Hypermobility/Ehlers Danlos Syndrome

(73 Posts)
GoogleDoctor Fri 05-Mar-21 14:09:55

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? shock

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.

OP’s posts: |
dizzydizzydizzy Fri 05-Mar-21 18:40:41

My best friend has EDS and yes you do sound like her. The skin and clumsiness in particular strike a chord.

Her advice is always to stay as fit and active as possible. For example, She makes a point of strengthening her quads to keep her knees stable. She finds working out tiring, painful etc but she does what she can and I'm really proud of her for that.

TangerineGreen Fri 05-Mar-21 22:00:29

Ask for a referral to a rheumatologist, they usually have a lot more knowledge about diagnosing EDS. I would keep pushing, good luck OP.

StillMedusa Sat 06-Mar-21 21:11:40

Yes I would pursue this.
Both of my (now adult) daughters have EDS.. one was finally diagnosed at 20 the other 22. Both were ridiculously hypermobile from birth (I have two non hypermobile kids too) bruised horribly, pronated feet etc etc.
One of them had regular dislocations from babyhood but the other didnt until late teens... she also has horrific periods.
Bowel problems.. yes. Raynauds, yes. Both my girls also have POTS and the eldest has fainted just about everywhere you can think of... (she's a doctor herself so it can be quite embarrassing if she keels over on ward rounds!)

Eldest was diagnosed first, because of her fainting.. had a tilt table test, dx with POTS, then they checked her heart and she needed meds.. then noticed her hypermobility... etc etc and she was referred to an EDS specialist.
Younger one had multiple dislocations from babyhood but not so bad with the POTS but as she hit late teens the other stuff got worse and she was eventually diagnosed by a different EDS specialist. She is now 34 weeks pregnant and has to be under consultant care due to the risk of haemorage and fast labour.
I think it sounds like you should pursue it.. there ARE specialists out there and it is worth a google for your area and perhaps going privately as first port of call. Most GPs don't really know about it and are dismissive but they shouldn;t be sad My girls both struggle with pain daily,.

GoogleDoctor Mon 08-Mar-21 08:26:07

Thank you all, that gives me confidence to keep pushing. smile I'm seeing the podiatrist again this week. They are more approachable, and the appointment is 45 minutes long so should give me more time to speak.

I'll ask whether they've heard of EDS before and what their thoughts are. If they haven't, then maybe they can at least give me a letter or some information on DD and my hypermobility, and how many problems it's causing, so I can take that to the GP and request a referral to see a rheumatologist.

I'm not sure if we get POTS. Certainly DD and I have never fainted. Sometimes I feel a little bit dizzy when I stand, but that's normal? It passes after a moment or two and doesn't seem to slow me down.

My blood pressure tends to be on the low side, especially for someone a little overweight and not that fit, but it's not outside the normal bands. My blood pressure has only ever been taken when I'm sitting or lying down, never when standing.

OP’s posts: |
GrouchyKiwi Mon 08-Mar-21 20:03:42

This definitely sounds like HSD/EDS. And as for heavy periods: something like 84% of women with HSD/EDS have this.

I've found this book invaluable for helping me understand my condition, and advocate for myself at appointments with GPs and whatnot.

GrouchyKiwi Mon 08-Mar-21 20:06:41

Also: I was diagnosed aged 28. I've never dislocated any of my joints, but do get frequent subluxations of my shoulders after having children. I also had speedy deliveries (0-dilation to baby in 2 1/2 hours with my second; the midwives wanted to send me home when they examined me and I was so glad I refused!), have painful, heavy periods, Raynaud's, get depression and anxiety, exercise-induced asthma, and get dizzy a lot when standing (though Dr doesn't think it's POTS since blood pressure is always fine).

It's a hard road to diagnosis sometimes, but definitely push for a rheumatology referral for both you and your daughter. flowers

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PaperMonster Tue 09-Mar-21 19:43:13

May I just ask, is there any benefit to getting a diagnosis? Having chatted with the GP last year about the possibility of having EDS, she offered to refer me but I declined as I she said that the individual ailments would be treated and that’s already happening for me. So I just wondered whether I’d done the right thing or not!

Sooverthemill Tue 09-Mar-21 21:22:40

@PaperMonster it's worth it because it means an expert will be helping you manage it rather than your generalist GP. It tends to get worse and if you get pregnant it's worth having formal diagnosis.

@GoogleDoctor we are trying after years to get formal,diagnosis for my now 21 year old DD. She has endometriosis POTs and very very severe ME ( bedbound, can't walk, can't eat, can't always talk etc, masses of pain). We wonder if in fact she has EDS as her primary diagnosis

PaperMonster Wed 10-Mar-21 06:44:58

@Sooverthemill at the moment I see physios for the hyper mobility and associated joint pain and I have my digestive issues under control, I just didn’t know if there was anything else they could do.

GoogleDoctor Wed 10-Mar-21 08:47:06

@PaperMonster do you have any children who might have inherited the same condition? In my situation, the benefit of me getting a diagnosis means it's easier for DD to get a diagnosis - if it is shown that there is EDS in the family.

She's still young, and I don't want to worry her by dragging her to lots of appointments with doctors - especially if it turns out I'm wrong!

From my perspective my joints are already wrecked, I've learnt the hard way that anaesthetics are useless, I know of my circulation problems to mitigate them and I've already had all the children I'll ever have.

However DD is still young. Learning early means I can try to make sure her joints are protected, so they can serve her for as long as possible. And, if she ever needs anaesthesia, or has children of her own, hopefully a diagnosis will empower her to be taken seriously when she warns medical staff that things might not run as they'd expect.

OP’s posts: |
GoogleDoctor Wed 10-Mar-21 08:49:19

Did I mention that DD is still young? grin I should proof read more carefully!

OP’s posts: |
Eteri Wed 10-Mar-21 08:52:07

My husband and all but two of my children have it, and the best advice I can give is ballet, figure skating, martial arts or gymnastics for the clumsiness and joint health. Professionals in those sports are used to working with hypertension and will teach her how to control her joints and move well through the world.

Eteri Wed 10-Mar-21 08:53:32

*that shound read hyperextension, but I guess they can teach you a thing or two about hypertension too

UncleBunclesHouse Wed 10-Mar-21 09:01:01

Watching as I recognise a lot of what you describe in myself, am hypermobile and have never even heard of these conditions!

IdblowJonSnow Wed 10-Mar-21 09:06:56

A good friend of mine has EDS and yes, many of your symptoms sound the same. Her skin is amazing, she looks quite a lot younger than she is.

You need to see a specialist and maybe see a different GP if yours is so keen to fob you off.

NuclearDH Wed 10-Mar-21 09:18:29

Dd has EDS. Since she’s been diagnosed and I’ve read more I think I probably do as well but I’m not pursuing a diagnosis as I’m not as badly affected as Dd is.....saying that my joints are shit, always clunking and popping.

I frog marched Dd down the GP and said I’d done the beighton test at home and she had scored high.....I think 9. Said I’d like her referring to a rheumatologist. The recently qualified GP looked a bit dubious and half heartedly did some of the beighton test, he started with the thumb test which is the one she can’t do and looked at me with a wtf expression and then I think realised he couldn’t remember the other tests and gave up and referred her. Possibly helped by the fact he knows me as a ward sister when he was an SHO. 😂

Rheumatologist diagnosed her with EDS, POTs and fibro. I’m so glad she has the diagnosis now. It answers all the weird aches and pains, tiredness, heavy periods. She can get extensions at uni and we’re looking into a blue badge for her. The only joints she currently dislocates are her toes which pop out of place if she moves them!

She’s waiting cardiology tests as heart valve involvement can be a thing and she gets chest pain.

PaperMonster Wed 10-Mar-21 10:26:46

I do have a nine year old daughter. Many years ago I was diagnosed with scoliosis and advised that if I had a daughter (never understood why specifically a daughter) I should get her spine checked at round about age 11. She isn’t as bendy as me, doesn’t have the fatigue I’ve had since being a baby (I was the perfect baby - just slept all the time!!) or the digestive problems I’ve been dogged with all my life. So I’m pretty sure she’s OK.

Thanks for the replies btw! I had the conversation with my GP about a year ago just as the whole Covid business was kicking off, and I felt at that point it wasn’t worth pursuing a diagnosis because of what was happening and my main area of concern, ie my joint problems were being attended to.

Becca19962014 Wed 10-Mar-21 10:59:30

Do pursue a diagnosis.

It's regard to periods part of my diagnosis was around other health issues. I know the criteria has now changed but at that time issues with periods were part of the criteria for general EDS (I was diagnosed as hypermobility type but I've a lot of things that aren't just hypermobility going on).

My joints sublux and dislocate. I can easily put them back in, even without knowing. Happened in school and I was taken to hospital where I was told I'd "sort of dislocated" my elbow confused years later when looking at my notes they said the x-ray showed the manipulation of my joint had been successful (three obviously assumed someone and popped it back in when I went to a&e).

I've been told countless times it's impossible to do. But I've learnt that's for non EDSers not those of us with it and as I get older they're much much worse - happen more often and if not caught/treated are very hard to recover from due to difficulties with healing.

MedusasBadHairDay Wed 10-Mar-21 11:25:32

Does sound like HSD/EDS, I was also dismissed my doctors and eventually ending up taking a print out from the website of a hypermobility charity (HMSA) with all of the symptoms I experienced highlighted. I then got a referral to UCLH and a diagnosis.

I found having a diagnosis helpful for my mental health, though didn't really get any further practical help.

My brother also has symptoms but won't bother with a diagnosis, I think because he gets full dislocations rather than partial he already gets practical help.

PaperMonster Wed 10-Mar-21 12:37:07

@Becca19962014, what’s the issue with periods wrt EDS? My jaw always used to pop out until I had a (non related - but actually who knows??) operation on it. And my big toes pop out. But nothing else.

Sooverthemill Wed 10-Mar-21 13:09:11

@PaperMonster "A survey of women with EDS reported that only 32.8% of patients had a normal menstrual cycle. About 18% of patients had bleeding between periods. Nearly 33% of patients had a heavy menstrual flow. The vast majority of participants (92.5%) experienced painful cramps during menstruation. "

Becca19962014 Wed 10-Mar-21 13:11:35

@PaperMonster I can't remember exactly. It's to do with the way collegen effects periods. I was diagnosed in 2007 so quite a long time ago now. They asked about them being heavy and regular. I can't remember exactly now. My periods are now disabling. My EDS also effects my bowels and bladder control as well.

Sorry that probably doesn't help.

Sooverthemill Wed 10-Mar-21 13:12:25

My DD has probable EDS and endometriosis. Her periods are hell. 10 days of agony. Heavy heavy flow. Fainting, vomiting with the pain. Chest and hip and thigh pain ( additional to normal pain with her EDS , ME etc). When she has her period I cannot leave her alone. I often sleep next to her. I cannot leave the room much at all. She's been given the pill but now her EDS symptoms are much much worse. She's probably infertile anyway following escalated chemo for stage 4 cancer when she didn't have time to harvest her eggs. She'd like a hysterectomy but we are patiently waiting fir a rheumatologist consult.

SharpLily Wed 10-Mar-21 13:16:14

I agree that a diagnosis can be useful when it comes to pregnancy. I found it quite easy to live with EDS until my pregnancies, which were a disaster and I needed quite a lot of extra help so worth pursuing if just for that reason.

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