EDS- A rare condition or a rarely Diagnosed condition?

I am starting to think a little radically about EDS.  For many years, EDS was considered to be a  ” rare joint and skin” disease. But we known now that it is a connective tissue disease. Connective tissue that runs through our entire body and can impact multiple systems.  But EDS is still considered to be fairly rare.  I am here to say that I am starting to call that into question.

The standard stats say that about 1 in 5,000 births is an EDS birth. Maybe there is a status in being a ” medical zebra”, but I think there is more influence in being recognized correctly.  Since my diagnosis, I have had 5 families of  people cross my path, stand up and say ” Hey I have that”. Or “my sister has that” or “Wow. I have all of those symptoms, I am getting evaluated too”. These are people I have known in different parts of my life, in different physical locations and none of them because of EDS ( i.e., not the people I have met who blog about EDS, in doctor’s offices, etc..). Most of those 5 have multiple family members who are diagnosed or who share symptoms.  I did not identify them, they self identified to me. This is not a case of me having a hammer and having everything look like a nail.. None of them are member of my extended family. ( in my extended family, I am starting to look for nails…)

If the ratios are correct that would mean I know at least 25, 000 people. That is simply not the case. Yes, I know a bunch of people… but NOT 25, 000  😉  Lets go way overboard and say I know 5,000 people ( not a chance).  That would put the odds at about 1 in 1,000 Births. Significantly lower. However, the most I have talked about this is on Facebook.  On Facebook, I have less than 500 friends,  but we will round to 500. Two of the people are from local connections and discussions off of Facebook. So let’s double that number- that means about 1,000 people had a chance to know I was talking about EDS and /or to hear the symptoms  that I was discussing.  If every single one of them was fully informed and self aware, that would put the ratio in my circle of friends at 1 in 200 births.  Now consider that about a quarter of the people that I am friends with on Facebook are family to whom I am genetically related and I am not counting those EDS or suspected EDS cases ( which would, I suspect, skew these numbers to a ridiculous proportion). That drops that percentage to 5/900. Then factor in that both on Facebook and in real life, you are doing well if half the people you know are informed. That would drop the percentage to 5/450..  or 1 in every 90 births.   Talk to me again in about a year, I bet I have stats that indicate that this is even lower.   That puts EDS into 1.1% of all the non-family births I have crossed.   The frequency of redheads in the US is 2%.  That make EDS a little more than half as common as being a red head- doesn’t sound like much of a zebra to me.

Now, most of these 5 are NOT currently suffering joint problems that cause them to seek medical treatment. So why should I care if there are undiagnosed EDS cases ( or silent EDS) in the world? Because all but one of these indicated they have or have had some other problem that was likely related to their EDS ( IBS, Ruptured membranes and pre-mature births, heart problems). All of them indicated some joint problems that were either mild and never needed treatment or were temporary and they have learned how to cope with them ( dislocating knees they wore braces for, frequent sprains, etc..).

We know that EDS has varying levels of impact on people.
There are also more and more studies being released that show that previously non EDS diagnosed patients being seen for other medical issues ( especially GI issues)  evaluate as EDS when they look for it.

Why do I think it is so important for us to find the silent cases? 

Because so much of EDS treatment is either preventive or maintenance. The earlier people know about it, the sooner they can make smart choices in life and potentially avoid some of the problems- or be informed about other possible implications and not be surprised or puzzling or mis-diagnosed ( frequent with EDS) and suffer longer than needed.

What do I think this means?

I think that at some time in long ago human history, there was some advantage to being flexible( other than  that… ), or there is some linked trait that took the EDS cluster of mutations along for a ride.  The truth is that science still knows very little about the genes involved with EDS, so it is hard to say why it was propagated.

  • People then did not live much past 40, so they did not get hit hard with the impact that aging has on EDS, and it had no impact on their reproductive years.
  • People long ago for the most part  were active and physical ( true even up until 40 years ago or so), so they did not see the bad impact that couch potato/long car commute/desk job syndromes) are causing on EDS today. It is telling that one of the biggest treatments for EDS is to workout.
  • People then rarely had the opportunity to eat huge bloating meals that extended their stretchy GI tract or caused other issues. 

What does this mean for you ?

Maybe nothing.  But if :

  • you are currently being treated for a heart arrhythmia or valve problem ( NCS, POTS, WPW or MVP)
  • you are currently being treated for IBS or any sort of spastic GI problems
  • you get treatment or suffer from chronic constipation
  • you suffer from chronic muscle/joint aches/pains or weakness
  • you get frequent sprains/strains/dislocations/ tears or  bursitis in your joints
  • you are treated for or have GERD 
  • If you have had or have TMJ
  • If you are being treated for Restless Leg Syndrome
  • If you had an unexplained stroke or CV event
  • If you had incompetent cervix or ruptured membranes.

It might also be worthwhile to see if you also have any of the following:

  • A Beighton Score of 4 or higher ( or even lower if you are >50)
  • Pes planus ( foot may look like it has a great arch, but flattens and outer foot grips the ground when weight bearing)
  • Atrophic scars ( thin, wide scars that tend to spread or get stretch marks over time)
  • Wounds that dihisce (cuts or burns that  separate even further before healing)
  • Thin, translucent skin that you can see veins through easily
  • Easy/Frequent Bruising
  • High, narrow pallete
  • Teeth with very deep grooves
  • Teeth that break or crack easily
  • Clumsy as a child or Teen ( or maybe still now)
  • Cigarette paper skin ( with me this shows as thin very wrinkling extra skin at elbows and knees)
  • Any history of EDS in your family
  • Bladder or Uterus prolapse
  • Hernias of any kind

If you answered yes to two or more off these, it might be worthwhile getting evaluated by someone who is a specialist and knows EDS well.  Not because there is a miracle cure ( there is not)- but because knowledge is power and it allows you to make good decisions about your life and lifestyle.   Yes, there are lots of people with GERD or IBS or Heart Problems without EDS. I am NOT saying that you have to have EDS to have those things. There are lots of root causes for common medical problems.  But it is possible that you have one or more of those… and do not know you have EDS.

4 thoughts on “EDS- A rare condition or a rarely Diagnosed condition?

  1. GREAT POST! I'm on the waiting list to see a genetic specialist with a background in EDS. I was diagnosed by my orthopedic surgeon, and my general physician agreed with his diagnosis. Since learning about EDS, I've realized one friend from high school has it, a friend's cousin has it, and my next door neighbor has it!

  2. Miss Muddy Paws, Seems like every time I turn around, someone else pops up. Wanting to change the way we talk about this. Not a disease, as much as a variant. No treatment, can't cure- need to alter lifestyle and expectations. Like being really tall or really short. I am @roguepuppet on twitter, if you want to connect.

  3. Hi,I am waiting to be diagnosed with EDS, have beighton scale score of 7/9 and all the other tell tale signs. I also have POTS, thanks for your post Rach xx

  4. I love your blog, you are such a fighter!! You give me hope, I am waiting for my diagnosis but I have all the symptoms. Greetings from Belgium, Europe!

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