Ehlers Danlos Syndrome - is it worth getting diagnosed?

[Mumsknot]

Dd has always had hernias. She had an operation when she was 4 on an epigastric hernia and she’s had a series of hiatus hernias since then. She’s 25 and is double jointed on her wrists and elbows definitely (haven’t checked other joints).

She has recently discovered she has high blood pressure (a random health check at work) and she has terrible period pains.

Looking into it it could all be connected. Only reason I ask is I had mentioned this when she was younger and getting lots of hernias and I got by typical ‘you’re worrying about nothing’ response. I’m not a panicked mother by any means but dd called me last night and said she’s so fed up but her worry is that the GP dismisses her. Is it worth her exploring it? I’m concerned it’s impacting other things!

I think it is worth it. It’s recognised as a disability so if she ends up needing time off work for connected health issues, it gives her some protection.

You can look up the criteria and ask the gp for a referral to rheumatology, but they may refuse. You’ll have to take the criteria with you and show how she meets the aspects needed for diagnosis.

if she is having joint problems and the other issues associated with EDS (Dysautonomia, ibs, skin issues, joint issues etc) then go to the gp and get referrals for the support needed, the diagnosis doesn’t automatically get any support.

EDS is herditary. Map family memvers do you or father have symptoms?
Look at The HMSA | The Hypermobility Syndromes Association https://share.google/jT74GaY94bnqSunIh

Thanks all - I’m just concerned she has a series of issues that the doctor is dismissing particularly the high blood pressure which they can find no reason for.

I don’t usually go to appointments with her but I’ve volunteered to go to this one as I think she needs a bit of support

Usually with EDS issues are with swings in blood pressure or low blood pressure. It could be a different connective tissue disorder or something else entirely.

I have EDS and to be honest the NHS doesn't do anything in particular for it. The effects of it are all treated separately, there isn't a holistic way of handling it.

Thanks. I didn’t realise it was genetic. I am hyper mobile but dd is much worse than me. There is also a history of heart valve problems in the family though we don’t know if it’s genetic or whether it’s chance that more than one person had the issue. I am now the eldest surviving woman on my mum’s side (I’m 52). My mum died of cancer ages ago, her brother died of cancer and her sister died in her 30s from an aneurysm.

No one has ever looked at anything genetic so not sure what is or isn’t but I don’t want them to dismiss what might be connected as a series of unconnected issues.

Yes I agree it is hereditary. All 5 females in my family including my mum had/have it and we are all very bendy. There are links to neurodiversity, Sjogrens, endometriosis and other conditions I believe. My youngest dd got a double whammy as her dad is really bendy & prone to shoulder dislocations.

As @FurForksSakesaid, rheumatology referral and check out the Beighton sp (Beignton)? scale.

Has she checked herself against the beighton scale yet? I'm surprise she hasn't as you both have hypermobility. https://www.ehlers-danlos.com/assessing-joint-hypermobility/
If not already, I'd do the scoring, speak to GP and ask for a referral. There is another thread saying that generic hypermobility, GP won't do much, but other forms such as EDS, they might do referrals.

Here is the other recent post:
https://www.mumsnet.com/talk/general_health/5462608-just-been-diagnosed-hyper-mobile-what-next?reply=149308554

I would pursue a diagnosis , my niece has had many issues as she got older and it affected her pregnancy too , she has very painful periods and at least it will be on her medical file .

Given heart issues in family you need to ask for eds vascular type to be tested for and ruled out Source: National Institutes of Health (.gov) share.google/JwcX7DuVliNQMFrLP

Drug therapy for vascular EDS patients https://share.google/cZTFeVvHmcZbZGfo1

Take family tree and history to gp

I did not get diagnosed until I was 54

I think it is worth getting diagnosed as it can be important information for healthcare providers as it can mean a tendency to bleed or abnormal reactions to medications.

For example when I had dd1 I lost 6+ pints of blood because I suffered a lot of internal tearing but also because the medication to contract the uterus failed to work for the normal length of time.

Also I have had several situations where local anaesthesia has worn off very quickly - including once in the middle of facial surgery

Worth looking into it to find out if she definitely has EDS if not what is causing the issue. There are other conditions co related to EDS but can be stand alone. POTS for instance. It's worth looking more deeply into. Even if it's just to get the correct support online. Jeannie Di Bon is very good ... X

I got my diagnosis at the GP

It is not always hereditary- my son is diagnosed with classical EDS which has a genetic difference but it is a spontaneous difference as neither my DH or I gave it (we are having our DNA sequenced).

I am very hyper mobile I scored full points on that test, my knees dislocate if I move my legs wrong but I don’t feel as if I have eds
The dc have varying degrees of hyper mobility but one has been diagnosed with eds. We went to rheumatology for something else and they diagnosed her with eds and fibromyalgia.
She was on the waiting list for rheumatology but it was a very long wait so we paid private.

does she dislocate joints regularly? There’s nothing in your post that suggests EDS 🤷‍♀️ a lot of people are hypermobile especially in wrists and elbows and high bp also very common

I’m less concerned about the joints tbh but more concerned about the repeated hernias and whether it’s having an impact on her blood vessels etc - thanks for all the pointers, will ask the doctor.

My DSD has recently been diagnosed with hypemobile EDS. This is on top of her endometriosis, adenyosis, and FND. From what she has told me, many people with EDS also have these conditions and there is also a link to being ND

To get to this point has taken almost 5 years if not more, and at one point she was told it was all in her head.

I have EDS, Endometriosis and Adenomyosis which are conditions commonly found together.

It’s well documented that doctors often dismiss female patients’ pain and concerns and misdiagnose women’s health concerns. The actress Lily Reinhart (someone who your dd will know if you don’t) posted on her Instagram about this issue and she eventually found out she had endo and adeno. Women in the UK on average wait 8 years for those diagnoses and even a multi-millionaire actress didn’t get the diagnosis immediately.

Thanks - sorry to hear your stories. Depressing isn’t it! One day we may be taken seriously!

It is really because it can affect any part of the body. I've had patients who need naso-gastric tubes because the hypermobility affects their digestive system so badly, special shoes, physio, it can even affect the veins and arteries and cause strokes and heart attacks.
In my department (podiatry) they all need insoles because as soon as they stand up their feet and ankles collapse causing flat feet and knee and hip problems.
You can't do anything to cure it but you should be entitles to various NHS treatments and things like splints.
GPs never take it seriously I've had stand up rows with some of them over diagnoses and treatment. She needs to be on the list to see a rheumatologist who can advise and refer accordingly.
I ought to mention my various GPs poo poo'd my congenital hip dysplasia that was never diagnosed at birth for 40 years until the day I collapsed and was in a wheelchair for a year and a half having to have hip and knee replacements in my early 60's. The surgeon said it was the worst mess they had ever seen and why hadn't I been referred earlier?
Luckily my employer let me do admin from home or I would have lost my job and my house. Insist on it.

@Snorlaxo@adviceatthislatestage my youngest daughter has hEds, endometriosis, pots & is ND. Dd1; hEDS, ADHD, pots, fibroids and lupus. I have Sjogrens, fibromyalgia, small fibre neuropathy, hEDS & pots. It's a sort of cluster condition with comorbidities under the umbrella. DD1 has very weak ankles and often sprains or strains them. In hindsight I think my mum had endometriosis & some kind of undiagnosed autoimmune condition, she had an early hysterectomy.

Definitely a cluster of symptoms often involved . I’ve got EDS, POTS, endometriosis and ankylosing spondylitis

dd has EDS, POTS, endometriosis, coeliac disease autism and an undefined clotting disorder.

my dad had a rare autoimmune illness, wegners……it’s got another name now but can’t remember it.

my mum I am pretty sure looking back had EDS, also autistic. She using to have a collapsing oesophagus, loads of back problems (might have had ankylosing spondylitis to be honest), stretchy skin.

Agree about the foot problems with EDS, my podiatrist says I’ve got the flattest feet he’s ever seen. I have custom built orthotics and the lab rang him up thinking he’d put the wrong numbers down. And foot problems transfer up and cause knee problems, hip problems. It’s no wonder everything hurts.

dd got investigated quite thoroughly to make sure she didn’t have vascular EDS, I think maybe because of her clotting issues. They’ve never bother for me, just said it was hEDS, here’s a leaflet, off you trot.