Ehlers-Danlos Syndrome Awareness Month: My Life as a Zebra

May is Ehlers-Danlos Syndrome Awareness month, and this is one of the rare diseases I am diagnosed with. So I’m taking a moment to depart from the topic of corn allergy to give you some info about it.

eds awareness

Ehlers-Danlos Syndrome (EDS) is a group of heritable connective tissue disorders. EDS causes weak or defective collagen, which can affect many systems within the body- basically anywhere you have connective tissue. There are many types of EDS, and all of them involve joint hypermobility (double-jointedness), fragile tissue, and fragile/easily-bruised skin. Some types of EDS such as Vascular Type can cause arterial or organ rupture because the connective tissue of the organs and veins are weak.

The type I have is Hypermobility Type, which is the most common type. And actually “rare disease” is a misnomer since it is estimated that 1 in 5000 people have this particular type. It’s more that it’s rarely diagnosed.

Hypermobility EDS, or hEDS causes:

  1. Frequent joint subluxations or full dislocations.These subluxations pinch nerves which is incredibly painful, and will damage the joints leading to arthritis and other chronic pain over time.My experience with this is relatively mild: I mostly have subluxations and not full dislocations, which is why it took me so long to realize the cause of my pain. During an average week, I have at least 4 large-joint (usually right shoulder, right hip, and left knee) subluxations that cause me to limit my range of motion due to either the subluxation making it anatomically impossible, or pain from a pinched nerve. I have calcium deposits in my rotator cuff and hip sockets from frequent subluxations. I do not do any athletic activities, these injuries are from normal daily tasks. My finger and hand joints subluxate pretty much hourly (or more) while doing basic tasks, and several of my finger and hand joints now have calcification causing limited mobility and joint pain from years of subluxations. I am just now getting fitted with some splints to keep my finger joints from moving around so much. At first I’ll be using some oval-8 splints that you can buy from the pharmacy, but I’ll be seeing a hand specialist soon to look into custom made silver-ring splints.
  2. Skin bruising and hyper-extensibility.This means super-stretchy skin that bruises and scars easily.Again, my manifestation of this is mild compared to many cases- I bruise easily and have a “perpetually young” look– I was carded for an R-rated movie on my 29th birthday, and at age 38 still have twentysomethings still assuming I am their age or younger– but my skin isn’t super-stretchy and my scarring is more than some but not terrible.
  3. Organ damage and weakness.hEDS does not have the same severity of organ weakness as vascular type, however mitral valve prolapse and associated heart problems, hypotension due to vascular weakness, interstitial cystitis, and organ prolapse are relatively common.This is something that has affected me lifelong and gets worse as I age. I’ve had “old lady” swollen ankles and legs since I was a toddler, and have symptoms of a couple different kinds of organ malfunction that are common in EDS.
  4. Chronic pain.Pretty much everyone with EDS has some level of pain. Young children may not, but only because they haven’t yet damaged their hypermobile joints. In many cases this is due to degenerative arthritis and muscle spasm caused by subluxations, as well as neuropathic (nerve) pain from both, and for unknown “other” reasons.Again, compared to others, my symptoms are not terrible. They are there, and this affects my daily life, but I really do know people who are much worse off regularly. I would say my average daily pain level on a 1-10 scale is about a 4, with spikes up to a 6. It is never below a 2, even when sleeping.
  5. Comorbidities.Since EDS causes weak/defective connective tissue, many other conditions related to connective tissue often coexist with the disease. The list of common comorbid conditions is long, but the ones that I deal with are POTS (postural orthostatic tachycardic syndrome) which is basically an inability to regulate heart rate and blood pressure when getting up from a seated or prone position, and MCAS (mast cell activation syndrome), which is essentially an immune system malfunction that leads to the severe/life-threatening allergic reactions to basically anything and everything. Both of these are in fact related to my defective connective tissue, although the MCAS connection is a strange one that is still being researched. My EDS diagnosis was a side effect of seeking diagnosis and treatment for MCAS, which affects my life in more more severe and restrictive ways. My corn allergy is in fact related to the MCAS, and my mentions in the blog of “other problems” would mostly be the MCAS symptoms and triggers that I have no proof of being connected to corn.

Why the Zebra?

I’m going to go ahead and quote the Ehlers-Danlos Society verbatim:

People with the Ehlers-Danlos syndromes and hypermobile spectrum disorders (HSD) often identify themselves as zebras.

Medical students have been taught for decades that, “When you hear hoofbeats behind you, don’t expect to see a zebra.” In other words, look for the more common and usual, not the surprising, diagnosis.

But many of us spend years pursuing a diagnosis for disorders that aren’t well known. Or aren’t expected in someone who looks normal, or is too young to have so many problems, or too old. Or even, what we might have is considered too rare for anybody to be diagnosed with it.

So the zebra became our symbol to mean, “Sometimes when you hear hoofbeats, it really is a zebra.” Ehlers-Danlos syndromes are unexpected because they’re rare. Hypermobile spectrum disorders are common, but are unexpected because they remain misdiagnosed or under-diagnosed.

For more information on EDS, please visit The Ehlers-Danlos Society.

For more information on MCAS, you can start with this blog post on MastAttack as a primer: MCAD: General information for public, and then follow up with a visit to The Mastocystosis Society.

For more information on POTS, visit Dysautonomia International.

 

zebras

3 thoughts on “Ehlers-Danlos Syndrome Awareness Month: My Life as a Zebra

  1. Thank you so much for this article. I Have EDS also. I’ve had multiple connective of tissue surgeries and hereditary gallbladder disease. I see a DNFT Chiropractor weekly (no cracking). I’m intrigued by the McAS. I too have life threatening food allergies. I have never heard of this disorder and am going to do research. Over time, my food allergies have progressed and now almost everything I eat causes some type of reaction. Thank you so much for this article.

    Kind Regards,

    Tammy

    >

  2. This made me feel not so freakish and alone. I am a Zebra who is allergic to corn! It’s aggravating explaining to people that yes I can have all these things “wrong” with me, and no that doesn’t make me broken or piteous. Finding a person who has a blog that I can reference is relieving; I cannot help but smile knowing that somewhere there is someone who just gets it.

Leave a Reply

Fill in your details below or click an icon to log in:

WordPress.com Logo

You are commenting using your WordPress.com account. Log Out / Change )

Twitter picture

You are commenting using your Twitter account. Log Out / Change )

Facebook photo

You are commenting using your Facebook account. Log Out / Change )

Google+ photo

You are commenting using your Google+ account. Log Out / Change )

Connecting to %s