Wednesday, 5 March 2014

If you think you have Ehler Danlos Syndrome...

I wrote this post in September 2011 and I think its such an important post ( my god that sounds so boastful!) In helping others get the diagnosis that they need that I'm reposting it today.

I am having laptop troubles at the moment, so far all of my blogs this year have been composed on my tablet but I need to get onto my laptop to sort some bits and pieces out with my blog. There's a post I want to write but I need the laptop as I'm struggling to post links etc as I'm just not very computer savvy!So here's the original post from September 2011 oh and a picture of Frankie boy for all his fans!

 I am writing this in response to a comment from my last posting. I haven't had a brilliant week so I am sorry I haven't posted before.

This was the comment....

"I have recently met someone who believes she has EDS...she has hypermobile joints, migraines, and the other day a very sudden onset of complete fatigue !!! What a mess ???I am finding it hard to understand all she is going through..why is she not diagnosed...would it make a difference if she was ??/ Apparently has always been 'double-jointed' and had 'growing pains' as a child..Some days you wouldn't even know she was afflicted but this only lasts for a few days...she is about five foot one, petite, dark hair and huge dark a bush baby...does this sound familiar to anyone.... on Changing the course of other peoples lives whilst stuck in bed!"

So what do you do if you think you have EDS? The lady mentioned in the comment certainly sounds like she could have EDS, migraines are extremely common in EDS - another big clue in my family as my parents and sister suffer with migraines as do I. Plus our paternal grandmother also suffers with them. The hypermobile joints are the biggest give away.

The best thing to do before even approaching your Dr about the possibility that you have EDS is arm yourself with information. There is an excellent web site with the diagnostic criteria for EDS which can be found here the beighton-score/scale go through these diagnostic criteria honestly and objectively and mark what applies to you. Print them off as well to take to your Dr to show them that your joints range of motion is beyond that considered normal.

Unfortunately many Dr's are still working under the misguided notion that EDS is extremely rare, the figures they used to work on were 1 case in 20,000 in the population. Recent research shows its around 1 person in 5,000, with many leading doctors in the field thinking this is a conservative figure with many cases of EDS being undiagnosed and many medical practitioners believing that a condition called Benign Joint Hypermobility Syndrome is actually Ehler Danlos syndrome 3 (or hypermobility).

EDS is a syndrome so its not one size fits all, many people live with the condition all their lives displaying very few symptoms other than they seem uber flexible. Others live in constant pain, crushing fatigue and find their mobility is severely compromised due to it. Hence due to the wide range of symptoms many people slip under the radar when it comes to being diagnosed.

EDS at the moment seems to be the illness de jour in Britain, with many popular TV programmes covering the condition and raising its profile in the general population. Not all portrayals have been positive but raising the conditions profile can only lead to more people being diagnosed.

So you've had a look at the diagnostic criteria and your symptoms fit, where do you go from here?

The first thing would be to book a double appointment with your GP, so that you aren't rushed and they are not under the pressure of seeing a patient every 7 mins. Take copies of the diagnostic criteria with you  clearly marked with what applies to you. A good GP should be open to your ideas about your condition and wants to work with you. Hence why I had to change GP's this year, if I had stayed with my old GP I would still be without a diagnosis and heading for psychiatric care. If your GP doesn't listen to you see another member of the practice and keep seeing them until someone listens. If no one is willing to entertain the possibility move to a different practice. You are allowed to move GP practice's and you won't get into trouble, some people find that prospect daunting but if they aren't listening to you what option do you have?

Once you have a GP on side they may be reluctant to make the diagnosis themselves despite it being quite obvious. It maybe worth doing this next bit before you see your GP, find out what Dr's at your local hospital deal with joint hypermobility / EDS they can usually be found in the Rheumatology Dept. You need a Rheumatologist that knows about EDS, otherwise you could still be left without a diagnosis. So once the GP understands that it is highly likely you have EDS you need to get a referral to a Rheumatologist. Expect reluctance (although hopefully you won't encounter it) on the GP's part as this costs the practice money..... as we all know the NHS budget is being squeezed. If you can afford it get a private referral, expect to pay anything from £150-£300. Its not cheap being sick, I should know! Again make sure you do your homework on who you are being referred to you don't want to spend all that money only to find out it was a complete waste of time.

The person that left the comment said they didn't know if it was worth being diagnosed. EDS is a genetic disorder there is no cure only treatment. Diagnosis is important, although I am going through a rough patch and I'm not really getting on with physio I don't want people to think why bother?

I couldn't get adequate pain relief until I had a diagnosis, I was fobbed off with paracetamol and diclofenic. That combination barely touched it and would leave me confined to bed due to the pain. I am extremely unlucky as my "version" of EDS has affected my spine - one of the most painful types of EDS. I am now on morphine slow release tablets, I don't revel in the fact I am on strong painkillers. I take the lowest dose I can 10mg in the morning 10mg at night. (This dose has now been increased to 20mg twice a day with oramorph to take with breakthrough pain. With my GP's consent I am allowed to increase my slow release morphine up to 40mg, but if I need to do it for 4 consecutive days I must contact him- 5th March 2014). I still have pain and there are days I take 20mg or even 30mg to numb the pain.

Also for 10 years I had constant nerve pain in my left thigh a problem I saw my old GP about on a regular basis. Since the diagnosis I have been put on a medication (which for reason I can't spell today) that has resolved that issue almost completely.My old GP did X- rays of my spine and hips but unfortunately with EDS a lot of the problems are in the soft tissue which doesn't show up on a X-ray. Having a diagnosis means the Dr's will now do the appropriate tests rather than rely solely on X-rays.

With EDS Hypermobility there is a 50% chance of an aortic aneurysm, plus there can be issues with the mitrial valves of the heart. Another good reason for a diagnosis, at present I am too sick to attend any cardiology appointments for scans but both my father and sister have had their hearts checked and are clear of any of these issues. Great news.

Another good reason to have a diagnosis, especially for the female of the species is that after menopause we lose bone density, in EDS we lose a lot more than regular folk. So its important that we receive a bone density scan before hitting the menopause and once after the menopause receive regular scans to ensure we aren't losing too much. With crappy collagen which is at the base of our problems we need to ensure our bones are not being put under undue stress by muscles, tendons and ligaments failing to do their jobs properly.

Also as people with EDS we have the risk of passing this genetic condition on to our children (not applicable to me!). There is a 50% chance that children with  an EDS parent will inherit the condition. By getting the diagnosis you will be helping your offspring so that if they do have the condition you will be able to assist them in protecting their own joints. This has been one of the reasons why I have fought hard for a diagnosis, I have a nephew that is soon to be 2 years old. I didn't want him to be in the same amount of pain as his mother and me.

EDS also increases the risk of periodontal disease so its important you have a dentist who is aware of your condition. My dentist X-rays my jaw yearly to ensure I'm not losing bone density which would mean I could start losing teeth. Dentists in particular need to be aware of the issue patients with EDS have concerning local anaesthetic in the fact it either doesn't work or we burn through it faster than "normal" people. In fact local anaesthetic anywhere on the body won't work as well, as I found out on several occasions before my diagnosis. When I complained of pain I got told by the Dr I couldn't possibly feel it as I was anaesthetised. So on that fact alone I do feel a diagnosis is necessary!

 Also if you are in employment a diagnosis means that in the UK the Equalities Act which replaced the disability discrimination act will apply to you. It means that your employer should make reasonable adjustments for you in your place of work. These could be anything from providing a more supportive chair, adjusting working hours or getting an occupational health advisor in to help you and your employer to work together to find solutions to problems.

Having a diagnosis won't get rid of the condition, its genetic and currently there is no cure. However having the diagnosis helps with so many aspects of your health and life it would be silly not to pursue it. Having a "rare" condition is never easy but there is help there it maybe that you have to push a little to get it. for a nap now!


Minx said...

Great post Rach!

Must have taken you ages to types all that lot up! It's perfect x Love and hugs Minxy xxx

Hilary Melton-Butcher said...

Hi Rachel .. you're doing what you can .. and by posting - people can at least see some of the challenges.

Good luck to both of you .. with thoughts Hilary

em said...

great piece rachel.

hope your ok, not posting for a couple of weeks, usually means a bad time, had a flare up a few weeks ago so know how it is.

take care. xxxx

The Myasthenia Kid said...

sorry guys its been a tough few weeks and that post really took it out of me.

Hope you are all ok xx

Clove said...

That is a great piece!! Well done!

Clove said...

Excellent, well done!


The Myasthenia Kid said...

Thank you x

skyescraper1982 said...

Thank you for your blog :-) My name is Skye and I am from Australia. Your blog gives me plenty of reasons to find out if I have EDS. The first time that I read about EDS was when my now soon to be 4yr old daughter was born back on the 21-05-2010. She has blue whites to her eyes so when no-one cared or could give me a reason for it I decided to look up reasons on the internet. EDS was one of the things I had discovered could be the cause. I went to the doctors with my huge list of possible reasons for her whites to be blue, got an referral to an pediatrician and he said it's more likely to be nothing at all that he has seen heaps of kids with their whites blue and haven't been dwarfs. I stupidly dismissed EDS as being possible due to her really short arms and legs, I had at the time briefly thought about it applying to myself but ignorantly ignored the fact as finding out why my babies eyes whites were blue was way more important at the time. The article I had read was in medical mumbo jumbo and I missed what alot of it was saying.
My birthday was on the 3-may and the next day I had a second one in less than 18months. Doctor can't find a reason or a cause...I start thinking about my bad back and how my almost 4yr old had kneed me in the back on the morning of my birthday and how my head had felt extremely strange but that I could amazingly walk quite well for a change. Could my back have caused some kind of nerve thing to cause what seemed like an stroke? I thought to myself. So I looked up back problems and strokes. It came up with EDS.
This time I first read about each part on Wikipedia and then cross referenced it all with government medical web sites.
Turns out you don't have to have long limbs (although i do) to have EDS. People with short limbs can have EDS too. Both my daughter and myself have sacral dimples and therefore could both have tethered spinal cords.

skyescraper1982 said...

Yet another thing I was told was nothing and not to worry about when my daughter was born that is also a sign of EDS. My daughter is in so much pain all the time and has many digestive issues and hernia too, as do I. When she grows she can't walk just as I couldn't when I was growing. The list for both of us is pages long and not only applies to the 2of us indicating EDS but also my mother, my almost 18yr old niece who lives with me and as I believed that EDS could only apply to long lumber people I ignorantly ignored when her GP had suggested that maybe my niece is one of the few lucky people that has extra flexibility due to as she spelt it Elars Dandos and that I should look up EDS as being the cause of her problems. I said I remember looking that up as a cause for my daughters blue whites to her eyes and that I thought it only effected people with long limbs (like I said in my ignorance) and the doctor said ah yes that's right, can't be that'd be lucky if it was though.
Lucky? A life sentence of pain and premature death yay... more and more on our lists and then I read an article about an woman in Tasmania who has EDS and 2daughters with EDS that also have spectrum disorders. So then I look up EDS and spectrum disorders and find that EDS IV the kind that causes strokes for no reason also has an link with Autism Spectrum Disorders and Aspergers Syndrome... I myself have spectrum disorder and so does my 12yr old son, my nieces who live with mes father also did (may he rip) as does his 2 daughters and brother and son and other niece must have had it too? So I go back through the list again...yep sounds like them too omg and my eldest brother's 2 sons, my nephews omg. So tonight for my whole families sake I started to make page long lists of all that applies to who and your blog has inspired me to push the doctors for answers.

skyescraper1982 said...

I already have an appointment to see an neurologist in July as an result of the stroke and he can get some of the test for some of the symptoms done and your blog suggests an rheumatoligist so I'll get onto that too, I have a re-feral for one of those somewhere. I think when I see my GP on Thursday week that I will ask for a re-feral to an genetisit too.
Thank you so much for your blog :-) and the inspiration I need to not take no for an answer.

skyescraper1982 said...

P.S. in one article I read it suggested that anyone with EDS should get an medical alert bracelet saying so and lots suggested that if you have children with EDS that the child's educators should be made aware of the condition and be given information on the child's EDS too. Thanks again :-)

The Myasthenia Kid said...

Hiya Skyscraper 1982,
Thank you so much for taking the time to leave your comments. I always love to hear from people who have read my blog and enjoyed a post or found it useful. I also like hearing about individuals stories as well because it validates how very hard it is to get taken seriously and get a diagnosis.
Hughes syndrome / sticky blood also can be found with dysautonomia and dysautonomia also runs with EDS so that could be a clue behind your stroke possibly but obviously I am not a doctor.
Your families EDS sounds more like Classical EDS as they have the blue whites of the eye. I do as well but I have type 3 with some cross over into 4. At least there is a genetic test for EDS Classical type. It does sound like there is cross over into hypermobility as EDS 3 tends to be the one that causes gastro issues.
Yes once you have a diagnosis for you and your family I would agree the kids teachers need to know as they could have issues with fatigue and contact sports.
Thanks again for commenting and please come back and let me know how you've got on.
Rach x

The Myasthenia Kid said...

Sorry I need to correct, I have crossover into classical EDS. Sorry my mistake.
Rach x

skyescraper1982 said...

I'm sorry that I didn't get to finish what I was writing yesterday, I only have my phone to do research on and write to you as well lol I find it quite time consuming researching and writing on my phone and so I got held up dealing with my kids, when duty calls and all of that lol :-) sorry again.
The rest of what I was going to say yesterday is that I haven't had a chance yet to research all the different types of EDS properly, I may cross over into other types of EDS like the classic type. I thank you very much for your input as I hadn't come across any information stating that you can have cross overs into other types of EDS so your latest blog was an real eye opener so i thank you very much.
Do you know if you can have more than one cross over?
I read something about base line symptoms in the majority of cases being the same, I haven't yet been able to locate a site that lists the base symptoms, but I am not going to give up on finding the information to help build my own and my families medical case.
I thank you so much for your time in responding to my msgs :-)

The Myasthenia Kid said...

Hiya Skye,
so lovely to hear from you again. I have included a few links in this post to try and make your research easier and hopefully point you in the right direction! this is a link to a printable sheet so you can take it with you to appointments. this link has a section at the bottom where you can look at each type of EDS. again this is a good website and hopefully it will help you.
The medical profession is divided on whether or not there is crossover between types of EDS. However the more open minded ones accept that you may have predominate signs of one type whilst having signs of another.
If there is anything I can do to help information wise. Please just contact me here or via my wordpress blog (same blog just different platform)

I will always be happy to help

Rach x

The Myasthenia Kid said...

Hi Skye,

going to do a post next Monday specifically for you, with proper links etc to help you.

It's 5am here in the UK so not firing on all cylinders just yet.


skyescraper1982 said...

No worries lol and thanks each :-)

skyescraper1982 said...

Sorry stupid phone lol it was ment to say and thanks heaps* not thanks each lol

The Myasthenia Kid said...

Lol Skye!

I've had some help from an EDS friend and she's provided me with a magnificent link! So I'm hoping it will help you lots! Its a proper medical journal article. I have printed it off to give my own consultant.

Rach xx