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 eyes…like 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 think 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 http://www.hypermobility.org/beighton.php  and http://www.hypermobility.org/beighton.php    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 some one 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 maybe 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, other wise 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 home work 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 pain killers. 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 off spring 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 peridontal 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.

Thanks……off for a nap now!

8 thoughts on “If you think you have Ehler Danlos Syndrome…

  1. 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


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