bringing this problem to the attention of our government. The petition is asking for funding for research into Ehlers Danlos Syndrome; it’s statement saying “EDS is a debilitating and often life threatening conditions, there is very little research and we are a long way off a cure, we need research.” With only 1,820 signatures, this issue will not be seen by government, let alone discussed or actioned. It seems astounding to me that in such a developed country a condition that could potentially affect 1 in 10 people is being so wilfully neglected.