Getting an EDS Diagnosis – EDS Toolkits

I was diagnosed with Ehlers Danlos Syndrome (EDS with hypermobility and POTS – Postural Orthostatic Tachycardia Syndrome) in January 2021. The time, process & energy it took to get there was exhausting! 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! So I’ve put together the list of steps, resources, etc. that you can use if you are still on the way to diagnosis (or even after that, for certain practical purposes).

Getting an EDS Diagnosis – EDS Toolkits

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.

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 an 18 month delay in diagnosis. That is 18 months of my life I spent thinking that I was either dying or a hypochondriac. 

This 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).

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/. This testing 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

Treatment Plan

Creating a treatment plan for EDS is extremely crucial for staying on top of the myriad of symptoms that our bodies throw at us. Starting from the number of medical professionals we have to see, coordinating the appointments, testing & follow ups, keeping track of medications & any contra indications (as one specialist might prescribe something without taking into account what another specialist has given) to the issues that need to be addressed (& in order of priority), we need a clear plan.

Being fed up of feeling overwhelmed, I created a simple word document listing all the types of symptoms I have, the practitioner(s) who treat them, the treatment/medication, follow up (i.e., issues to be addressed, next appointments, etc). I update this every 2 to 4 weeks along with my GP so that we stay on top of things. I will soon put up a downlink on the blog for this. I got my diagnosis only a few months months ago & we suspect it will take another 6 to 8 months for a concrete treatment plan to be arrived at. Until then, I expect this process to be rigorous but I’m hoping that after that it will be more manageable.

You will most certainly be seeing different types of physicians and therapists. Whoever you see, please make sure that they a) acknowledge and recognize your EDS b) understand what it means c) take it into account in the context of the treatment that they are proposing. For example, EDS patients need to be treated differently when it comes to surgery – our joint hypermobility & delayed healing tendencies need to be taken into account, as well as the fact that we may not respond adequately/normally to the regular anesthesia used during surgeries.

Work with your GP to find the right supplements that will help you & not just medication, as it is becoming increasingly clear that supplements help us just as much, if not more, as medication. Inform your dentist, if you have POTS, to raise the dental chair up/down slowly, dim the lights if possible (if you have migraine tendencies). Work with your dentist & GP to figure out the right type & dose of local anesthetic (especially if you have MCAS), as you may need a higher dose as an EDS patient if you don’t want to feel the drill!

An occupational or physical therapist who insists on Graded Exercise Therapy or advices against braces because they will make muscles/tendons weak is probably not the right one for you! Find one who can help you with bracing and gentle stretching/exercising, and help regulate your breathing. From #NEISVoid, I’ve learned that https://www.silverringsplint.com/ is great for splints & https://bodybraid.com/ is very useful to keep everything in place. You can find splints and braces on amazon or in a local medical shop (Vegro or Medipoint in the Netherlands). In the Netherlands, working with a Revalidatiearts could be your best bet!

I hope this post has been helpful and if you have found it to be so, please share & follow me on my social media!