Beginners Guide to EDS

So you think that you, or someone you know (your child perhaps) has Ehlers Danlos Syndrome (EDS)…  I am hoping that this page will be a good starting point for you to start your own research and a point of reference for talking with your own professionals.

Please note that I am not an expert – I have EDS, as do my two children, and I have spent a lot of time researching and talking to our own professionals – but I hold no degree of any kind in this area – I am a consumer only, not a professional, and anything you take from here should be a starting point only.  Always – ALWAYS – talk to your own professionals before deciding how to deal with EDS.

My first hint –

***Beware of anything that talks about “Benign Joint Hypermobility Syndrome” – this information is more than likely outdated, as the term itself is outdated.

So I guess, the first place to start is – what is EDS?

Definition

Ehlers Danlos Syndrome, or EDS, is a genetic, degenerative, connective tissue disorder which affects collagen production.  Collagen is the body’s “glue”, so people with EDS are, quite literally, falling apart at the seams!  It can affect every single system in the body, however it’s main characteristic is hypermobile joints.

Symptoms

Joints: joint hypermobility; loose/unstable joints which are prone to frequent dislocations and/or subluxations; joint pain; hyperextensible joints (they move beyond the joint’s normal range); early onset of osteoarthritis.

Skin: soft velvety-like skin; variable skin hyper-extensibility; fragile skin that tears or bruises easily (bruising may be severe); severe scarring; slow and poor wound healing; development of molluscoid pseudo tumors (fleshy lesions associated with scars over pressure areas).

Miscellaneous/Less Common: chronic, early onset, debilitating musculoskeletal pain (usually associated with the Hypermobility Type); arterial/intestinal/uterine fragility or rupture (usually associated with the Vascular Type); Scoliosis at birth and scleral fragility (associated with the Kyphoscoliosis Type); poor muscle tone (associated with the Arthrochalasia Type); mitral valve prolapse; and gum disease.

(From What Is EDS)

A more comprehensive look at symptoms can be found at So You Think You May Have EDS.

Diagnosis

The first point of diagnosis is known as the Beighton Score.  The Beighton Score looks at whether a person can do the following:

  • Placing flat hands on the floor with straight legs
  • Left knee bending backward
  • Right knee bending backward
  • Left elbow bending backward
  • Right elbow bending backward
  • Left thumb touching the forearm
  • Right thumb touching the forearm
  • Left little finger bending backward past 90 degrees
  • Right little finger bending backward past 90 degrees

A score of 4 out of 9 is “technically” considered a positive indicator for EDS (according to some medical websites), however, from my own reading, it seems that most professionals require a score of 5 before taking things further (such as Brad Tinkle – an EDS expert based in the UK).  NOTE – it is not what you can do “today” that matters so much – it is still a positive score if you could previously do one of these, however no longer can due to disability, stiff muscles, etc.

My advice

***While doing this test may seem simple enough, I recommend having a professional take a look too – I never would have considered that I would pass the “elbow bending backward” parts, however my geneticist pointed out that mine actually do!

The next step incorporates the Beighton Score and is known as the Brighton Criteria.

The Brighton criteria

The Brighton criteria take into account your Beighton score, but also consider other symptoms, such as joint pain and dislocated joints, and how long you have had them. There are major and minor Brighton criteria.

Major criteria

The major Brighton criteria are:

  • having a Beighton score of four or more, either now or in the past
  • having joint pain for longer than three months in four or more joints

Minor criteria

The minor Brighton criteria are:

  • having a Beighton score of one to three, or having a Beighton score of zero to three if you are over 50 years of age
  • having joint pain for longer than three months in one to three joints, or back pain for longer than three months, or spondylosis (spinal arthritis) or spondylolisthesis (where one small bone in your spine slips forward over another bone)
  • dislocating, or partially dislocating, more than one joint or the same joint more than once
  • having three or more injuries to your soft tissues, such as tenosynovitis (inflammation of the protective sheath around a tendon) or bursitis (inflammation of a fluid-filled sac in a joint)
  • having particular physical characteristics called Marfanoid habitus – this includes being tall and slim and having long, slim fingers
  • having abnormal skin, such as thin and stretchy skin
  • having eye-related symptoms, such as droopy eyelids or short-sightedness, having swollen and enlarged veins (varicose veins), or a hernia (when an internal part of the body pushes through a weakness in the surrounding tissue wall) or a rectal or uterine prolapse (where an internal organ slips down from its usual position)

Joint hypermobility syndrome may be diagnosed if you have:

  • two major criteria
  • one major criteria and two minor criteria
  • four minor criteria
  • two minor criteria and a close relative, such as a parent, who has been diagnosed with joint hypermobility syndrome

(From NHS Choices: Joint Hypermobility)

The Beighton and Brighton only determine whether or not you are hypermobile.  Next, we come to our first point of argument among the professionals…

Some professionals believe that you can be hypermobile and not have EDS, while others believe that if you are hypermobile then you have EDS Hypermobility Type at least, if not a more “severe” type that simply hasn’t presented itself yet.  Many people I have spoken to have had the same problem I myself endured – a professional who agreed that we were hypermobile, but did not seem to think that we had EDS because we had no heart trouble (common with one type of EDS, and often the only type of EDS that professionals know about).  One woman I spoke to told me that she was told she couldn’t have EDS because she wasn’t in a wheelchair!  Such beliefs are, at best, outdated, and at worst – complete and utter nonsense!!!

An excellent article to read, print out, make notes on, and take to your medical professional of choice – Ehlers Danlos Syndrome – Hypermobility Type

So, what types of EDS are there?

Different Types of EDS

There are six main types of EDS:

Hypermobility Type (formally known as Type 3)

Classical Type (formally known as Type 1 or Type 2)

Vascular Type (formally known as Type 4)

Kyphoscoliosis Type (formally known as Type 6)

Arthrochalasia Type (formally known as Type 7A and 7B)

Dermatosparaxis Type (formally known as Type 7C)

There are also types 8, 9, 10, and 11 (Type 11 has since been removed from the EDS classification).  These types are very rare, some with only one known family in the world presenting!

My advice

***Get tested to determine for sure whether you have EDS, and if so, what type.  If testing is not available (such as in Australia to the best of my current knowledge), then find an expert in EDS, or at the very least, do your own research.

*** If at all possible, get diagnosed by a geneticist (as opposed to a GP or rheumatologist).  A geneticist diagnosis carries more weight with government departments, and as EDS is rare enough, this could mean the difference between receiving help, or not.  Remember too, that EDS is a degenerative condition – so even if help is not needed now, it may well be in the future!

*** This is one condition where it is normal to “doctor shop”, so don’t feel bad if you need to do so.  Few doctors know enough about EDS to be useful.  Keep looking until you find one that does.  And always back up their expertise with your own research (unless you know that this is their interest area, and they are keeping up to date with current developments – we are starting to see a real growth in our knowledge base for EDS – every year sees new developments!)

*** When going for a diagnosis – Take the whole family!!!  Individually, my boys and I have different signs of EDS, but together, we paint one hell of a picture!  If you have kids, take them.  If you have relatives with signs or confirmation of EDS, write it all down and take that.

My personal story

***My family has not been tested to determine which type of EDS we have.  The geneticist we saw, while excellent, did not have time to take a detailed history, and so while he assumes we are at the “lower end of the scale” (i.e. either Hypermobile or Classical Type), the complications I am personally having would indicate otherwise.  Until such time as testing is available to us, I have taken the following precautions for my kids:

  • A medic alert bracelet to state that they have EDS as there is a risk of organ rupture, bleeding out, poor response to local anaesthetics, etc.  (Contrary to popular belief, anyone in Australia can order a Medic Alert bracelet or necklace online – you do not need to have special permission from a medical professional, however it does help if one confirms your details with them).
  • A five yearly echo-cardiogram and ophthalmologist test.
  • In depth discussions with teachers and care-givers about what things to look out for in regards to injury, as well as strict instructions on rest breaks etc.

I am not going to definitively assume that we have a more severe type per se – however I am prepared for it!

Treatment

So now that you know that you (or someone you care for) has EDS – what do you do?

Research!

In Australia in particular (although relatively relevant for other countries as well), there are no “EDS experts”.  Not one.  None.  There are quite a few people who have taken an interest, however none can claim “expert” status.  This isn’t to say that your local GP isn’t going to be a treasure trove of information, as they may well be.  However, always back up a professionals advice with some research of your own.

Also – back up the research you do yourself, with confirmation from a medical professional!

My personal story

***My GP knows enough about EDS to know that my family has it, however she knows little of the details of living with it (particularly my complications).  Unless we were to sit down for a day and hash it out (which I can’t afford), there is no way for her to reasonably take care of me.  Thus, we have worked out a way of doing things – I do my research and figure out what is going on in my body, and what I need to do about it, and then I go to her when I need her to sign off on tests (or such).  I present my case, she agrees or not, and orders the tests (or not).  When I need a form signed, I fill it in, she reads it over, and signs it if she agrees.  If something is out of her knowledge base (such as the link between EDS and sleep apnoea), then I will present online confirmation from a reputable source (or we Google it together).  If something is outside of my knowledge base, and online opinions are conflicting, I will go to her for advice.  We have a partnership.  In some ways it is a lonely way to do things – I would love to just go and be told what is going on and what to do about it some days – but in other ways, it is great to have that control and know exactly (or as close as we can get) what is going on.

***My previous GP, while a lovely person who genuinely cared, was simply not interested in finding out what was wrong with me.  In her mind, there was nothing we could do (true), so there was no point (not true).  What she didn’t realise is that not only do I have a personal need to know what is going on, but I couldn’t get help (such as a support worker, a wheelchair, bathroom modifications etc) until I had a diagnosis letter!  We went years without support!!!  I also ended up doing physiotherapy without realising that this would worsen my condition rather than help it.

My advice

***Work WITH your medical professionals!  Do not assume that their knowledge is all that they think it is, even if they are lovely people.  Do your own research as well.

***Back up your own research with confirmation from a medical professional!  None of us are perfect, and it’s not fun being scared of something that may not be applicable to our individual circumstance.

Take It Easy!

It takes time, but when things start to get painful, it can be hard to find that happy medium between continuing your life, and overdoing it.  It will take some time (up to a couple of years even), to find that medium.  People may assume or insist that you can do this in a week or two – they are delusional, and I find it is best to nod and be polite, and then ignore them.  Some things will be painful one day yet not the next.  Some things will hurt in different ways.  Some things will hurt in summer but not in winter (and vice versa).  It takes doing them over and over to learn how they will affect you in all different ways.  And even when you think you may have it, you may end up having a decline (or even get a bit better! – it’s not unheard of), and have to start all over again.

So – take it easy!  Be kind to yourself.

Please read this: The Spoon Theory .  People with chronic illness often refer to themselves as Spoonies.  Some even get a tattoo of a spoon (I am saving for mine!).

Sometimes, even people with other chronic conditions will not understand what it is like to have EDS – especially if their chronic condition is the stable kind.  This is no one’s “fault”.  It just is what it is.  People do not understand and other than gentle advocating, there really isn’t much we can do to help them understand.

Another good read is this piece on Facebook.

My advice –

***This is a condition where it pays to be under-confident rather than over-confident.  If you have spoons left at the end of the day, then great!  Running out at noon because you have over-extended yourself is NOT a good place to be!

Again – people are going to have a hard time understanding this.  If you could do something yesterday, then why not today?  Surely it must just be laziness?  Or they will comment about your attitude…  We all cop that we have a bad attitude at some time or another, and it can really hurt!  The fact is though that a positive attitude isn’t going to take the pain away.  It isn’t going to make you all better.  It isn’t going to stop that subluxation, or that dislocation.

***If you find that people’s expectations of you (or for you) is all getting a bit much, then this is a must read – We’re Not Here For Your Inspiration.

Specialists

EDS affects everyone in different ways, even within the same family.  You may end up needing all of these specialists, and you may end up needing none of them.  These are the most common ones.

Please note: all specialists usually have a paediatric version of themselves somewhere that specialise in children.  A paediatrician is usually a good place to start, as well as oversee and manage ongoing care, if the EDSer is a child.

Geneticist – Geneticists are able to diagnose EDS, however few will actually take you on as a regular client.  Ensure you keep copies of all correspondence – especially your diagnosis letter!

Rheumatologist – Rheumatologists deal with connective tissue disorders such as arthritis (generally speaking – official definitions can be found elsewhere on the net), and so are the usual regular specialist to see in order to deal with the everyday EDS issues.  Most EDSers have a rheumy on their team to oversee their progress and management.  Most are even diagnosed by a rheumatologist, however I personally recommend being diagnosed by a geneticist if possible (possibly this is just me being snobby though *grin* – if you already have a diagnosis from a rheumy, don’t stress – if you need one from a geneticist later, you can get one later!).

Please note: Rheumy’s have notoriously low knowledge of EDS (backed up by research presented at an EDS conference in the UK in 2011), despite it falling under their speciality umbrella.  Be aware that their information may be outdated, if they are aware of EDS at all!!!  Take care, and don’t be afraid to shop around.

Cardiologist – If an EDSer has heart problems (especially prevalent in EDS Vascular Type), then they will need monitoring by a cardiologist.  Regular check-ups (every five years or so, perhaps more for children) are recommended for all EDSers however, just to be safe!

Neurologist – EDSers quite often have Dysautonomia – autonomic nervous system problems, usually, but not always, POTS (Postural Orthostatic Tachicardia Syndrome), and will see a neurologist to diagnose and manage.

Endocrinologist – Endocrinologists deal with the thyroid, and thyroid problems are common for EDSers (both hypothyroidism and hyperthyroidism).

Gastroenterologist – EDSers can have stomach issues, particular Irritable Bowel Syndrome, and more dangerously, Gastroparesis.  A gastroenterologist is the go-to person for these issues.

Dietician – If your stomach issues are not severe enough to see a gastroenterologist, then a dietician may be able to help you find a diet that calms your symptoms down.

Dentist – Dental issues need to be monitored with EDS, as many will be prone to gum disease and other dental problems.  Dentists need to be made aware of the risk of excessive bleeding, and that local anaesthetics may not work as usual with people with EDS.

Opthalmologist – Eye problems are also an issue for many EDSers – particularly lens dislocation and astigmatism.  Regular checks (every five years or so) by an opthalmologist is a good idea!

Please note: An optometrist does not have the expertise nor the equipment usually, to conduct these tests for EDSers.

Podiatrist – A podiatrist will check out your feet and recommend whether you need shoe inserts or not.  Even if you do not flat feet (but especially if you do), it is worth a visit to see if you should be adding support to your shoes.

Physiotherapist – This is a tricky one.  Physiotherapy is considered nearly essential for people with EDS.  The problem is that “normal” physiotherapy can do more damage than good.  The physiotherapist needs to be aware that any physiotherapy needs to not place strain on joints in any way.  Water exercise is the best!!!

Occupational Therapist – An occupational therapist can help with finding ways of doing things that takes into account any limited mobility, or concerns about joint strain.  They can also sometimes offer exercises similar to the way a physiotherapist would.  They are the people you will need to see in order to get your child’s school to make accommodations for their EDS, or your workplace.  They can also assess you at home to ensure that you are doing everything possible to limit damage to your joints.  I would recommend that all EDSers have an OT assessment as required.

Orthopedic Surgeon – Orthopedic surgeons deal with muscular skeletal issues.  These are the guys you see when things get REALLY bad and you need reconstruction surgery or whatnot.  That being said, it is possible they may also be recommended so that things do not progress that far, if the referring doctor thinks that they can help.

Dermatologist – A dermatologist deals with skin issues, and as EDSers can have very fragile skin, it may be necessary to see a dermatologist for treatment.

Others – Then there are all the organs that can have trouble, which have their own specialists etc etc etc…  As I said, these ones listed are the ones that most people I know have seen, and quite a few of them are ones that I have either seen, or should see.

Natural therapies – Some people find that certain natural therapies work for them.  I am not a believer, however if it works for you, then go for it!

And last but not least – your General Practitioner.  All I can say is – find a good one as you may be seeing them very frequently!!!

These specialists are the people you should be talking to about your EDS.  They are the experts in the how the body works after all.  I am however, going to list some tips and hints below that come from experience with EDS – something your specialist may not have.  I am not recommending any of these things per se – always consider your own situation, do your own research, consult your own professionals and make your own decisions!!!

A note on pain specialists: Through reading of others experiences, and my own experiences, I have the opinion that pain specialists specialise only in neuropathic pain.  Our pain is not neuropathic pain.  It is often referred to as chronic pain (which IS neuropathic pain), however it is not.  It is chronic in nature sure, but it is not “Chronic Pain” per se.  It can more accurately be described as “Chronic Acute Pain”.

Chronic Pain, otherwise known as Neuropathic Pain, is pain from an injury that does not get better after three months.  After three months, it is assumed that the injury itself is better, so any pain is an issue with the nervous system.  This is not our issue.

Our issue is that we injure ourselves in new ways every day, and so constantly have Acute Pain – we chronically have Acute Pain.  We do not have “Chronic Pain”.

And so, when we tell a pain specialist that we have Chronic Pain, they treat us as they usually treat people with Chronic Pain – abysmally.  Even if they are generally nice people however, they probably do not understand the exact nature of what is going on for us – few of them will have any knowledge of EDS.

By all means, see one if you want – I did – but if it doesn’t work out, then don’t take it personally!  If it DOES work out, let us know, so that we can see them too!!!

Another note: People with EDS can also end up with neuropathic pain, especially it seems, Fibromyalgia.  If you think you may have Fibromyalgia, the specialist you need to see is a rheumatologist.

Tips and Hints

Organisation:

***Buy yourself a ring binder, some sheet protectors, and some dividers.  I divide mine per diagnosis (I also have Aspergers etc), and then, in the EDS section, I divide according to each EDS related diagnosis (Irritable Bowel Syndrome, Thyroidism, joint issues, Sleep Apnoea, etc).  I also keep a separate folder for general disability related stuff (such as respite, memberships to various organisations, receipts for equipment, government payments and services, etc).

***Keep EVERYTHING, and make sure you get all test results and diagnosis letters sent to you as well (or make copies to keep).  Doctors change positions lose things, and move etc, and it is far easier to simply keep your medical file with you, rather than have to continually run around looking for who has what when you need something.

***EDS is generally degenerative, so plan ahead.  This does not mean that you need to be all melodramatic and start planning your funeral, but buying a high-set house should probably be off the table once you have a definitive diagnosis (I speak of this from experience lol).  Have a “just in case” or “back up” plan in place for major life decisions.

***Declutter your house.  As (and if) things do get worse, then a clean, organised house is much easier to take care of!  I recommend reading It’s All Too Much by Peter Walsh.

Children:

***Schools need to be aware of what is going on with your kids.  I print out An Educator’s Guide for my kids teachers each year, as well as a copy for the office.  It is American, however the general information is relevant to any country.

***Engage a good Occupational Therapist or Physiotherapist to ensure that your kids are getting as much exercise as possible.  The more muscle tone, the less pain (generally speaking).  It needs to be the “right” exercise though!

General Information:

***I personally recommend the purchasing of a Medic Alert bracelet or necklace for anyone with EDS, particularly if you have a more “serious” type, or have not been tested.  Complications in emergencies can include (but certainly not limited to) organ rupture, excessive bleeding, and local anaesthetic failure at normal doses.  All things that medical professionals should be aware of, and things that you may be in no position to tell them.

***Water exercise is generally considered the best form of exercise.  Personally, if I had the means, I would invest in a pool and use it daily!  Hydrotherapy pools and heated pools are particularly awesome, as the water is heated, and therefore your body doesn’t tense with the cold (which can render any exercise useless anyway).  I find the lack of gravity in water helpful in getting dislocated joints back in, as well as a general pain reliever.

***Heat packs and thermal braces are also good for pain relief.

***Many people with EDS find that “normal” MRI’s do not show up issues they are having with their spines.  There is a real push in the US in particular at the moment, for MRI’s to be “Upright MRI’s” for people with EDS.  At this stage, there is one Upright MRI in Australia, and it is located in Sydney.  It is worth talking to your health professional about whether this would be a preference for you if you have back issues and require an MRI.

***Find a good online forum to visit and ask questions.  There are many groups for EDS on Facebook as well as other online forums that specialise in EDS.  These can be a treasure of information.  I have not gone into too much specific detail in this guide, as I wanted to keep in relevant to most, and EDS presentation is individual to each person that has it.  It is impossible to cover everything, and even if I have the same problems as you, I may have them in a different way, or different things may work (or not work).  I am happy to answer questions via email to the best of ability, however I am not yet ready (nor qualified) to write a novel on it all *wink*.

***There is a book out on Hypermobility Syndrome by Brad Tinkle, an EDS expert based in the UK.  It is called Joint Hypermobility Handbook, and it goes into details of personal management etc – it is definitely worth a read!

I hope that this helps you somewhat.  If you have any questions, feel free to email me at lindamadhatter at gmail.com.  Likewise, if you feel that there is something that needs to be added to this introduction to EDS, let me know so that I can include it.  And if you feel that I have stated something that you feel is incorrect, I also welcome the feedback and will consider revising.  And check back every so often – things change – so I will update as is necessary.

9 comments on “Beginners Guide to EDS
  1. Thank you for your description of “chronic acute pain”. I have never heard it described that way, but it explains a lot and explains it well!

  2. Another night owl like me! I was going to ask more about your comment about the link between sleep apnoea and EDS. Do you have any links to info on that?

    The interesting thing in my family is it appears the ASD comes from one side of the family, and the EDS comes from the other side. The side with EDS (diagnosed as JHMS) is also the side with sleep apnoea as well.

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