Normal process or am I being dismissed?

[PurpleRing]

Bit of a ramble incoming.

I'm 24 and have had symptoms such as generalised stiffness & aches, back & wrist/knee pain since I was about 8. I noticed in my teen years that my elbows and knees could hyperextend, but did not take major notice of this until I learned of Ehlers - Syndrome & hypermobility as a condition (as opposed to a "'fun' trick that some people can do"). I tried talking to my main GP about these symptoms even before I knew of EDS and such, but continuously got passed off as "normal" gynaecological stuff (also not correct, but that's another story) or me trying to get out of school.

Finally got an appointment with a very good Sister at that GP office, who was immediately receptive to me mentioning EDS and related conditions, especially when I explained my father had some medical history he wouldn't talk about, and my mother & her side of the family have many many (potentially genetic!) health issues which I'm not going to detail here because this post will be long enough as it is. I hadn't been specific with possible conditions when talking to other docs as I already did not trust them, but this Sister I knew I could trust with my life and she'd be more than happy to actually investigate my concerns. She agreed that my symptoms sounded like possible EDS, and immediately referred me to neurology as well as rheumatology, both for basic assessments, and did some other tests such as MRI, blood tests for liver/kidney/thyroid, and endoscopy for stomach/bowel function. This was April of 2019, well before anything could shake up waiting times. She warned me that rheumatology referrals were at 2 years due to a fair number of older folks in my area. From here on I'll refer to the Sister as "my GP", though she was technically only a nurse and not my registered GP.

MRI showed minor lower spinal damage (unhelpfully referred to as "age related"!), GP said this was good to document and started prescribing pregabalin. Neuro appointment came around, they diagnosed me with hypermobility after scoring 5 on the Beigton scale. Neuro said they were happy that no nerve damage was found in the first scan, but ordered a second MRI as my pain had gotten worse despite the pregabalin. Second MRI showed no further issues so neuro referred me to physio and discharged me. I dont remember the exact sequence of events but I did end up having 1 or 2 more MRIs around this time also. I was happy with this so far since it ruled out nerve issues.

Physio was a bit of a waste of time. I was told I was going to a supervised hypermobility specialist clinic at my local hospital, but ended up being given a sheet of paper with exercises that I had already been doing, and after doing some basic balance tests they told me to sit on a rowing machine for 30 minutes unsupervised. I went for 3 or 4 weeks before going back to my GP and saying it wasn't helpful. She referred me to a different physio unit, a more general one nearer to me. This was a disaster. The person I was meant to see wasn't in that day, so they had someone else fill in for him. The replacement was one of their more "holistic medicine" physios. He had the wrong paperwork at first and thought I was another patient, asked my why I "thought" I had hypermobility and then told me not to trust "the pharmacies" on "silly" diagnoses like that because I'm too young to be sick, told me to immediately stop taking my pain killers, stop using my walking stick, take 1500mg of vitamin D (without even looking at my latest bloods nor ordering more), offered me a massage, asked me if I'd be interested in buying their acupuncture sessions, and really, really wanted me to use a TENS machine. The whole experience left me a bit shaken as I was alone and was expecting to get physiotherapy, not whatever that was. (Note: I understand that alternative therapies are helpful for some, but that was not what I was there for, and especially not from someone trying to sell me something while ignoring my symptoms). I denied the massage and TENS machine, to which he said I should give it some thought and come back next week to try those. I said I would consider it, but really I knew I would not go back. I told my GP about this and she made a note since that was absolutely not what she sent me there for. She also had some basic rheumatology bloods sent off to check for rheumatic conditions, but these came back completely negative.

So then I was simply waiting. Waiting for my remaining referrals to tick on through. My GP by this point was very sure that it would be something along the lines of EDS, so she sent off another, different rheumatology referral, specifically asking for EDS assessment. This was some time around mid 2022.

Last week, I finally spoke to a rheumatologist. It wasn't clear if this was for the first (general) referral or the second (EDS-specific) referral, but I presumed the former. I mentioned that I had two referrals open, one for general rheum and one specifically for EDS (I'd hoped this would prompt him to inform me of which this was, but it didn't), and then he began assessing me. He agreed I was hypermobile (this time scoring 4 to 5), said he wants me to have another MRI to check for something rheumatic, and diagnosed me with fibromyalgia. Then he said "I don't think I can assess you under the new EDS guidelines, since they aren't finalised yet. It's a bit messy. I think under the old guidelines you might possibly have been considered for the old EDS Type 3 diagnosis, but that's the old guidelines." ... And that was it. He printed off some information about hypermobility and fibromyalgia and sent me on my way.

This is the reason for my post. What exactly do I do with this information? Was he diagnosing me with EDS under the old EDS Type 3/hypermobile type, or was he saying he wasn't going to diagnose me with it at all? I know that some doctors are hesitant to go with the new guidelines since they're technically not diagnostic guidelines yet, but he didn't specify if he was diagnosing me with the old EDS type 3 either. It's good to know he diagnosed me with fibro, at least that's something, but I feel a bit left in the dark with the specific EDS diagnosis or lack thereof. Is this a case of him waiting for the MRI results before making a solid diagnosis either way? Does he believe that it's not possible to have both fibro and EDS?

Has anyone here had a similar experience, or can give me more insight to what this might actually mean for me going forwards? My online medical records don't currently show any updates from that appointment, so I can't see what he's actually put onto my record just yet.

[jindakay]

I’m in the US so don’t know if it’s possible for you, but the best physician to ascertain if you have any type of EDS is a clinical geneticist. One rheumatologist diagnosed fibromyalgia due to widespread pain. Another ruled out any autoimmune disorder. The standard for nerve damage is a test called an Electromyogram (EMG) test. My neurologist used those results to diagnose peripheral neuropathy explaining burning pain in my legs. A painful shoulder joint lead me to an orthopedist who diagnosed frozen shoulder verified via MRI to rule out other tears, growths, etc., and sent me to a physical therapist experienced in hEDS. I’m glad I refused shoulder surgery as we don’t always heal well and have trouble with pain control. My guide is research on the internet. I google my symptom(s) “and hypermobile Ehlers Danlos syndrome”. Then I consider the results only using highly reputable medical sources. Good luck!

[cyberbarn]

I am so sorry you are having to go through this. On average men take three years to get a diagnoses of EDS, for women it is 10 years. The NHS needs to do better.

First of all, about the nosology. That is the medical term for the criteria that is used to define a condition or disease. The newest one is the 2017 one. The one he is talking about is from the 1990s. So he is right, the diagnostic criteria are a mess, but he is wrong that the 2017 one isn't use. They were finalised and published in 2017. They are looking at updating them soon, but they stand as they are right now.

However, it is worth remembering that the nosology was meant for research purposes. That means if you would taking part in research you would have to meet that exactly. If it is a clinical diagnosis which is what you want, then it doesn't have to be so strictly applied.

This is why they say 'likely' hypermobile EDS. Also, if you don't meet the whole criteria for hEDS then you would be diagnosed with hypermobile spectrum disorder (HSD).

So, now, who to diagnose. Sadly the British Society for Rheumatology has stated that they no longer deal with hypermobility. In some areas there are rheumatologists that will, but that is becoming less and less. They don't need to keep up with current information on EDS anymore.

What can we use? There is a GP toolkit that GPs can use to diagnose hEDS/HSD. And yes, your 'GP' should be able to use it too. I take it she is an advanced nurse practitioner? They are the best, and when I was involved in our Patient Participation Group at our surgery the patients told me they preferred the ANP, she was better than the GPs!

Here is the link to the toolkit. Read it and become familiar with it, send the link to your 'GP' and then go in and discuss it with her. gptoolkit.ehlers-danlos.org

A word about fibromyalgia. A lot of medics use it as a diagnosis of last resort. They don't know what is causing the patient's problems, so they hand the fibro diagnoses out. But there is a strict criteria for fibro, so make sure you actually fulfil that criteria. I had a rheumatogist diagnose me with fibro but I not only knew I didn't meet the criteria, I knew he didn't even bother to check me against any criteria, the old one or the new one. It resulted in a formal complaint against him!

You said that the pregabalin isn't working? That could be because you have the wrong kind of pain. Pregabalin works on amongst other things, centre neuropathic pain which is the kind of pain found in fibro. If it isn't working, that points to another cause of the pain. Just something to keep in mind.

As for physio, it really does need to be someone that really understands hypermobility because otherwise they can cause things to not just not get better, but to get worse. Even at the best of times they are realising that many physio beliefs are not based on good evidenced base science. I have had bad experiences with physio so I now refuse to see NHS physios. Do you live near a university with a medical school where they train physios? They often have clinics that are not very expensive and you might find something there that is helpful.

So, what helpful information do I have? The EDS Society and EDS UK are your friends. There are many videos on both sites from the EDS professionals. They talk about all aspects of EDS, the physios will talk about exercise, dieticians, occupational therapists, ENT, gastro, the list is endless, because collagen related conditions can affect any part of the body that has collagen in it (but remember there are over 20 different kinds of collagen so depending on which kind is affected and how will inform which part of the body that is affected).

I hope that helps. Get the Toolkit, go back to your wonderful 'GP', take what the rheumatologists with a pinch of salt. It sounds like you and your 'GP' are going to make a wonderful team!

[Blearyeyed]

Unfortunately, it is a very normal process for people with EDS to misdiagnosed or dismissed for a very long time.My experience was even when doctors , including Senior Rheumatology Consultants tested me depending on their knowledge of EDS they'd either diagnose me with Hypermobility or sit on the shelf about EDS. I was also diagnosed with Fibromyalgia and severe Generalized Hypermobility Spectrum Disorder before getting my EDS confirmed , only two years ago at the age of 50!

But don't panic , because my daughter's followed me into the GPS room and got provisionally diagnosed with Classic EDS on the same day at ages 20 and 23, and we have since had our diagnosis confirmed by NHS genetic screening after I'd learnt more about what to do from the EDS Society website.

First follow the link on cyberbarns reply to the GP tool kit.

Within that you will see a link to the Hypermobility EDS criteria . This is a form which they can use as a check list and tick off all the things relevant to you from a normal examination.

Print it off and request to do it at an appointment with any GP or Consultant.

It's worth printing off the info about EDS variants too just in case you have some if these criteria.

If you fulfill enough criteria they can diagnose you with Hypermobility EDS on the spot.

If you have additional EDS symptoms which might indicate other EDS types ( Classic or Classic like are the most likely options) they can diagnose EDS but then either choose to diagnose a different subtype without extra tests or send you for NHS genetics screening. If you are offered this and you have siblings , you can request for the Genetics service to do a family assessment for all parents and siblings together so everyone can get a diagnosis to help explain illnesses that occur within the family.

If you have less points than you require for Hypermobility EDS but do get a Beighton Test of 5 or more ( depending on your age ) you can still be diagnosed with Hypermobility Spectrum Disorder and make sure they add this to your record and that you mention it at any appointments you have for any illness , Both EDS and HSD can cause a higher chance of you having various other conditions.

So, you can get your GP to do the diagnosis by booking a double length appointment at the surgery or choose to take the print out of the Hypermobility EDS criteria checklist for the Rheumatologist to complete at your next appointment.

Just politely explain that you had learnt about the tool kit and examination list from contacting EDS UK society and thought it would be handy to complete it and help your diagnosis.

Your Rheumatologist was probably covering the bases at the time because they didn't realise that these criteria were available, and it's also important to rule out other things when checking for EDS too.

It is also possible to have both Fibromyalgia and EDS , or Fibro and HSD. In fact Fibro is quite commonly a risk for people with EDS for various reasons and they can be called comorbidities.

It's actually quite useful to be diagnosed with Fibro if you have it as well as EDS because it is eligible for benefits and disability assistance that EDS often , strangely, is not in the UK.

Physio is important for both conditions to strengthen muscles and bones and reduce injuries and pain , but as you've experienced it can be very hit and miss depending on the experience of the physio you see. You got a dodgy one first time but it is worth getting referred and asking the GP to include your need to see a Rheumatology Physiotherapist with EDS*HSD and Fibro treatment experience.

Usually with both EDS or HSD and Fibro you need to create a sort of partnership with your GP and use self care , diet , exercise and pacing hand in hand with medication or treatment when required .

One thing you do need to request us a referral to the Pain Management Clinic by the GP or Rheumie , and a request to go on the NHS Chronic Pain Management and Pacing Courses. The Pain Clinic takes a long time to get to but you get your pain and other symptoms properly assessed and they can recommend combined pain treatments to your GP and refer you to Occupational health for assessment for any aids that may also be helpful to you. Even if you do not get diagnosed with EDS or HSD , you can request a referral to these services for Fibromyalgia too because it is a recognised chronic pain condition that requires treatment and support .

Hope things are resolved for you soon . Please post again and let us know your progress, or with any questions or worries you have that you want to chat about with people whom understand what you are going through, as sharing can help. Take care , Bee