12 Things I’d Tell You About Ehlers-Danlos Syndrome

12 Things I'd Tell You About Ehlers Danlos Syndrome

Ehlers-Danlos Syndrome is a very poorly recognized connective tissue disorder that is much more common than doctors realize currently. 

 It affects all parts of my body from head to toe in almost countless and extremely varied ways, but not all to the same degree, making it so hard for doctors to recognize.

There are six main forms recognized now (as of 2016), but there are several one-off mutations, and new ones are discovered all the time.

Only five of the main types have genetic markers for them, so the last and most common type by far, Hypermobile EDS (HEDS), which I have can only be diagnosed clinically by a knowledgeable doctor who recognizes all the aspects of it, including how common it truly is.

They should also know when to suspect one of the rare types, especially the most common dangerous form, Vascular EDS which can result in sudden death from ruptured inner organs or vasculature.

All forms can can and do injure easily, even if not always visibly to the outside world. We sort of “age early” on the inside while “looking great” on the outside.



Ideally it is best to see a geneticist for this so you can rule out other very similar heritable (genetic) connective tissue disorders.

They often end up looking a lot alike and share several overlapping signs and symptoms, so it’s not easy to tell at first glance especially Marfan Syndrome and Osteogenesis Imperfecta (“brittle bone” disease).

Because EDS is genetic, even though I may have seemed fine to you in the past, and still do sometimes when you see me, it’s a lifelong condition I can’t cure.

And it can suddenly “onset” or advance at almost any time in our lives, not always at birth.

Mine became “clinically” visible at 45 when I suddenly became wheelchair bound for no apparent reason in three weeks after slowly weakening all my life prior.

But some never have a major problem or ever get triggered, so continue to go undiagnosed.

It can vary in presentation. Not just between different families, but even my own family members have experienced it quite differently.

And, even more confusingly, my own condition and presentation can vary literally from day to day, and month to month which is very confusing for my friends and doctors.

I can seem just fine or even great one day, and be wheelchair or bed bound again the very next, especially if I over did it the day before.

My joints can give out at any time, seemingly on a dime, so I may need to use a cane or crutches or a disabled parking spot, even if I look okay at the moment.

I can also be weak from low blood pressure which can also suddenly fall, dropping me to the ground – literally.

So even if my joints are holding together and I’m not wearing braces or using a crutch, I may suddenly get weak or dizzy and need to sit.

This is why you see us getting in and out of wheelchairs and scooters at the store a lot – we don’t need them all the time, but when we do, we really do!

EDS is extremely painful in every way you can imagine and almost any part of the body can hurt, but the pain is rarely “visible” to doctors on scans and tests because it can involve micro-tears, minor subluxations and mild demyelination that don’t easily show up, along with inflammation and increased CSF pressure.

Most of us get diagnosed with Fibromyalgia first, and while this isn’t technically inaccurate, leading doctors increasingly agree this is just one manifestation of loose connective tissue, fascial issues and some demyelination.

Some of us do find we also have actual auto-immune driven MS, but all forms of demyelination and CRPS – and the resulting burning pain and neuralgias – are quite common, sadly.

We are often depressed from multiple causes, both primary organic depression from neuro-inflammation and imbalanced neurotransmitters and nutrient deficiencies.

But our depression is often also caused or compounded by our pain and a lot of invalidation from misinformed and doubting doctors and even family members and friends who can’t seem to believe us without some kind of measurable “proof” or visible marker.

We often end up with low self-esteem from this, and struggle to want to reach out after a while.

Many of us are on the Autism spectrum, or related to someone who is.

We can experience a higher baseline anxiety level accordingly, along with all forms of ADD, OCD, SPD and mixed mood disorders that are common with autism of any form.

This can be amplified further by extra “allergy” type reactions (in addition to regular IgE-based allergies), from frequently co-morbid but even more rarely recognized Mast Cell Activation Diseases (either actual Mastocysosis or the new poorly known but much more common form called Mast Cell Activation Syndrome).

MCAD can present like an anxiety attack as we experience milder stages of anaphylaxis from our reactions.

This can also cause sudden mood swings and irritability we really dislike, and don’t mean to share with you. We really appreciate you sticking by us as we go through this! Especially as this is even more poorly known by most doctors and nurses yet.

MCAD causes us to react to virtually any and everything including heat, cold, sunlight, stress and vibration in very strange and unexpected ways.

Even seemingly “benign” or harmless substances that you’ve never heard of anyone reacting to before, like fluoride or red-food dye.

We’re sort of the canaries in the coalmine, right?

Please believe us when we ask you to avoid wearing scents, or to not offer us certain foods or drinks.

We may not react the same way every time – it may depend on our stress, pain and hormone levels and states.

I can eat chicken most of the time, but if you stress or rush me enough, I will get an esophageal spasm.

Some chemicals or foods are an absolute no-no, and we really appreciate you understanding our boundaries when we set them and politely refuse you.  It is not personal, we promise!

We also react in very strange and paradoxic ways to any and all medications.  We are probably the people that generate black box warnings!

So please don’t offer us any medications or over-the-counter remedies unless we ask for them, thanks.

We have also tried virtually every alternative remedy and therapy you can throw at us, and found few of them to work, or not well since we can’t re-write our DNA and produce strong tissue from it again.

While some supplements and therapies help to varying degrees, there is no true cure, and no single approach that works best for all of us.

It is really exhausting to hear yet another suggested solution, however well-intentioned.

We find the best help from online support groups of fellow patients who understand just how challenging and intractable this condition is.

But we appreciate your care and concern! We just can really use your shoulder and ear the most often, thanks.

If we seem like fragile or unpredictable friends, it is because we are, but not by choice!

We would love nothing more than to join you for all the fun activities you invite us to, and sometimes we will. But usually for a great and often hidden price.

Remember, you usually only see us when we’re well enough to be up and out, or have enough pain medication and anti-histamine on board. So it’s hard to realize just how sick we really are.

If you do want to come see us when we’re down, bring a bowl of popcorn – if we’re not allergic! – and a good book as we’ll likely be passed out in bed recovering or icing various bits and gasping like a fish in pain!

But we feel you’re worth it, so don’t stop inviting us out. Just understand when we have to cancel at the last minute because we may have woken up feeling fine, but subluxed a rib or ankle sometime during the day or succumbed to anaphylaxis and suddenly can’t join you this evening.  We are truly with you in spirit!

Thanks so much for your patience and understanding and validation. These will all go a long way to helping us enjoy what we can of our painful lives with this challenging condition.

We look forward to seeing you soon!

 Jan is an HEDS, MCAS and dysautonomia survivor and writer, working hard to keep walking while trying to increase awareness through her writing. You can learn more about all of the above at http://ohtwist.com

Learn more at The Ehlers Danlos Society 

Are you living with a chronic illness? Would you like to share your experience? Contact me at vicky@livingthediagnosis.com, I would love to help you tell your story!

9 thoughts on “12 Things I’d Tell You About Ehlers-Danlos Syndrome

  1. I had no idea there was a condition like this. Your article made my jaw drop and I have no idea what to say.
    Well done, for spreading knowledge about it, and I hope you feel better at most of the time.

  2. Thank you for reading! I am always amazed at how many conditions there are people live with every day that I have never heard of! Jan is amazing and I'm so grateful to her for sharing with us! Cheers!

  3. Hi Brittany! The more I learn about EDS, the more I am amazed at those who live with it each day, it seems so painful. I will pass this along to Jan! Thank you for reading! Cheers!

  4. I have EDS Classical and Hypermobility types and I am so relieved to have read this. I learned that I am not alone in my suffering of burning pain I get deep burning pain within both of my knees and have been getting this since I was a child. The pain is so debilitating that I can literally do nothing for 24 hours or more and sometimes the intensity makes me feel that if I could just cut my leg off the pain would stop (sorry for the horrible explanation but that’s just how it feels). No other way to explain this. On a pain scale it is a 12 out of 10 if there is such thing. Just so glad now that you have validated here that I am not alone. Do you have a name for this kind of pain Jan?

    1. Hi Corrine, I am so sorry to hear about your pain. I hope someday they will find a way to end this chronic debilitating pain so many face. I will pass this along to Jan!

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