Being Diagnosed with #EDS


Crack open the champagne, my #spoonie friends. The day many of us dream about for years has finally come upon me. I’m happy to announce after 17 years of desperately seeking answers to my myriad strange health problems, I finally have a definitive diagnosis that not only fits my entire health history, but that of my family for many generations. I indeed have Ehlers-Danlos Syndrome(EDS).

For those of you who read my blog and understand how well I’ve researched this illness and understand the problems I have, this probably comes as no surprise to you and you probably understand how elated I am. To those who have EDS and been through the experience of finding out what EDS is long before finding someone who was qualified to diagnose it, you probably understand perfectly well the bullets I sweated prior to my appointment. To be denied a diagnosis as your body literally falls apart and you collect one comorbidity after another like it’s some kind of “gotta catch ‘em all” game, is to be denied proper care, validation of your condition and your feelings, and one of the loneliest feelings in the world.


Until you’ve been through it, it’s hard to understand how being diagnosed with an incurable genetic disease is cause for celebration. What I’m celebrating is not the disease. It’s the validation. It’s the access to care. It’s having a name for what I have that I can use with absolute confidence. It’s about no longer having any doubts or getting pushed around by anymore doctors who tell me I just need to “lose some weight” (more on that later). It’s about having a community of other people who have the same diagnosis. Most importantly, it’s about knowing the right measures to take to care for myself properly, preserve what mobility I still have for old age and try to make the best of the life I’ve been given. I am Zebra Strong.

How to Find a Specialist

For all of you still seeking diagnosis, don’t give up! Keep searching for a qualified specialist. It may be easier than you think and YOU ARE WORTH IT. Don’t let all the doctors who have put you off due to their own lack of initiative put you off. Ask your GP. Contact the Ehlers-Danlos Society to see if they have a listing of any doctors in your area. If not, search for a list of rheumatologists and geneticists start making calls. Ask if a doctor in the group knows how to diagnose EDS, whether they take adults and if you need your GP to refer you. Call your local hospitals. Call the hospitals and doctors in the closest major metropolitan area. Join Facebook support groups for EDS (such as EDS Today, EDS-Zebras Need Zebras) and ask for doctor recommendations in your area or if anyone knows of a support group in your area. That’s what I did and eventually found out that there’s actually a local zebra group that maintains a great doctor’s list! My local group was very hard to find. The doctor I saw was 15 minutes away, but it took me a year to find her. I wasn’t looking hard enough.

For my diagnosis, I saw a rheumatologist qualified to diagnose EDS. Unfortunately, there are still a lot of rheumatologists who aren’t trained, but luckily she and everyone in her practice is. I still need to go through the genetic testing, but unfortunately geneticists are in short supply in this country and those who work with adults are even rarer than the diseases they work on. The doctor who diagnosed me and I disagree a bit on the state of my loose skin and she has diagnosed me with Hypermobile EDS (hEDS), so I want to complete the genetic testing to be sure. Personally, I feel it’s best for everyone with EDS to be armed with all the information they need and that means getting the testing done to know your type and genetic mutations and what they mean.

Preparing for an Appointment

Once you have an appointment, it’s very important to be prepared. Arrive with a full personal health history and as much of a complete family history as possible, making sure that you cover as much of the EDS criteria as possible. I printed everything up using bulleted lists and gave it to the doctor’s assistant so she could review it along with my paperwork. Be sure to include everything from comorbid conditions, to stretchy skin and early hypermobility to poor proprioception to frequent colds or infections. Anything and everything matters, no matter how small you might think it is. Start on it weeks ahead of time and go back to it every time you think of something new to add. Mine was three pages long and I didn’t even include any information that was outside of EDS diagnosis since she was part of my regular healthcare system had access to the typical information provided to doctors in network.

If they send you paperwork ahead of time, be sure to fill it out. If not, be sure to take a list of all your CURRENT AND FORMER medications, have the names of all the doctors you’ve seen previously (huge, I know) and be prepared to answer questions about your worst pain, daily pain, when it occurs and how often, along with your current strategies of care. Also be prepared with a list of things you want help with, questions and next steps.

Finally, do your best to leave your past grudges behind. Usually by the time we get to the right specialist for diagnosis, we have been beaten, battered and abused by the system, but remember this is a brand new doctor who has never met you and never done you any wrong. Having suffered enough abuse of my own to have some white coat syndrome. If this is the case, try some of these tactics:

In the weeks leading up to your appt:

  • Ask a friend or relative to join you for moral support and to act as your liaison, preferably someone who is calm and well organized. Discuss with them your concerns and list of questions so they can help you stay on track and make sure everything important gets covered
  • Begin gathering any paperwork, tests, imaging and gathering information you will need for your visit

The day before:

  • Review your list of questions and goals for the appointment and review your paperwork.
  • Put all your paperwork, medications and/or anything else you need to take with you in one easy location by the door to prevent any last minute hunting.
  • Bathe and choose your outfit. Make sure everything you want to wear is clean and ready to go.
  • Take time to meditate, exercise or do deep breathing exercises, whatever you do to try to keep your anxiety under control.
  • Get a good night’s sleep, ensuring you treat your pain properly and taking whatever you need to ensure a good night’s rest (sometimes a benedryl does the trick).
  • Even if your appointment is in the afternoon, set your alarm. Don’t leave appointment day open to surprises.

The day of:

  • Give yourself extra time to get ready. Look presentable and let the doctor know you care about this appointment. It’s okay if you’re too sick to do much, but make what effort you can for your level of ability. Wear clean clothes.
  • Arrive early, even if you don’t have any paperwork to fill out. If traffic is bad, the prospect of arriving late an missing your appointment will only increase your anxiety. If it’s good, this will give you a little time to hang out in the parking lot and meditate or do some breathing exercises, it’s all a win. Don’t like those ideas? Sit in the waiting room and read a magazine or look at your favorite cat videos on your smart phone, but don’t get involved in FB drama or interact with anything that could be detrimental to your mood. This is your time to RELAX.
  • Even if you’re nervous and shaking, remember to smile at EVERYONE. We react to what we see and if you smile at someone, they’re going to smile back at you. A smiling face can be really reassuring!

Questions or Comments? Don’t hesitate to ask and be sure to join me on Facebook or Twitter!

One thought on “Being Diagnosed with #EDS

  1. I hate to say congratulations at confirming you have a devastating genetic disease – but I know exactly what you mean: knowing is BETTER. Having the doctors face the incontrovertible evidence and validate your self-diagnosis is BETTER. Care depends on that – maybe there is some help.
    It’s real. You have it. Now you can get on with dealing with it.
    The medical establishment, including insurance companies, will have to admit you have it and cover treatment.
    I hope this gains you everything you need.

    Liked by 1 person

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