Author Topic: 27 Good Reasons to get an EDS Diagnosis (Ehlers-Danlos Syndrome)  (Read 42434 times)

Emmerson Elliot

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WHY bother to get an EDS (Ehlers-Danlos Syndrome) diagnosis?
How will that help me?

27 GOOD REASONS


REASON No. 27 Cerebrospinal Fluid Leaks (CSF leaks)
(Late edit February 2017 as a result of important new EDS research)


People with EDS are especially prone to CSF leaks.  These occur as a result of tears in the connective tissue in and around the brain and spinal cord and for other reasons.

CSF leaks can cause devastating symptoms that are exacerbated by orthostasis - being upright - and relieved by 24- 48 hours of lying flat. Symptoms vary but may include headaches and 'fatigue', neck pain, nausea and dizziness.

CSF leak symptoms are very like those caused by POTS and may indeed be one cause of POTS. The CSF leaks often do not show up on an MRI, so you need further testing and expert assessment.

You need to check also for RO - Retroflexed Odontoid Process and Pannus - which can exert pressure on the brainstem and block CSF flow, and Empty Sella Syndrome - which can compress the pituitary gland.
(Get a test for blood Prolactin as a start from your GP/PCP for pituitary function if Empty Sella is present on your MRI.)

Tests -  an MRI of brain and full spine is a good idea initially and then progress to further testing.

An upright MRI is a good idea if you can get one and that would also help your doctors check for Chiari 1 Malformation.
Make sure you get a COPY of your MRI to keep at the time it is done.

The GOOD news is there are treatments for these conditions that help some people lead normal lives again so this is well worth investigating!


See this excellent YouTube clip by Dr Ian Carroll, Anesthesiology, Stanford University for more info:

http://invisibleillnessforum.com/index.php/topic,828.0.html






Now - back to the other 26 reasons to get an EDS diagnosis.


1 EDS is genetic so you may want to know for your kids/grandkids who may get it worse than you - and to avoid passing it on if you plan on kids.


2 There are associated cardiovascular risks which you need to monitor - so, for example, you need to have an echocardiogram at least  every 5 years - for all types of EDS and Marfan Syndrome to rule out aortic arch issues.


3 It is a great relief if you get a diagnosis because, when you understand it, it explains all your symptoms logically and you do not feel like you are crazy, depressed, anxious or have social phobias - EDS has physical reasons for all these issues.


4 They estimate that one in every 100 people have EDS but are just undiagnosed - if we all get diagnosed and the huge numbers with EDS are realised we will get more research and a possible cure. Also if you have relevant symptoms (such as joint hypermobility and fatigue or joint and muscle pains) it is highly likely - given these statisitics - that EDS may be involved.


5 There are great symptomatic management strategies for it once you now what you are dealing with - and getting a correct diagnosis is a basic right, after all so I am surprised doctors even ask patients what difference having a diagnosis will make.


6 You can connect with others who have EDS and related conditions such as POTS and MCAD and CSF Leaks too which is a great relief and a good source of information and to get help with medical information and management ideas


7 There are serious pregnancy risks such as post-partum haemorrhage, uterine rupture and miscarriages which you can be on the alert for. SIDS may also be connected to EDS - not much research has been done there yet but is a distinct possibility - and no other cause is yet known for SIDS.  You might want also want avoid - and have your anaesthetist be aware - that an epidural anaesthetic could cause serious complications from CSF leaks in someone with EDS.  (Lumber puncher is can also be risky  from that point of view.)


8 There are many associated dental issues like poor teeth, dental crowding and periodontitis that you may want to take extra care over - EDSers often need more local anaesthetic for dental procedures for example and anaesthetics can take a little longer to work on someone with EDS


9 Sometimes it helps you realise what other symptoms you DO have - eg you may not know what brain fog is until you read about it and it clicks - "oh yes,  that is those days when I lie in bed all day and can do nothing and feel like i have a hangover for no reason"...same with heat intolerance - why you are worse in the heat?... photophobia (sensitive to light), hyperacousia (sensitive to noise) etc. You may not realise your IBS or GERD or Gastroparesis is connected to EDS as other examples.


10 There are many eye issues associated with EDS such as near-sightedness, detached retina and keratoconus so you may want to let your optometrist/ophthalmologist know about it to be alert for EDS and monitor your eyes carefully and have regular check-ups.


11 It can help if you are giving up smoking to know that nicotine is a stimulant and part of the reason you feel bad is that smoking seems to mask some of your EDS symptoms so you feel better when you smoke....ditto for caffeine which is a vasoconstrictor ....so if you are addicted to coffee or cola drinks or dark chocolate - EDS may be why.....


12 Some of the symptoms - brain fog, crashes, "fatigue", orthostatic intolerance, can feel like depression when they seem to hit you  "out of the blue". These can be relieved by treatments such as rehydrating with electrolytes, wearing compression garments etc and maybe you may not have depression after all....


13 It can help explain seemingly unrelated issues involving multiple body systems. Also why an injury can "move" from one joint to another (e.g. you splint your wrist, and it may cause problems in the neighbouring joints - eg. thumb and elbow  - because all the joints are susceptible to overuse injuries.) Thus you can get appropriate management with knowledgeable healthcare providers (e.g. physios who know about hypermobility and what kinds of treatments to do/exercises to give) and learn joint protection strategies.


14 NSAIDS (drugs like aspirin) could cause excessive bleeding in someone who is already prone to easy bleeding due to EDS so should be taken with caution or avoided.


15 EDS can pre-dispose you to allergies which can lead to a risk or possibility of anaphylaxis.  EDS and allergies are now also being linked to MCAD - mast cell activation disorder - which for many is treatable with new protocols that bring great symptomatic relief (eg H1& H2 receptor blockers - Zyrtec/Zantac Combo etc.)


16 Another one of the symptoms is dysphagia (or difficulty swallowing). So choking on fluids, food or sometimes just your saliva can occur without warning - this of course can also be potentially very dangerous indeed so it is good to be aware of that possibility and be on the alert for it.


17 Clotting issues can be due to EDS and present risk-  DVTs when you fly, aneurysms and cerebral hemorrage are a potential risk in ALL types of EDS  - another good reason for getting (or ruling out) an EDS diagnosis....


18 This point is from Dr David Chorley: "Oh and I just thought of a real life example from my own medical practice (yes I'm a doctor who knows about EDS) : A significant number of EDS patients have blood clotting problems, so I have initiated my own protocol (!) of screening teenage EDS girls for Protein C+S, Anti-thrombin III, Factor V Leiden and homocysteine. Out of my 150 EDS patients I have found about 10 with defects. This is huge because if a young woman goes on Birth Control Pill with a clotting disorder she can have a stroke or myocardial infarct." And this additional point is from Stephanie Miller: "Another blood test to possibly request is APS antibodies. Woman who have had multiple miscarriages in particular should either request this blood test from their GP or see a hematologist. (I had 2 miscarriages years before my PE - pulmonary embolism. No one thought to test me, though, because I didn't know I had other risk factors. I was diagnosed with EDS only 4 months before my PE.)" Note that PE is potentially fatal.

19 People with Factor V Leiden (more common in EDS)
 Factor V Leiden is a protein that increases the likelihood of excess of blood clotting.  If people with this mutation spend a great deal of time on aeroplanes they would be especially vulnerable to the blood clots that occur in long haul flight syndrome. Armed with this information they could either avoid flying wherever possible and also be scrupulous about getting up and stretching frequently during a flight and hydrating well before and during and after a flight etc. Flying is generally not good for people with EDS anyway due to the decompression inside the plane - you might notice that you suffer from severe jetlag after a long flight.


20. Anyone with EDS should totally AVOID fluoroquinolone antibiotics which can cause serious damage to connective tissues like tendons and ligaments. Here is a list of fluoroquinolone antibiotics. http://www.myquinstory.info/know-your-quinolones/


21. AORTIC DISSECTION IS OFTEN MISSED AND MIS-DIAGNOSED AS A (sometimes fatal) HEART ATTACK. (This sadly happened with US actor John Ritter who died suddenly after an aortic dissection and was later found (ie  post - mortem)  to have probably had EDS.)
This is why all types of EDSers need an echocardiogram every few years - at least every 5 years -  to check the aortic arch which can change over time. And also hopefully and MRA to check the blood vessels for aneurysms etc
(John Ritter TV clip interview with his wife - http://www.thedoctorstv.com/videolib/init/1548)


22. If you are planning on giving egg donation or sperm donation you might want to reconsider to avoid passing the disease on. Alternatively to screen the eggs and sperm before fertilisation for the same reason. (This is now possible as a genetic screening tool.)


23.People with EDS have an increased risk of CSF Leaks,  Chiari 1, Venous Hinge and possibly also RO - Retroflexed Odontoid, Empty Sella Syndrome, Tethered cord, Occult tethered cord and Spina Bifida Occulta. So if you have an EDS diagnosis doctors will (hopefully) know to look out for these and test for them.
(Spinal dimples can be an indicator of these latter conditions.)


24  If you have a correct diagnosis you can avoid unnecessary treatments and tests looking for other causes of your symptoms.


25. You can plan your life accordingly if you know what you are facing - for example by choosing a suitable career: You might want to avoid anything that involves regular flying for example, or occupations that can involve a lot of static standing like teaching. You might also want to choose something that has the potential for part-time work options and working from home - now or in the future.
In addition you might want to prepare for your symptoms all getting worse over time and plan your life with the possibility that you may end up severely debilitated (if you are not already) and make financial and practical plans with that in mind as a definite possibility.  Don't plan for that great overseas trip when you retire, for example, as by that time you may not be well enough to do it.
As another example, if you buy a house get one that will have future disability access or be easily modified for such - eg no stairs.)

26. So you can claim insurance for your prostheses and splints etc.





Number 27!  Late edit 2107 as a result of important new EDS research

Cerebrospinal Fluid Leaks (CSF leaks).

People with EDS are especially prone to CSF leaks.  These occur as a result of tears in the connective tissue in and around the brain and spinal cord.

CSF leaks cause devastating symptoms that are exacerbated by orthostasis - being upright - and relieved by 24- 48 hours of lying flat. Symptoms vary but may include headaches and fatigue, neck pain, nausea and dizziness.

CSF leak symptoms are very like those caused by POTS and may indeed be part of the cause of POTS. The CSF leaks do not show up on an MRI often, so you need further testing and expert assessment.

You need to check also for RO - Retroflexed Odontoid Process and Pannus - which can exert pressure on the brainstem, and Empty Sella Syndrome - which can compress the pituitary gland. (Get a test for blood Prolactin as a start from your GP / PCP for pituitary function.)

Tests-  an MRI of brain and full spine is a good idea initially and then progress to further testing.

An upright MRI is a good idea if you can get one and that would also help your doctors check for Chiari 1.
Ask for your own copy of your MRI at the time of testing.

for more info on CSF Leaksin EDS see this You tube Clip
Dr Ian Carroll

Stanford University Anesthesiology - great clip - great info - another great doctor who really gets it.

If you have orthostatic intolerance, fatigue and headaches, then this is essential viewing.
If your symptoms improve after 24-48 hours of lying flat - then you are a contender for CSF leaks as the cause of your symptoms - and treatment interventions may indeed help you.
Dr Ian R Carroll gives his email contact at the end of the clip and ifyou email him he will kindly look at your MRI and send you a list of doctors who are onto this treatment and more info.

   ic38@stanford.edu

http://invisibleillnessforum.com/index.php?topic=828.msg1647#msg1647




Please feel free to copy and share this list widely without acknowledgement - except for Dr David Chorley's excellent point; he would like acknowledgement to remain included please.




EE
« Last Edit: March 10, 2017, 03:46:42 PM by Emmerson Elliot »

Emmerson Elliot

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Re: 25 Good Reasons to get an EDS Diagnosis
« Reply #1 on: August 02, 2015, 08:08:58 AM »





Here is a link to some good Facebook groups for anyone wanting to learn more,
discuss symptoms and treatments etc. 

http://invisibleillnessforum.com/index.php/topic,18.0.html

EE





« Last Edit: February 17, 2017, 12:08:37 AM by Emmerson Elliot »

Emmerson Elliot

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Re: 25 Good Reasons to get an EDS Diagnosis
« Reply #2 on: September 05, 2015, 11:46:31 PM »


A shorter, earlier version - handy  for those who do not want TMI




WHY bother to get an EDS (Ehlers-Danlos Syndrome) diagnosis? How will that help me ?

                                    20 GOOD REASONS 


1 EDS is genetic so you may want to know for your kids/ grandkids who may get it worse than you - and to avoid passing it on if you plan on kids

2 There are associated cardiovascular risks so you need to have an echocardiogram every 5 years - for all types of EDS esp to rule out aortic arch issues.

3 It is a great relief if you get a diagnosis because, when you understand it, it explains all your symptoms logically and you do not feel like you are crazy, depressed, anxious or have social phobias - EDS has physical reasons for all these.

4 They estimate that one in every 100 people have it but are just undiagnosed - if we all get diagnosed  and the huge numbers with EDS are realised we will get more research and a possible cure. Also if you have relevant  symptoms it is highly likely  - given these stats  -  that EDS may be involved.

5 There are great symptomatic management strategies for it once you now what you are dealing with - and getting a correct diagnosis is a basic right.

6 You can connect with others who have it too which is a great relief and a good source of information

7 There are serious pregnancy risks such as post partum haemorrhage uterine rupture and miscarriages which you can be on the alert for.

8 There are dental issues like poor teeth, dental crowding  and periodontitis that you may want to take extra care over - EDSers often need more local anaesthetic for dental procedures for example.

9 Sometimes it helps you realise what other symptoms you DO have - eg you may not know what brain fog is til you read about it and it clicks - "oh yes,  that is those days when I lie in bed all day and can do nothing and feel like i have a hangover for no reason"...same with heat intolerance - why you are worse in the heat?... photophobia (sensitive to light) , hyperacousia (sensitive to noise) etc.

10 There are many eye issues associated with EDS such as near-sightedness, detached retina and keratoconus so you may want to let your optometrist/ophthalmologist know about it to be alert for EDS.

11 It can help if you are giving up smoking to know that nicotine is a stimulant and part of the reason you feel bad is that smoking seems to mask some of your EDS symptoms so you feel better when you smoke....ditto for caffeine which is a vasoconstrictor ....so if you are addicted to coffee or cola drinks.....

12 Some of the symptoms - brain fog , crashes, can feel like depression when they seem to hit "out of the blue " - these can be relieved by treatments such as rehydrating with electrolytes, wearing compression garments etc and maybe you may not have depression after all....

13 It can help explain seemingly unrelated issues involving multiple body systems. Also why an injury can "move" from one joint to another (e.g. you splint your wrist, and it may cause problems in the neighbouring joints - eg. thumb and elbow  - because all the joints are susceptible to overuse injuries.) Thus  you can get appropriate management with knowledgeable healthcare providers (e.g. physios who know about hypermobility and what kinds of treatments to do/exercises to give) and learn joint protection strategies. And you can avoid unnecessary treatments and tests.

14 NSAIDS (like aspirin) could cause excessive bleeding in someone who is already prone to that due to EDS so should be taken with caution or avoided.

15 EDS can pre-dispose you to allergies which can lead to a risk or possibility of anaphylaxis.  (EDS is now also being linked to MCAD - mast cell activation disorder - which for many is treatable with new protocols that bring great symptomatic relief (eg Zyrtec/Zantac Combo.))

16 Another one of the symptoms is dysphagia (or difficulty swallowing). So choking on fluids, food or sometimes just your saliva can occur without warning- this of course can also be potentially very dangerous indeed.

17 Clotting issues can be due to EDS and present risk-  DVTs when you fly, aneurysms and cerebral hemorrage are a potential risk in ALL types of EDS  - another good reason for getting (or ruling out) an EDS diagnosis....

18 This point is from Dr David Chorley: "Oh and I just thought of a real life example from my own medical practice (yes I'm a doctor who knows about EDS) : A significant number of EDS patients have blood clotting problems, so I have initiated my own protocol (!) of screening teenage EDS girls for Protein C+S, Anti-thrombin III, Factor V Leiden and homocysteine. Out of my 150 EDS patients I have found about 10 with defects. This is huge because if a young woman goes on Birth Control Pill with a clotting disorder she can have a stroke or myocardial infarct."

19. Anyone with EDS should totally AVOID fluoroquinolone antibiotics which can cause serious damage to connective tissues like tendons and ligaments. Here is a list of fluoroquinolone antibiotics. http://www.myquinstory.info/know-your-quinolones/

20 AORTIC DISSECTION IS OFTEN MISSED AND MIS-DIAGNOSED AS A(sometimes fatal) HEART ATTACK (as sadly  happened with US actor John Ritter who died suddenly after an aortic dissection and was later found (ie  post - mortem)  to have had EDS)
This is why all types of EDSers need an echocardiogram every few years - at least every 5 years -  to check the aortic arch which can change over time. And also hopefully and MRA to check the blood vessels for aneurysms etc
 http://www.thedoctorstv.com/videolib/init/1548

(Please feel free to copy and share this widely without acknowledgement - Except for Dr David Chorley's excellent point; he would like acknowledgement to remain included please.)

Emmerson Elliot

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Re: 25 Good Reasons to get an EDS Diagnosis
« Reply #3 on: October 25, 2015, 08:42:02 PM »
One example of life planning that I would have done if I'd known previously about my potential for getting EDS

Is I would have organised to get a house/unit with a swimming pool - even if just a plunge pool


Being in deep water is very good for us as it stimulates the lymphatic system and put fluid back into the venous blood supply ....which boosts the blood volume. it possibly helps in csf circulation as well - not sure yet.


It is also an excellent way to regulate body heat to stay cool in summer because the transmission of heat is more effective in water than it is in air.

Or to say another way:
cold water will cool our body faster and for longer than being in a cool breeze like using a fan o it is a great way to stay cool inn summer heat or hot climates.


Possibly for these reasons above any exercise done in water is very good for us and seems to have much less payback than land-based exercise.


If doctors knew this they might prescribe being in water as a treatment before they are quick to suggest "exercise" or GET as a treatment - which is not helpful for many of us as far as ameliorating our condition.  GET is certainly not going to help a CSF leak!



EE
« Last Edit: February 16, 2017, 04:04:40 AM by Emmerson Elliot »

Emmerson Elliot

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Re: 25 Good Reasons to get an EDS Diagnosis
« Reply #4 on: October 25, 2015, 08:49:58 PM »
To expand a little on the point that it is our basic human right to get a correct diagnosis




Can you imagine going to a doctor after you had developed a rash or red spots

And the doctor saying
"well you got some kind of red spot disease....
Could be  measles or mumps for something
It might be infectious or it might not; it might be genetic or it might not.
Think positively.
Why do you need to know specifically? What difference would that make?
Why do you need to chase a diagnosis?
Do some exercise and lose weight and you will get better.
Eat more fresh fruit and vegetables!
It is probably caused by stress.
You look a bit anxious actually.  Maybe it is just anxiety.
You look  well to me!"


Sounds ridiculous doesn't it?

And yet that's precisely what happens to many of us because doctors don't recognise the seriousness of our condition or the extent of our symptoms.



Also many doctors often tend to minimise women's health problems. 

Not all doctors I hasten to add; there are some brilliant doctors out there and some helpful and caring and supportive ones ....but the majority of us have had experiences with at least some doctors who are not so supportive or are not as interested or up-to-date with the research as they might be.

Most doctors stop you after three symptoms. People with EDS often have as many as 50 symptoms.

Write out a full symptom list, hold on to it and take it with you to appointments in case you are asked.



EE



« Last Edit: March 02, 2017, 12:52:50 AM by Emmerson Elliot »

Emmerson Elliot

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Re: 25 Good Reasons to get an EDS Diagnosis
« Reply #5 on: November 29, 2015, 11:37:53 PM »
Additional comment sent in by a reader - thanks SK




Learning about your reactions to medications AND having doctors take it seriously... to avoid being mislabeled with tons of other disorders that have stigma like hypochondria and drug seeking

To avoid major problems in surgeries like waking up due to fast metabolism of anesthesia

To avoid major complications like injuries and esophageal tears that can be fully disabling or fatal because you did not know about it

To avoid being arrested or losing your children due to being accused of child abuse if your children are sick often or have a lot of bruising like you

I think one of the most depressing parts of when I got diagnosed was that for me? Nothing changed on my end -- all of my symptoms were exactly the same and I understood them the same. I'd been diagnosed with hypermobility, anaphylaxis and a ton of other things -- but it wasn't until I was diagnosed with EDS that the doctors in the hospital or ER did not treat me horribly for the first time in my life. Finally, I got treated with a modicum of respect.

I still had plenty of times they couldn't help me, and that sucked -- but at least they weren't also rude while not helping me. And that makes a difference.


Sheilah Kring. 

« Last Edit: December 01, 2015, 05:44:20 PM by Emmerson Elliot »

Emmerson Elliot

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Re: 25 Good Reasons to get an EDS Diagnosis (Ehlers Danlos Syndrome)
« Reply #6 on: January 05, 2016, 08:07:22 PM »

You may also want to reconsider offering to be an egg donor or sperm donor if you know you have Ehlers-Danlos Syndrome  Genes in the family

 - EDS is  NOT something you want to pass on for a happy life and genetic testing will not exclude it at the moment alas.




PS apologies for the many  typos which occur here -  I dictate on SIRI which is often inaccurate and I  have episodes of blurry vision which makes re-reading difficult at times....
EE

Emmerson Elliot

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Re: 27 Good Reasons to get an EDS Diagnosis (Ehlers-Danlos Syndrome)
« Reply #7 on: July 13, 2017, 09:41:44 PM »
A further 2 important reasons have been brought to my attention

 When you have an anaesthetic the anaesthetist needs to know about EDS for a couple of reasons

 Firstly they  need to know if your jaw is likely to dislocate as they open your mouth to insert the breathing apparatus

 Secondly they need to take special care of your neck if there is any potential for CCI / Chiari etc  so that they do not do any damage there 

 Other risks - such as  slow wound healing,  anaesthetic resistance and an increased tendency for surgical wound dehiscence  I think have been indicated above

EE