hEDS

Biblioklept

I hadn't heard of Ehlers-Danlos syndrome until I was on here but I wondered if anyone knows whether if you had it that it would be so obvious that it couldn't go undiagnosed? I've been seeing lots about the high rates of ASD and EDS as comorbidity and the more I read about EDS or particularly hEDS I'm starting to think I have it but not sure if that's just me overthinking stuff.

I've always had hypermobility in joints, was born with dislocated hips and been told I have issues with proprioception and many of the other symptoms but can it be possible to have and not know?? Or is it something that would have been noticed and diagnosed at a young age?

Jimm_Scope

My partner has EDS and my previous long-term partner also had EDS (we're all friends and they make jokes that I have a "type"). It's not always an easy one to diagnose. For my current partner it was actually a dermatologist she was seeing, for an entirely separate reason, had just done a workshop on EDS and noticed that her symptoms met the threshold.

She had no idea she had EDS until that diagnosis, but it really put all the separate puzzle pieces together afterwards.

I'll ask her about it and she what she says  

chiarieds

Hi @Biblioklept - as a person who has hEDS, I think it's perfectly possible to remain undiagnosed, or at least it was in my case! I don't remember going, but my Mum said she took me to the GP, who said I had 'growing pains.' Then when I was 14, I had a ski-ing accident & hurt my knee badly. After that, things were just put down to that accident, when I began to have problems with my back as well as my knee.

Then in surface anatomy classes, we had to learn how to measure each others joint movement, & it was always Miss T why is it always you that is different as my knees hyperextended & other things.

EDS wasn't even mentioned in our text books, & I remained undiagnosed when I saw a rheumatologist on several occasions with problems with my back, knees, wrist, & torn Achilles tendon.

Fast forward to when I had children, & noticed my eldest daughter's knees hyperextended, & she had problems with her wrist. I eventually started researching myself, & met the founder of EDS UK, who was convinced I had EDS due to the softness of my skin. She recommended the best specialist in the country, but my son & I had to wait 2 & a half years to see him (my eldest daughter having left home by then). We both got diagnosed with EDS, & later saw a rheumatologist that this specialist had recommended with my eldest daughter, who also got diagnosed. So I didn't 'officially' get diagnosed until I was 47.

As with many disorders, & depending on the severity, diagnosis may come with an infant or young child, but infants are hypermobile anyway so it's not always easy. Awareness of hEDS has been promoted for quite some time, as the average person waits years before a diagnosis is made. hEDS is also far more common than first recognised; they used to say it affected 1 in 20k, now it's 1 in 5k, or even less I suspect.

If you have a family history it makes life easier, as hEDS is a genetic disorder that will be passed down by a parent with 50% of pregnancies.

Biblioklept

Thank you both so much

@chiarieds it was you posting about hEDS that made me look up what it even was so I was hoping you'd reply! I don't want to sound weird but the more I read the more convinced I a have it. 
I was taken to the doctor many times with 'growing pains' and convinced myself until my late 20s that that's what all my pains still must be. I've had problems with my knees hyperextending, my hips, ankles, wrists and shoulders all my life. Plus bruising, gastro problems, even heart arrythmias!

Would you say there's any benefit to a diagnosis? Was there for you?

Jimm_Scope

I do not have EDS but in my experience with people close to me, having doctors know about EDS is certainly beneficial. Pregnancy concerns is a big one for example, there are more risks involved with EDS and pregnancy which medical professionals caring for the pregnant person should know about.

Surgery is another big one, because of how EDs affects the skin the surgeon should know about the EDS condition when it comes to surturing and more.

Again with surgery, people with EDS are likely to need more anaesthetic than someone who doesn't. As internal pain receptors in your nervous system are more sensitive, I believe.

chiarieds

For me, the importance of getting a diagnosis was more for my children (& later my grandchildren). I would think, again as with many other disorders, there's a benefit in getting a diagnosis, in knowing simply what you have, & validating any concerns. 

I also wanted to rule out Marfan Syndrome, as both my son & I have some positive signs of that. Again, just personally speaking, it took me 4 years to get an echocardiogram for my son (then it was questioned why I wasn't getting one....hmm, I'd just been fighting for my son!). We now both have one every year which wouldn't have been possible without a diagnosis, & is a precautionary measure.

It's taken a long time for the medical community to recognise that EDS is more than joint laxity & stretchy skin, &, as it's a connective tissue disorder (literally that which holds you together, & connective tissue is found throughout the body), it can affect many of the body's organs, such as the gastro problems you mention. This is a good resource that in part illustrates this (it's not particularly up to date tho): https://gptoolkit.ehlers-danlos.org/

I was far more concerned about my findings that I thought Chiari 1 Malformation (a neurological problem) was associated with hEDS. It took me 9 years to raise awareness of this in the UK, but it's still not mentioned much, whereas in the USA, where EDS being found in Chiari patients is now well known, if this is the case it's called Complex Chiari! Also in the USA, it's acknowledged that Mast Cell Activation Disorder can definitely be linked to EDS. As well as poor proprioception, I also have dysautonomia, which I put down to Chiari 1 Malformation (CM1), whereas our UK 'specialists' have other theories, & won't contemplate that, in some, it will be due to Chiari. This, perhaps in part, because a rheumatologist said emphatically that Chiari 1 Malformation would not be found in EDS when I first started mentioning this. I have definitely found out more about EDS from USA Chiari specialists (neurosurgeons, neurologists, geneticists, etc).

I think you know your own body the best; follow your instincts, & have a look at the link above to see what you think. If you have a family history, remember with hEDS, even in the same family, there will be 'variable expression;' there certainly is in mine!

Albus_Scope

I just looked at the diagnosis criteria and on a quick browse, I'm scoring at least a 6.  I may well finally listen to my ex and go speak to my GP about it.  

Jimm_Scope

I spoke to my partner and she had the following to say @Biblioklept

• It often goes undiagnosed and it's not surprising for someone to reach adult age undiagnosed
• Dislocated hips are really uncommon for most people (Jimm here: This is a common occurrence for both people I've known with EDS and I've never heard it happening to anyone else outside of a hip replacement)
• She was not diagnosed until 20 despite having a near textbook case, and even that was an opportunistic diagnosis by a doctor who had just done a workshop about it very recently
• Diagnosis gave her access to accommodations she would not have otherwise had at school, helped her better understand herself and take care of hersel

chiarieds

And I hope my daughter finally seeks a diagnosis for my youngest grandchild, who is the most hypermobile of us all. My daughter just rang to say she was on the way to her child's school (as the school had phoned her). The school has ordered an ambulance as they think my grandchild has a dislocated knee, & as they don't want to move them as they're in so much pain.

I've been urging my daughter to get my youngest grandchild diagnosed for the past 5 or 6 years; perhaps now she will!

chiarieds

3 paramedics later, gas & air, & ice, & they've manipulated the kneecap back into place, & on the way to hospital still to check it out. My daughter is now going to seek a diagnosis for my grandchild.

Jimm_Scope

That's good to hear @chiarieds. I've seen and heard the cracks and dislocations from past and present partners, it's definitely quite painful. My previous partner had dislocated their shoulder so many times they could do it at will and just pop it back in, still hurt them a touch but I guess either the joint just became so disconnected it stopped hurting or the nerves became dulled? Not sure.

Albus_Scope

Oh blimey @chiarieds, I'm glad your daughter is finally going to look into a diagnosis, but I hope the little one is ok! 

chiarieds

Thank you both @Jimm_Scope & @Albus_Scope - they've just got back home, & my grandchild has got a knee brace & elbow crutches & told not to weight bear until the fracture clinic ring my daughter within the next few days. My daughter tried to take a photo of the X-ray to send to me, but got told off! 

With the autosomal dominance of EDS getting transmitted in 50% of pregnancies, the odds certainly didn't work well with my family, as I've passed it on to each of my 3 children, & my daughter to her 3 children too.

With my son it's also his shoulders; my youngest grandchild has taken after me, & it's their knees. You do just get used to putting your joints back in place, but this time my youngest grandchild (a lanky 15 year old!) couldn't.

The specialist who diagnosed my son & I was also a dermatologist who'd specialised in connective tissue disorders such as EDS. We're 'mongrels' of sorts, as he said he couldn't rule out that my son had a fibrillin defect which is found in Marfan Syndrome. My youngest daughter had a spontaneous pneumothorax shortly after birth which can happen with the vascular type of EDS, & my son had prolonged bleeding following surgery for talipes equinovarus (which my middle grandchild also has). Then throw Chiari 1 Malformation, in my family's case, into the mix....