Diagnosing the condition is never straight forward, it can take an incredibly long time for the patient to get to the point of diagnosis. Personally, it took me 7 years to be diagnosed, this consisted of living in the loop of doctors dismissing my pain and giving me incorrect diagnosis of common illnesses. Many are also in this situation, misdiagnosis seems to be a common issue. The syndrome is more often than not overlooked, whether this is because of it's rarity is another question. Since having the pleasure of speaking to others with the syndrome, it seems that it takes many, many years for the majority of us to be diagnosed with EDS. Being under the correct care with lack of specialists is an issue that many face. Hypermobility type testing is usually a case of finding the right doctor or specialist who can complete the physical testing based upon the Beighton/Brighton scoring scheme. This consists of categories in which a patient may meet regarding the hypermobility of their entire body, skin laxity testing and their medical history. Only then will you have correct confirmation of the complex condition that is Ehlers Danlos Syndrome. Your family genetics are also thoroughly examined to determine diagnosis. Internal problems need further investigation. In my own experience, I've also had many severe internal stomach and gastroenterology tests, as well as bowel testing to find the root of my problems from a young age. It is highly unlike you will just stroll into one appointment and be diagnosed with the condition, there are many other fields that need to be looked into first. Vascular Ehlers Danlos is usually diagnosed via genetic testing such as a skin biopsy. There is a huge relief when you are diagnosed, however every day of living with Ehlers Danlos is a battle, so it's never a winning moment, it's just a confirmation which is a great feeling even if they can't help you. You are usually under a number of specialists once diagnosed.
How Ehlers Danlos can affect your life;
Loose unstable hypermobile joints, frequent joint dislocations or subluxations, muscle weakness and wastage, gastrointestinal issues, autonomic nervous system symptoms - the function of internal organs and the nervous system, low bone density, chronic fatigue, blood circulation difficulties, chronic migraine, poor wound healing, prolonged bleeding, eye issues, flat feet, dental problems, depression, anxiety, stretchy fragile velvet skin and more.
The mass of symptoms therefore leads typically to the diagnosis of overlapping related illnesses and syndromes such as Postural Orthostatic Tachycardia Syndrome, Chirani Malformation, Mast cell Activation Disorder, Scoliosis, ME/CFS and Fibromyalgia. Some patients won't always develop these overlaps but it seems to be a common occurrence for a typical EDS patient. As I have many of the overlapping illnesses that may emerge, its hard to differentiate them all at times. I never know if its EDS causing the problem, POTS, ME/CFS and sometimes on a really unlucky pain day, it can be a bit of everything.
POTS mixed with Ehlers Danlos Syndrome is a common but highly unpleasant combination. If you faint as a result of POTS, there is a high chance you may dislocate or sublux a joint (EDS) depending on where or how you may fall. Weight loss is also something I have found in this condition. EDS can cause severe gastroparesis symptoms as well as slow gut dysmotility issues. This means that my digestive system doesn't really allow me to eat more than a child's meal per day, my drinking is also compromised because of instant pain that comes with this process. It is difficult to cope with and meal times become a painful process. My weight loss comes in frequent amounts of a combination of this issue, mixed with an intense POTS episode. My body can often feel like it is shaking or having body tremors for hours on end. It feels like every ounce of energy and fluid drains from me through sweat and exhaustion. Intense to say the least!
Whether something triggers pain is a difficult question, we wake up in pain but we also know what to avoid to make anything worse or even more strenuous on our bodies in order to get through the day. We know when we need to preserve energy, learn how to pace and try to adapt to our situation. A lot of people have concerns over the weather, temperature changes and altitude changes all of which can have adverse affects to an EDS body.
There is obviously such a thing as being hypermobile in life. Many dancers and gymnasts have hypermobility in this form with milder issues and may be able to use it to their advantage. It's not just a case of being double jointed and thinking because you can bend joints to an excessive degree it must mean you have Ehlers Danlos. I feel it will be far too easy for people to jump on the hypermobile bandwagon and assume they have EDS when this term is used. Only once since my diagnosis have I used the term hypermoblity and had someone reply "oh my body's hyper mobile too, I can do a back bend", which made me so mad as there is so much more to Ehlers Danlos than flexibility or what others deem 'being hypermobile'.
Their are others who have more complex issues that come with an Ehlers Danlos diagnosis that not many people have. From the gastrointestinal side to the autonomic dysregulations and other overlapping condition involvement that could be potentially dangerous. There is so much that consists of an Ehlers Danlos diagnosis, new symptoms are constantly arising and you are always learning something new about the complexity of the syndrome. Although, as of right now they are supposedly similar and under the same term, I really don't agree. I have always felt so strongly about it because my main issues with Ehlers Danlos stemmed from my problematic organ issues, inability to walk correctly and the dysfunction of my internal organs.
Others find comfort in specified, gentle exercise but only if they feel their body can handle the strenuous activity, others are frightened of the thought of exercise completely. There isn't a right or wrong as I've said before, people can advise you to do certain things within illness but ultimately the decision in how you live and cope with illness is up to you. Although sometimes we are told to not always depend on them, I like to use splints when I am desperate for some extra support around a joint.
Ehlers Danlos Syndrome is an invisible, chronic, incurable disabling illness in need of all of the voices it can get.