Hypermobility/Ehlers Danlos Syndrome

[GoogleDoctor]

DD and I recently ended up at a podiatrist, who has assessed both of us as hypermobile (palms on the floor with knees straight, thumb back to wrist, etc). I've thought for years I was flat-footed, but was shown that I wasn't - it's my ankle joints being loose and slumping inwards that gives that impression.

The podiatrist then demonstrated how dodgy our hips, knees and ankles are, and how much the issue is affecting our postures. We're currently in the process of getting orthotics to try and correct some of the issues and reduce pain.

In the meantime, DD is also being assessed by the GP for very heavy periods. I suffered the same issue with short cycles and heavy blood loss, but with no obvious cause (fibroids, etc). I ended up having an endo ablation which didn't stop my periods, but has brought them back to manageable levels.

On one occasion I asked the GP whether there might be any connection between the two issues. And, because of the apparent genetic inheritance of the conditions, I wondered about possible Ehlers Danlos Syndrome (EDS).

However, I was cut off and bluntly told no. There are other things in my history that I thought might be related, but I didn't get chance to mention them. Honestly, I was a bit stung from being shot down so quickly and ushered on my way.

My joints pop and snap pretty much every time I move, and they're getting more painful as I get older. I've discussed with my DH and some of the pain I consider 'normal' apparently isn't normal at all. Doesn't everyone's feet and ankles hurt when they jump, and the hand and wrist hurt as they write?

I'm clumsy, I never seem to know where my body parts are so bash into door frames, door handles, tables and similar. I then bruise very easily - my thighs, calves and wrists are always colourful! I frequently get bruises that I have no idea where they came form.

I tend to be fatigued a lot, which gets dismissed as anaemia and/or being a working Mum. Constipation has always been normal for me, no matter how much fibre I eat or lactulose I drink. I heal slowly, but maybe I'm just getting old. (Late 30s.) My skin seems soft and youthful, but perhaps that's just luck or wishful thinking!

I give birth ridiculously quickly: both times it was under 4 hours from the first contraction. I went from being told I was only 2cm dilated to holding a baby in a matter of minutes. I've also been diagnosed with Reynaud's Syndrome.

However I don't seem to have dislocations. Certainly not the 'arm hanging out of its socket' type, but who knows what goes on in my joints when they go 'pop!' as I move. DD has also not had any dislocations, to my knowledge.

Does any of this sound like EDS, for those who know of the condition? Or does the lack of dislocations mean that is definitely not the issue?

Should I be pushing harder for a GP to look at the whole picture? Or is the doctor right to not even consider it and I'm just wasting their time? i.e. The issues are completely unrelated, I'm old, we're just a bit bendy, and I should step away from Dr. Google.

[beenrumbled]

Springspringhurrah thank you for asking - no further forward - GP still looking to investigate individual symptoms without looking at the bigger picture - exacerbated by no being able to get a face to face appointment!

Still pushing though - wish we could manage to go private. DHs work insurance wont cover at this stage though we are pushing it with hem too.

That's' good you got a diagnosis!

[Springspringhurrah]

Btw I read the manifesto/ goals document for the Hypermobility Society - it was all about educating more doctors, and then gaining validation for sufferers. Says it all really!
A lifetime of not being believed. So frustrating. I totally hear you @Thedishwasherstacker

For me diagnosis has had many benefits- a big one being my parents listening and being nicer to me ( I'm 40 🙄) I think all along they're just thought I'm a bit OTT and a whinge about being sore, being tired, bla bla, all a bit boring to listen to!

I've sent myself slightly crazy over last month or two reading every single thing I can about it- not necessarily the best strategy, tying myself up in knots about what to actually do now as to symptom management. However I also read that the tendency towards anxiety ( so unhelpful! Especially when dealing with dr's who assume you are just being anxious) is because more andrenaline than should be produced is in those with EDS.
I reckon probably my first thing needs to be stress management. Less stress = less fatigue= less pain , I hope anyway

[Springspringhurrah]

Skip that GP, trust your instincts.

EDS society very helpful

[Thedishwasherstacker]

This is so very interesting for me as I have been looking into this recently.
I have had issues for most of my life (now 48), I was born with hip dysplasia, very ‘double jointed’ as a child but would also get very painful part of my body. My part trick (and still is) is that I can bend both thumbs to my wrist. Around 9 I started ballet but had to give it up as it killed my feet, too much stretching would really hurt even though I was extra bendy.
When I was a teen, after a day walking about shopping I would be in agony in my pelvic and hip area, just from a Saturday shopping trip.
I have had gut issues for years and years but it’s always just put down to IBS although a gastroenterologist told me last week there is a definite connection with EDS and gut problems. I have also had years and years of gynae issues and dsis was recently diagnosed with endometriosis (not sure if this is connected?).
I am certain my mum and my grandad (her father) had some kind of hyper mobility problem, when standing their knees would curve back, mum was forever ‘wringing’ her ankles. She has the flattest feet ever and has awful problems as her feet have grown very deformed over the years, she has been in pain for as long as I have known (I am sure she suffers from fibromyalgia) but again she was always dismissed by doctors and just given strong painkillers (sadly she has Alzheimer’s now so I can’t discuss this with her).
I have very soft skin. When I sit it’s totally natural for me to sit with one leg completely curled around the other like a pretzel stick! Online I score 8 or 9 on the Beighton scale.
My ds (16) was also born with hip dysplasia. He regularly dislocates his knee since the age of 6. (Was told by a orthopaedic surgeon that it’s one of those things and he will grow out of it!). Dd (13) has to click every joint in her body from head to toe, every morning in order to feel ‘normal’! Is that normal?
Problem is that my GP doesn’t take me seriously, says a lot of the population are hypermobile and a bit bendy. But I have various health issues and I am becoming more convinced they are connected and maybe due to a connective tissue disorder? How do I get my GP to understand this?

[Springspringhurrah]

@Beenrumbled how did you get on?
Looking at it now your list above is very convincing, don't reckon you need a body map

[Springspringhurrah]

Hello again folks, in July I did get a diagnosis- from a Geneticist. Contact with rheumatologist was tricky with Covid, distance etc etc.
Contacted the local branch of eds society support group and they recommended the geneticist. He was great, totally understanding and v helpful. I now have a bunch of referrals pending to investigate further the different symptoms, bladder, pots etc.

New question- anyone got private health insurance? I called Bupa, bit it's on their excluded conditions list. No doubt because without a cure in sight it's likely to be expensive for them.. goddamn discriminatory I feel.
But moving on, any ideas anyone?

[beenrumbled]

Thank you for the link - I'll book mark it as I think we might be covered under DH's work health policy for that I had never considered it but he thinks it might be a possibility.

I'll have a look on the ED Assoc and see if there is something we can use - ideally looking for something that's fairly simple and obvious for them

[Springspringhurrah]

Ehlers danlos association has various lists of symptoms I think you could underline bits.

Now this bit depends on how much cash you have laying around..

My osteopath who has been urging me towards more diagnosis had another v similar client who did the research and found an expert. They recommended her, obviously this to you is now third / forth hand information!
I can't vouch for this person or the expert, yet anyway, but I've just registered for a private consultation on zoom (covid silver lining) and it was surprisingly quick and easy. And I see her in 2 weeks. Says it will cost £250-350 for first appointment. Right now I'm happy to pay that as just desperate for Answers , every one in different situation obviously.

www.thelondonclinic.co.uk/consultants/dr-gayatri-mittal

This doctor.

[beenrumbled]

I've been trying to find a printable body map of symptoms that we can highlight the ones she has and scan in to email to the GP - does anyone have one they have used or can signpost to?

she has dental issues - missing teeth and large gaps plus the bit between front teeth being too big. Plus the adult teeth she does have were incredibly slow to come in

Knees and hips keep popping

Knees can be painful

Poor circulation - blue hands and has had chilblains

heavy painful periods

Poor posture

Excessive femoral anteversions and flat feet - wears insoles

bowel issues since a child - constipation/sluggish bowels now nausea and bloated and gassy

Tiredness

bruises/marks easily - skin seems very soft

Has a diagnosis as a child of HMS - but not ED at that point

History of EDS and Lupus in family

[beenrumbled]

DD had a diagnosis of HMS as a child, but now at 17 we suspect she has EDS - the doctors wont talk to me now, and because they wont see her face to face its proving impossible to get further on in the process. The last time she raised concern that the bowel issues she was having might be connected to EDS they gave her Gaviscon.

She has contacted the GP again and has a phone appointment with the nurse practitioner again next week. I'm going to see if she gives her permission if i can speak to them as she really does not have the experience or confidence to deal with it.

[Justilou1]

Posted too soon. I am overly-familiar with orthopaedic surgeons. I have had my elbow, shoulder and wrists operated on and will have to have hip surgery eventually. My leg is wonky. I have what is charmingly known as a “Malignant Malalignment” and the same femur doesn’t sit in the hip socket properly either. No wonder I hated PE at school.

[Justilou1]

I’m (almost) 5ft1 and curvy. I have hEDS. The clicky, subluxy kind. I was diagnosed at 48. I faint like a heroine in a Victorian novel whose corset is too tight when the weather is hot. (Great because I live in a tropical area.) My skin is very soft, but not covered in stretchmarks. I think hEDS paid off for me when I carried twins and put on and lost a lot of weight. My skin’s fine. I have fewer wrinkles than women my age. I have dental deformities (missing fangs.) and my BP is on the low side. At my age that’s not a bad thing, I guess. It’s usually around 100/70.

[StillMedusa]

One of my DD is a tall thin woman with EDS.. the other is a small petite woman..with EDS.. who incidentally just had a long and very difficult labour with her first baby, ending with the baby on a ventilator in intensive care (he's making a good recovery thank God!) One has a heart condition the other doesn't..but has far worse dislocations. It varies so much :/

[claireb7rg]

@claireb7rg

I have heds too although I've struggled to get a diagnosis sInce the criteria changed. A rheumatologist told me once I couldn't possibly have eds as I was a tall slim woman with a heart condition 🙄

Born with dislocated hips, constant sprains and partial (subluxations) dislocations since

I also have pots and low bp in general - after surgery it plummets to scary levels (last one was 60/40 ish after a hip replacement - cue 4 nurses desparately trying to get me back on the bed

I bruise really easy and scar badly - suspect I have proprioception issues too (walk into door frames lots).

My Beighton score is 9

Wasn't a tall thin woman.... Damn typo

[claireb7rg]

I have heds too although I've struggled to get a diagnosis sInce the criteria changed. A rheumatologist told me once I couldn't possibly have eds as I was a tall slim woman with a heart condition 🙄

Born with dislocated hips, constant sprains and partial (subluxations) dislocations since

I also have pots and low bp in general - after surgery it plummets to scary levels (last one was 60/40 ish after a hip replacement - cue 4 nurses desparately trying to get me back on the bed

I bruise really easy and scar badly - suspect I have proprioception issues too (walk into door frames lots).

My Beighton score is 9

[RainbowMum11]

Yes, XH has EDS and was diagnosed years ago before anyone heard about it but his Gran was a nurse and wasn't put off by all the drs.
He sees a Rheumatologist and we consulted a genetic specialist before starting a family as he didn't want any children to suffer the pain and other issues that he has.

[Star8181]

@Springspringhurrah good luck with getting help for your daughter. I’ve realised the last few days that my son has what I have - he has hypermobility / dizziness etc so I guess we need a GP appointment too.
Interesting reading your last post - I have bowel problems, diagnosed coeliac, adenomyosis, endometriosis, joint pain, anxiety and I’m recovering from anorexia too.

[Springspringhurrah]

Maybe it doesn't matter as the medical treatment I believe is the same. Pain relief plus physio and see an OT for lifestyle modifications, pacing for fatigue etc. Q

I know what you mean about getting your head around it, I'm just about to sit down and write a sort of all encompassing medical history of myself and my daughter to back up speaking to go and asking for referral. I'm definitely procrastinating , feels like a really big deal. I want an answer, join up all the dots but also scared.

[Star8181]

Gosh this is so eye opening. I’ve just seen a rheumatologist last week who has diagnosed me with Joint Hypermobility Syndrome and CFS / ME. How do I know if it’s hEDS instead? How can you tell the difference?
I’ve been struggling with my health for 20 years so it’s hard to get my head round it all at the moment.

[Springspringhurrah]

Crikey this is all so gruesomely interesting. Now I'm thinking of my whole family through this lens.. it the fatigue and bladder / bowel issues with my daughter that are pushing me further into finding out.

All through my family on one side dreadful bunions , which is what prompted me to go to podiatrist to try to prevent, the surgery sounds awful. Lots of gynecology problems, esp my aunt who had v early hysterectomy after periods which disabled her completely. Now has dreadfully distorted fingers, plus she is currently off wheat as having digestive problems. My other aunt, anorexia in early life which is blamed for her current joint problems and chronic pain- has had all knees , hips and poss a shoulder joint replaced,she been looking for a spinal surgeon for spinal fusion. Her children all v anxious, tall, gyney issues Hmm the anorexia is probably not the only cause!
My mum and brother both have orthotics, also tend on anxious side of things .
Consistently young looking, complimented on our skin.
I think we all have it!

[Justilou1]

Hi @GoogleDoctor... I was diagnosed last year at 48 by my hand surgeon when I dislocated my thumb doing CPR on a dummy. My three kids have different manifestations of it too. There is no blood test for hEDS. Doctors are very reluctant to diagnose this version because it is frequently dismissed as “hysterical woman syndrome.” (Despite the frequent genuine medical symptoms.) You will need to build files with allied health professionals like Physios, podiatrists, etc to take to GP to support your case for GP to believe you. (So tedious.) I would push for referral to cardiologist for an echo to rule out valve problems as well. On the bright side, our skin seems to hold up to aging better than most people as long as we stay out of the sun. I look about ten years younger than my actual age. Gotta have ONE benefit, right?

[Shehasadiamondinthesky]

EDS can affect ANY connective tissue in the body, I've had patients with ruptured arteries in the brain, PEG feeding because their stomachs don't work and all sorts.
You really need to be referred to a rheumatologist, a GP won't be able to answer your questions.