Wednesday, August 10, 2016

Could You Have Ehlers Danlos Syndrome?

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With Ehlers Danlos Syndrome frequently undiagnosed or misdiagnosed, it's important that people know the signs of the genetic syndrome.  It's estimated that 1 in 2500 to 5000 have Ehlers Danlos Syndrome or EDS, but so many people, including doctors just don't know what it is.  It's also estimated that 50% of people who are diagnosed with fibromyalgia actually have EDS.

Could you have Ehlers Danlos Syndrome?



My Diagnosis Story

I've had unexplained pain throughout my body ever since I could remember.  Despite asking many doctors about the pain and the other weird symptoms such as an extreme sensitivity to heat, chronic fatigue, dizziness, buckling knees, difficult pregnancies, and so much more, I was never able to get an answer.  So I chalked it up to being a wimp and went about my life.

And then my youngest son, Davy was born.  He seemed fine for the first few days other than having some minor abnormal features such as a sacral cleft, high arch palate, a small recessed chin, and a crumpled ear but then things started going downhill.  He began refusing his bottles and constantly sounded junky and wheezy when he breathed.  At 2 months of age and weighing only 8 pounds, he was hospitalized for failure to thrive.  During that time, he had surgery for a G Tube placement.

Could you have Ehlers Danlos Syndrome?

During Davy's first year, he was diagnosed with failure to thrive, feeding difficulties, GERD, tracheomalacia, MRSA on his G Tube site, MSSA in his lungs, eczema, mild developmental delays, a hole in his heart (which thankfully closed on its own), hypotonia, and dysmorphic features.  He was hospitalized 5 times and spent countless hours at appointments with his specialists.  Genetic testing yielded no answers.

In desperation, we switched to a different health care system where Davy received the diagnosis of an unspecified connective tissue disorder, in part due to his joint hypermobility.

When Davy was around a year old, I posted a picture of his hypermobile ankle on Instagram and someone asked if he had Ehlers Danlos Syndrome.  I started researching it and was blown away, not only at how well it fit him, but also at how it described me perfectly as well.

Could you have Ehlers Danlos Syndrome?

At Davy's 2 year checkup with his geneticist, I asked about Ehlers Danlos Syndrome and told her that I suspected I had it.  It was like a lightbulb went on in the room.  During the summer of 2016, my 8 year old daughter Katie, 6 year old son Nano, and I were all diagnosed with Ehlers Danlos Syndrome.  Davy cannot be diagnosed until he gets older, but he's being treated as if he has it since we're pretty sure he does.

Being told I had an incurable, degenerative disease made me cry, but they were tears of joy because all of a sudden, my whole life made sense.


How To Tell If You Might Have Ehlers Danlos Syndrome.

So how do you know if you have Ehlers Danlos Syndrome?  Geneticists use the Beighton Score and the Brighton criteria as a part of diagnosing EDS.  You can see where you rate on each one and get a sense of how likely you are to have EDS.  If you think you do have it, please talk to your doctor so you can be formally diagnosed.

Could you have Ehlers Danlos Syndrome?


The Beighton Score measures your hypermobility.  A score of 5 out of 9 indicates hypermobility (I have a score of 8/9), but doesn't necessarily mean you have Ehlers Danlos Syndrome.  There are a lot of other factors to consider which is where the Brighton Criteria comes into play.  If you're not able to do the things on the Beighton Score now, you still count the points if you could do them at some time in your life.
  • You get one point for each pinkie finger that bends backwards at least 90 degrees when your hand is palm down on a flat surface.
  • You get one point for each thumb that touches your forearm when you bend it backwards.
  • You get one point for each knee that bends backwards.
  • You get one point for each elbow that bends backwards when your arm is extended with you palm facing up.
  • You get one point if you can put your hands flat on the ground while bending over and keeping your knees straight.
Other good questions to ask yourself are if you ever "showed off" as a child by twisting your body into strange shapes or if you consider yourself to be double jointed.

Once you've figured out your Beighton Score, you can go on to the Brighton Criteria.

Available in the Sunshine and Spoons Shop

The Brighton Criteria consists of 2 major points and 8 minor ones.  Ehlers Danlos Syndrome is a possibility if you have both of the major criteria or one major and two minor criteria, or four minor criteria.  I have both major and four of the minor criteria.

Major Criteria
  • A Beighton score of 4/9 or greater (either currently or historically)
  • Arthralgia (joint pain) for longer than 3 months in 4 or more joints
Minor Criteria
  • A Beighton score of 1, 2 or 3/9 (0, 1, 2 or 3 if aged 50+)
  • Arthralgia (> 3 months) in one to three joints or back pain (> 3 months), spondylosis, spondylolysis/spondylolisthesis.
  • Dislocation/subluxation (partial dislocation) in more than one joint, or in one joint on more than one occasion.
  • Soft tissue rheumatism. > 3 lesions (e.g. epicondylitis, tenosynovitis, bursitis).
  • Marfanoid habitus (tall, slim, span/height ratio >1.03, upper: lower segment ratio less than 0.89, arachnodactyly [positive Steinberg/wrist signs].
  • Abnormal skin: striae (weird, unexplained stretch marks), hyperextensibility, thin skin, papyraceous scarring.
  • Eye signs: drooping eyelids or myopia or antimongoloid slant.
  • Varicose veins or hernia or uterine/rectal prolapse.
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How to tell if you might have Ehlers Danlos Syndrome: http://bit.ly/2bgFhGt
http://ctt.ec/4aHGl
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What's next?

The next step is to talk to your doctor about what you've found.  Since many doctors don't know much about Ehlers Danlos Syndrome or think that it's diagnosed by having stretchy skin (which is a symptom of EDS, but not something that everyone has!), it's important to educate yourself on it before your appointment.  It helps to print off the Beighton Score and Brighton Criteria along with literature from a reputable source such as The Ehlers Danlos Society or Ehlers Danlos UK.  Ehlers Danlos is best diagnosed by a geneticist for which your doctor should be able to give you a referral.  If your doctor won't listen or take you seriously, it's time to find a doctor who will.

Could you have Ehlers Danlos Syndrome?

I've Been Diagnosed. Now What?

If you've been diagnosed with Ehlers Danlos Syndome, I highly recommend joining a support group.  There are many local support groups on Facebook or you can join any of the following Facebook groups:
Ehlers Danlos Support Worldwide EDS/POTS/MCAD/Chiari
Raising Children With EDS-Ehlers Danlos Syndrome
Good North American Doctors for POTS/OI/EDS/ME/cfs/Chiari/MCAD/RA/GP/Hashis

The books found here are also very useful for learning how to live with Ehlers Danlos Syndrome.
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What happens after you've been diagnosed with Ehlers Danlos Syndrome: http://bit.ly/2bgFhGt
http://ctt.ec/4aHGl
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If you have children, you have a 50% chance of having passed EDS on to them so it's important to get them evaluated for EDS as well.  Relatives should also be notified as Ehlers Danlos is a genetic syndrome that is passed down in families.

Being told you have an incurable, degenerative disease is scary, but knowledge is power.  Having a diagnosis can make such a difference in your treatment plan and overall mental wellness.

If you know someone who struggles with chronic health issues or who meets any of the criteria for Ehlers Danlos Syndrome, please pass this on to them.  Getting a diagnosis is so important!






Get your Ehlers Danlos Syndrome Awareness bracelet here!


9 comments:

  1. I think I need to see a doctor. With the posted Beighton criteria, I got 6 and my hips slide in and out of joint if I am not careful.

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  2. Hello, from a fellow "bendy zebra". I have type 3 with a whole bunch of overlapping symptoms of other types. It took 14years of doctor fighting and exhausting every possible treatment that was supposed to make me better. After seeing the geneticist, everything made sense and I was very relieved to have an actual diagnosis to prove that it wasn't all in my head. Along with the typical symptoms of EDS, Dysautonomia decided to kick my butt. I ended up with a g-tube because of gastroparesis,cyclic vomiting and severe dysphasia. Then came the PortaCath to assist with hydration and TPN as a back up option to the gtube feeds. Every single one of my joints all subluxation and dislocate countless times everyday. It keeps life interesting,that's for sure. I'm glad you finally got answers and what looks like great resources. I live in Canada, so we started our own support/resource group that has done a lot of growing because of an insane amount of advocacy. I have an EDS blog if you're interested, www.flexabilityandcreativity.blogspot.com. It's been a while since I've posted something, but I've been busy keeping my body in the best possible condition so I could avoid more hospital admissions and get closer to doing things that I loved in my pre-EDSy body. I really want to get back to writing again, so please feel free to light a fire under my butt if you like the blog. It's had a lot of traffic and readers haven't said anything negative, and instead tell me it's good, so I'm going to take their word for it. I'm glad we've been able to connect, my bendy friends and I joke that if it weren't for social media we would all be dead. I hope you and your family feel like a million dollars and injury free. happy Friday!!!! :Nakki*

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    1. Hi Nakki!
      It's nice to meet a fellow zebra! I will definitely check out your blog :)
      Social media has been a godsend with getting diagnosed and finding support. If it hadn't been for that comment on my son's ankle on Instagram, I would probably still be looking for answers.
      Thanks so much for stopping by!

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  3. OMG !!! you are exactly describing my son's case. He is 10 months old. Can I be in touch with you. I really want to know people who have the same case so we can share experience with each other.

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  4. OMG !!! you are exactly describing my son's case. He is 10 months old. Can I be in touch with you. I really want to know people who have the same case so we can share experience with each other.

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    1. Hi! Yes, please email me at hannah@sunshineandspoons.com if you'd like to talk!

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  5. Found you looking up failure to thrive and EDS because I am taking my daughter 8yo to get diagnosed by the doc who diagnosed me! She had a spot between 7 and 9 months old where my father called her 'concentration camp' baby (thanks Dad!) because she failed to thrive, I always assumed it was the birth control I started taking tanked my milk supply (yet I pumped ok); she all of a sudden wasn't getting enough and we started her on baby food and formula to supplement. Now I 'm wondering if it wasn't all caused by birth control, maybe it was her EDS somehow? I dunno but this thought bugs the hell out of me.

    Prediagnosis when she was born, she would snap crackle and pop when I picked her up and that's how I knew she was mine! She sounded like rice crispies like I did. Now that I know what I (and consequently she) has, I feel terrible about all the subluxing she must've gone thru just from routine handling. I take w me to my chiropractor appts now so she can get everything popped back into place, so she can run and be a kid. I have some really not so fond memories of childhood bronchitis that would leave my back hurting for days, weeks and months and it's taken me decades and a great Chiropractor to understand I was routinely walking around with subluxated ribs from every coughing cold I got in winter.

    Anywho Reddit has an active EDS sub that I highly suggest - https://www.reddit.com/r/ehlersdanlos/

    Another valuable site to me is Scholar.Google.com, this searches medical journals using Google algorithms and you'd be astonished at what you can find there about EDS!

    Good luck w your kiddos ~ Another EDS Mum

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    1. Thank you so much for sharing those resources! Failure to thrive is common on infants with EDS (I had it as well) so that could very well be the reason your daughter lost so much weight as a baby.

      My kids sound like rice crispies too :) I think it's safe to say that that's normal for EDS children.

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