Getting an EDS Diagnosis (Ehlers Danlos Syndrome)

I was diagnosed with Ehlers Danlos Syndrome (EDS with hypermobility and POTS – Postural Orthostatic Tachycardia Syndrome). It is a connective tissue disorder, which basically causes problems wherever there is connective tissue in the body (which is almost everywhere – skin, joints, eyes, even eardrums – connective tissue connects & binds all other tissues in the body). I am also suspected of having Mast Cell Activation Syndrome (MCAS) and Endometriosis. 

That is a lot for one person to have, I know! If it were not for #NEISVoid, I would have thought I was probably one of the few people in the world to suffer this much but in reality there are so many of us!

This is why EDS Awareness Month (May) is extremely crucial. The Ehlers Danlos Society has created the #MyEDSChallenge, with a theme for every day in way, where EDS patients share their experience on social media (You can see mine on my Twitter & Facebook, links in intro).

Getting an EDS Diagnosis – An arduous journey

Getting an EDS diagnosis takes an average of 10 years from the time your symptoms first flare up. It is key to have a doctor who understands this condition but they are few and far between.

For years, I suffered with little to no help. Even before my complete crash in April 2019, I was getting progressively worse. It was all chalked to bad posture (if it was any muscular pain) or stress (if it was related to palpitations, hypertension) or bad sleep hygiene (if it related to insomnia) or lack of exercise (ignoring the fact that exercise made me feel worse). Even the straightforward connection between my periods & my symptoms getting worse was not made by my doctors.

So every time a symptom popped up, the relevant body part(s) was examined. If something could be clearly found, it was given a name & whatever passed for minimal medical support. If something couldn’t be found, it was attributed to anxiety or mental health issues. So I was first diagnosed with degenerative disc disease, then patella femoral syndrome, then fibromyalgia & hypertension. Not a single doctor sought to make a connection between all these issues. The specialists were only concerned with their part & the GPs had washed my case off to the specialists.

Finally, I am now with a GP who practices integrated medicine and looks at me as a whole person and not the sum of my body parts. In less than 3 months after being my family doctor, she diagnosed me with Ehlers Danlos Syndrome (most likely with Hypermobility). I am very lucky that I now have a GP/huisarts/PCP who knows about EDS, knows which parts need to be treated my specialists, makes referrals for those and coordinates all these together with me. Not having a doctor like her from the beginning of my crisis period meant spending nearly 2 years in limbo, thinking that I was either dying or a hypochondriac. 

The reason it takes a long time to get an EDS diagnosis is mainly because medical students are taught to think of horses, not zebras, when they hear hooves – i.e., to think of common conditions & not rare diseases when they hear/see their patients’ complaints. So these conditions are rare not because they rarely occur but they are rarely diagnosed!

If you have chronic symptoms/pain & have access to internet and social media, please use #NEISVoid to join the chronic illness community. You can share your experiences and gain knowledge from those of others. I got my EDS diagnosis started because the lovely people in #NEISVoid referred me to a lot of EDS patients, who all seemed to think that I was a textbook case!

Of course, this still leaves the step where your doctor will work with you and help you get a diagnosis (which is just the beginning as treatment is equally complicated & takes a long time to address each component).

EDS Toolkits

To this end, the best place to start is to use the EDS toolkit for GPs created by Dr. Emma Reinholdt (available here – https://www.rcgp.org.uk/clinical-and-research/resources/toolkits/ehlers-danlos-syndromes-toolkit.aspx).

If you live in North America, The Ehlers Danlos Society has diagnostic criteria for the different types of EDS, which can be found here – https://www.ehlers-danlos.com/ehlers-danlos-info/  – and these are updated regularly.

If you live in the Netherlands and suspect that you may have a connective tissue disorder, pleases share this with your huisarts – https://www.nhg.org/sites/default/files/content/nhg_org/uploads/huisartsenbrochure_ehlers_danlos_syndroom.pdf.

Also, if you live in the Netherlands, a revalidatiearts is your best bet for unresolved/undiagnosed chronic illnesses! So please ask your huisarts to refer you to one. You can use the services of an Ergotherapeut (occupational therapist) in the meanwhile if the waiting time is too long.

These toolkits have a comprehensive overview of how to connect the dots to get to an EDS diagnosis, how to decide which specialist to refer for which parts of the condition, what parts of the condition can the GP treat & how.

Sadly, unless you have a doctor who has had previous experience with EDS, in all likelihood, you would have to do the preliminary detective work of tracking your symptoms and comparing them along the diagnostic criteria, and then present it to your doctor. If you have a doctor who is curious and/or empathetic, it is likely that they will at least consider this diagnosis. If not, I hope to God you can find a doctor who will!

National/International EDS Societies

Finding the EDS charity/organization in your country or a rare disease patient group will be very useful whether or not you have a supportive doctor, to get information about specialists who can treat you. Here are a few:

UK – https://www.ehlers-danlos.org/

Netherlands – https://ehlers-danlos.nl/

USA (and International) – https://www.ehlers-danlos.com/ (You can find a local EDS Association or Charity in the Affiliates/Charity/Support Groups page on this website)

Canada – https://ehlers-danlossyndromecanada.org/

Germany – https://www.ehlers-danlos-initiative.de/home

The EDS Society UK has a dedicated page on how to get diagnosed, including Genetic testing – https://www.ehlers-danlos.org/what-is-eds/information-on-eds/diagnosis/. Genetic testing, while becoming more frequent now, is not always done as a norm. In some countries testing is limited to children and/or people wanting to have children (or have children & wish to know whether they have EDS). Treatment does not necessarily hinge upon genetic testing, however may become necessary when the type of EDS (there are 13) needs to be determined.

The Beighton score, which is the score used to determine your hypermobility especially, is not always the most reliable way to assess/confirm an EDS or hEDS diagnosis. Again, some doctors may want to diagnose you with HSD (Hypermobility Spectrum Disorder) rather than hEDS (Hypermobility Ehlers Danlos Syndrome). I still haven’t figured out where I squarely fall as my GP thinks it is EDS (so that is what sits in my record) but the Genetic clinic rejected a test request stating that it sounded more like HSD!

The Mighty has a detailed article on the process of getting an EDS diagnosis, which I found helpful at times – https://themighty.com/2019/06/eds-ehlers-danlos-syndrome-diagnosis/.

Dr. Spanos has a very useful document that you can work on (first on your own and then along with your doctor) to arrive at a diagnosis. This tool may come in handy and you can find it here – https://alanspanosmd.com/wp-content/uploads/2018/01/I-Think-I-May-Have-EDS.pdf

I hope that this post gives you an idea of where to start looking for help, should you or someone in your life need it.