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If you have been diagnosed with Ehlers Danlos syndrome ....

65 replies

InDispairThisWeek · 30/08/2020 15:01

How did you get diagnosed and how do you cope with it.

We’re currently trying to get dd diagnosed but in current climates (CV-19) it is not easy.

She is hyper mobile and has constant pain in her shoulders, hip and knee, she was diagnosed with Chronic Fatigue syndrome 3 years ago and it still affects her a lot, she has stretch marks even though she has always been petite, she has a few atrophic scars and veins on her legs where the skin dips because it feels as if there is nothing under the skin (hard to explain), she has also been getting severe stomachs pains which has caused a few trips to A&E on the advice of 111.

We’ve been to the doctor who has referred her for a scan of her stomach and to a physiotherapist for her hyper mobility pain, but the doctor couldn’t diagnose EDS (I don’t think they knew much about it), so will the physiotherapist be able to diagnose it? We’re still waiting for both appointments.

How do you cope with the pain and fatigue, she’s just about to start A levels and I don’t know how she’s going to cope Sad

OP posts:
ToelessPobble · 30/08/2020 19:27

I pretty much do the same as everyone else with rucksacks instead of anything that can pull to one side. I accept that I have lower energy levels so I pace myself carefully. The thing that has made the most difference for me is seeing a chiropractor very regularly as I am hypermobile and have scoliosis. She ensures my spine is back in alignment and it has made a huge difference to my pain levels. I am currently trialling what will work for the IBS including diet and turmeric tablets.

HereWeStand · 31/08/2020 07:38

There’s been loads of great advice here so I’ll try not to duplicate but:

  • Exam time. Your DD May be able to get extra exam time if she has any difficulty writing or writing for extended periods because of the grip on the pen.
  • Strength training. A whole world of difference. Learning to do body weight exercise and small weights (not high impact cardio) at the gym support strength in the joints.
TheDrsDocMartens · 31/08/2020 08:27

I’d like genetic testing for it. If I’d known as a teen most of my damage wouldn’t have happened so I’d like the same for my dc.

Interested in this thread?

Then you might like threads about these subjects:

JacobReesMogadishu · 31/08/2020 08:32

Has she been tested for coeliac disease if she has bad stomach pains? Again it’s an auto immune disease so if she has EDS she’s more likely to have coeliac. I’d ask the GP for a blood test.

Dd has a rheumatologist appt next week for suspected EDS, I think she may have POTS as well. She already has coeliac disease.

Twilightstarbright · 31/08/2020 08:48

I'm another one with an autoimmune disease (RA) and heads. Also have POTS and dysautonomia.

I'd push for diagnosis as she can apply for extra support- I get extra time in exams, use of a laptop etc. My Rheumatologist diagnosed me and I had an appointment with a geneticist but there's no test for hEDS.

The right exercise really helps, and decent doctors. If she has any symptoms of POTS I'd highly recommend Dr Gall, NHS waitlist is huge but he can be seen privately and is worth any penny.

Twilightstarbright · 31/08/2020 08:48

Hit send too soon! Dr Gall is good at signposting to other doctors who understand EDS/HSD and the symptoms so can recommend a good gastroenterologist for example.

Ughmaybenot · 31/08/2020 09:07

After years of pain and general upset due to complete lack of understanding as to why I was like this (from both myself and my family/friends) my mum finally had enough and paid for me to see a private specialist in London. Dr Hakim.
I was diagnosed at 24 but we’d been pushing for an nhs doctor to diagnose since I was 15 or 16. When I was 17, I spent a year on crutches following an accident and it was another six or so months after that when they finally took me seriously enough to investigate that particular issue and give me the operation I needed. I was spectacularly let down really. I’ve had the dislocations, subluxations, heart problems, tiredness, easily damaged skin, eye problems, etc etc my whole life but I think because there’s no scientific ‘test’ Like a blood test for it, they just wrote it off. Well I know they wrote it off, one consultant actually said to me that I was just being a ‘typical lazy teenage girl’ and wanted to get out of going to school. At 18, I wanted to be out on my horse and out drinking and learning to drive (not at the same time 😂) but they left me to figure it out for myself. You just have to push and push and push for anything... or get your mum to for you! Your daughter will thank you in the long run.
My official diagnoses are hypermobile Ehlers Danlos syndrome, chronic fatigue syndrome and fibromyalgia (added by my gp later, unsure on this one tbh, lots of overlap in symptoms and it’s a bit of a end of the line, coverall diagnosis imo). They think I possibly have PoTS but again, slack in investigating this one!
I don’t know how much of a difference having a diagnosis has made in terms of my medical care because realistically there’s little they can do, and certainly very, very little that they have done, but in terms of my mental wellbeing, I was so glad to finally have answers and know that it wasn’t just in my head as I had been told over and over before. It’s truly awful doubting yourself and feeling like people are judging you as whiny or weak. And it explained a lot of weird things about me, like local anaesthetic not working etc.
The main thing that helps me is making sure I keep up with exercise. I am noticeably more in pain if I start to let myself have days off etc. I try to either swim or do Pilates every day, nothing overly strenuous, just enough to keep my core strength and muscle tone up, honestly I cannot stress enough how important that is. That and having the wisdom (now!) to accept that I simply cannot do that which others can... E.g. hen weekends have been a thorn in my side the past couple of years (I’m 26!) as it’s all go over a whole weekend. You have to have the good sense to accept that you have to take it easy after a busy day, and that you cannot do it all, even with the best of intentions.
Overall tho, it’s not necessarily all doom and gloom. I have a fantastic life, with a supportive husband, I work part time in an office environment as well as running two businesses from home (one big, one small) and I have a great group of good friends who know and understand me.

scottgirl · 31/08/2020 09:24

TheDrsDocMartens there are genetic tests for EDS but the most common type Hypermobile EDS is not able to be detected by a genetic blood test.

moosemama · 31/08/2020 09:32

My mum is diagnosed hEDS and my son was finally diagnosed last week, after being fobbed off for years. I have never bothered with an assessment for myself, but would almost definitely be diagnosed if I was. Other members of the family clearly have it, but remain undiagnosed. I have some complex issues, which almost definitely relate to it, but no-one in the UK/NHS ever manages to put together. Both my son and I also have dysautonomia/PoTS and he has gastro issues, as does my daughter - in her case Mast Cell related.

Have a read of the EDS GP Toolkit and direct your GP to it. A Rheumatology appointment is usually necessary for diagnosis, although the idea of the toolkit was for GPs to be able to diagnose - but they don’t. (Join the EDS Support UK and HMSA for up to date research and advice.)

Unfortunately not all Rheumatologists are created equal and there are a significant number who will tell you that hEDS does not exist. It is easier post 16, under adult care, as there is a massive problem in the UK with refusal to diagnose hEDS in paediatrics.

Re Physio, you need a high grade, EDS aware physio. Standard community physios are generally of little help and both my son and I have been bounced back to the GP by them, as they couldn’t help. If you get a Rheumatology referral, they usually have their own specialist Rheumy physios, who are much better.

A diagnosis will help with school/college/exam accommodations, although technically, you shouldn’t need a diagnosis, just support from a sympathetic medical professional and a decent SENCO.

Pain and fatigue are often the hardest to deal with. Learning to pace is vital. Also developing a personal toolkit for what works for pain. It will be different for everybody, but things like warmth (wheat bags, hot water bottles) ice packs (for injuries) relaxation, mindfulness and distraction are helpful. We find painkillers don’t work for us, so rarely use them. Putting together a ‘care box’ of things that help, that she can access whenever she needs them is handy. (Can be anything from the above list, plus things like cosy blankets, fluffy socks, favourite treats, films, box sets and books, hot chocolate sachets - anything you know makes her feel happier.) Rest is important, but it has to be balanced with movement, as maintaining muscle mass and strength around joints is really important. Deconditioning will make everything so much worse.

See if you can get her checked for B12 and Vit D deficiencies (lots of people with EDS have deficiencies in these and other things such as iron and folate) and make sure she is getting decent quality supplements for them (sublingual for B12). Also Magnesium, either in the form of bath soaks/salts or supplements will help with pain and sleep quality. We take chelated high quality magnesium supplements and it definitely helps.

Residentdove2020 · 31/08/2020 09:47

Fighting through this for myself. Lots of great signposting already.

I can recommend this book www.ehlers-danlos.com/understanding-heds-and-hsd-smith/

www.ehlers-danlos.com/heds-diagnostic-checklist/ Print & fill this checklist with her ahead of GP/consultants/physios etc.

And join the Facebook group EDS UK (Ehlers Danlos Syndrome).

Best of luck. Wish you were my Mum Grin

DaisyDreaming · 31/08/2020 09:56

Just a heads up that the Eds community can be a bit, I’m not even sure what the word is! I don’t mean most people with eds but those who dominate on Instagram and tiktok all present worst case and push for drastic treatments. A couple of months ago I had a question about nausea, I said I can eat ok and I’m drinking enough to be hydrated but can’t drink as much as I used to. Within 10 minutes it was suggested I get a feeding tube! It would be easy for your daughter to look up eds and think that’s her future.

I would ask your Gp to refer to Rheum. Some people are finding referrals quicker at the moment due to them doing online appointments

Ughmaybenot · 31/08/2020 10:16

In some ways I do agree with @DaisyDreaming . It can be a little bit like competitive misery at times, who has it worse. I’m on a couple of the Facebook groups, but you have to learn to sift through a little!

moosemama · 31/08/2020 10:27

@DaisyDreaming, I had a similar response in one group, to questions about ds not being able to eat as much as he used to.

I agree, you have to be really careful. The Rheumatologist that diagnosed ds was keen to talk to him about staying away from social media and not ending up feeling hopeless. He was very impressed when my ds told him he doesn’t do social media and that last thing he wants is for his issues to define him. Thankfully he’s a very laid back, glass-half-full lad, I think possibly helped by the fact we don’t panic and make a fuss, we tend to manage, monitor and seek help only when really needed.

It is a massive spectrum, some people are really badly affected, others not so much, but it should never become a competition. I don’t think it’s peculiar to EDS groups though. I’ve seen similar issues with general SEND and ASD related groups. The EDS UK FB groups are strictly moderated and I find those much more helpful.

InDispairThisWeek · 31/08/2020 10:33

Thank you everyone, I’m going to go through all the advice on here with dd (she know’s I’ve posted).

She already does pacing due to the CFS, we both walk a lot, we specifically go out every evening for a walk so she has some exercise each day but we will look into the other recommendations.

She rarely uses pain killers because they either don’t work or have limited success but we have a lot of ice packs that she uses and bio freeze. Most of what she does is from trial and error, the GP doesn’t believe that pain killers don’t work and just says to use them Sad

She had extra time at school in exams due to dyslexia and the CFS but I will also talk to the college

Thanks again to everyone for replying, it’s felt like we’ve just been battling through this alone so it’s good to hear other people’s stories (although it’s sad how many people suffer from this)

Thanks Ugh for showing that the future doesn’t have to be awful, from a parent’s point of view I worry constantly about her future, she wants to go to university and become a Primary School teacher, so hopefully this will be achievable.

OP posts:
PoxyPixie · 31/08/2020 10:46

Be aware that not all rheumatologists are great at diagnosing hEDS because they think it’s “just” hypermobility and then send you on your way. I was so sick of being fobbed off that I paid for a private diagnosis and, with that, I was finally able to get the other referrals that I needed for various other issues I had going on. If you can get a referral to one of the specialists (the EDS Society can point you in the right direction for them) then that might be a better idea.

Like HereWeStand I’ve found strength training to be the number one most helpful coping tool. Building up muscles helps to strengthen the joints so they’re less likely to dislocate/sublux. It’s also really helped me with proprioception, grip strength and over time has reduced my fatigue and my PoTS symptoms (which I think might be the primary cause of my fatigue more so than my hEDS).

The book that Residentdove posted a link to is so incredibly helpful. It has absolutely every bit of information that you might need in it. I really recommend getting it if you can.

I also agree with Daisy and I now stay well clear of EDS groups on social media unless I need a specific bit of advice. There are some lovely people in the groups but there’s also too much competitive sickness and what feels almost like people trying to make each other more sick? I don’t know how else to describe it, it’s strange. I’ve seen people posting questions about how to start exercising safely and loads of replies about how no type of exercise is safe for EDS or never to do anything other than laying down types of exercises and not to listen to doctors or physios that say differently. I found a lot of it to be really scary reading when I was first diagnosed and ended up putting off doing the things that actually made me better because of it.

CottonSock · 31/08/2020 11:01

I've read your thread and had a bit of a eureka moment. I think I have this. I'm heading out now so marking place.

TheDrsDocMartens · 31/08/2020 11:24

@scottgirl

TheDrsDocMartens there are genetic tests for EDS but the most common type Hypermobile EDS is not able to be detected by a genetic blood test.
I have what they classify as ‘Classical’ on here but I’ve had issues which could mean vascular but no one interested enough to look. Genes would show one way or the other
TheDrsDocMartens · 31/08/2020 11:32

Gone down a google wormhole now www.ouh.nhs.uk/services/referrals/genetics/documents/eds-referral-pathway.pdf

scottgirl · 31/08/2020 13:10

TheDrsDocMartens If you have been diagnosed with the Classical variety was this with a Genetic test? There are no genetic tests for Hypermobile Ehlers Danlos Syndrome.

StillMedusa · 31/08/2020 14:31

I have two (now adult) daughters, 26 and 28 with EDS.. neither diagnosed until their early 20s despite spending a lot of their childhood having joints dislocate constantly and being so hypermobile they were like jelly.

Eventual diagnosis came from a random source... DD1 had POTS formally diagnosed and the doctor put together her history of dislocations, joint pain gastric problems, and referred her to an EDS specialist.
Once she was diagnosed it was much easier for DD2 to actually get a referral to our local Rheumatologist and also then see a (different) EDS specialist (the girls live a long way from each other).who confirmed she also has EDS.

Day to day.. nice to have an answer, and both have specialist physio. Both are on meds.. one has heart issues with her both have gastric problems and POTS. They both need to pace themselves and get exhausted .. one's a doctor and one is a nurse, so they have full on lives. Days off are spent recuperating. DH hasn't been formally assessed but he has the same hypermobility, skin healing problems and POTS so we know who to blame!!!

Both girls 'get on with it' but their lives are harder because of it :(

TheDrsDocMartens · 31/08/2020 15:22

@scottgirl

TheDrsDocMartens If you have been diagnosed with the Classical variety was this with a Genetic test? There are no genetic tests for Hypermobile Ehlers Danlos Syndrome.
No that’s my point. I’ve not got that specific diagnosis but I’ve got all the markers. I’d like a clear diagnosis (if nothing else to know that my vascular issues aren’t EDS). But as it won’t change anything treatment wise it’s not going to happen.
MitziK · 31/08/2020 15:29

Stabilising the joints and posture is absolutely essential. It's one of my shopping list of diagnoses.

The best way I found to do that was a combination of weight training - using machines, not free weights or bodyweight exercises, as it's so important to stay within the normal range of motion, not the full range possible - swimming, Pilates and 100% attention upon ergonomics.

I have a saddle seat stool rather than an office chair and my monitor stacked up to eye level so I don't bend my head forward/down to see it. I have a shaped pillow so my neck doesn't slip out. I have custom insoles to stop my ankles rolling, my Achilles loosening, my hip, knee, pelvis or back going out.

And I move frequently - staying in one position for too long encourages the muscles to slacken.

Her finding cold helpful so early is good. Ice packs in the freezer at all times are brilliant, as they can be used for sprains, pops, headaches (god, the ones from a grumpy neck are agonising) and any other pain.

TW2013 · 31/08/2020 15:45

Climbing has really helped my dc, when well, obviously there is a risk of injury but it really helps to build up the muscles.

Dominicgoings · 31/08/2020 16:08

‘I’d like a clear diagnosis (if nothing else to know that my vascular issues aren’t EDS’

How old are you and what vascular issues do you have?

EinsteinaGogo · 31/08/2020 17:31

Hi OP,

I'm sorry you and your DD are going through the hideous time of trying to get a diagnosis.

My DD was diagnosed at 15.
If you can get to London, Dr Anand Saggar practices at the International Gene clinic and does private consultations.

https://www.doctify.com/uk/specialist/dranandd_saggar

There are various Facebook groups, and a UK Ehlers Danlos Society that can also help (a word of warning - a lot of the FB groups have US posters - they have a TERRIBLE time of getting diagnosis & help so might be best to avoid for fear of becoming very worried).

EDS comes with many other complications - my daughter has POTS, gastro issues, heart issues too, and of course the chronic pain and fatigue, so I'm very glad your DD has a mum who will fight to get her diagnosed and helped.