Dr sending me to geneticist

[Cheesus]

Hi folks,

My Dr reckons I could have EDS and is sending me to see a geneticist for evaluation. Apparently I have hypermobile joints. I can see it in my fingers and perhaps in my arms, but in the rest of my body I really don't think so.

I also don't have stretchy, fragile or translucent skin. My blood pressure on standing is fine (actually it is a little high). I don't experience any pain. My joints have always seemed fine and healthy. Wounds heal fine. Don't bruise badly (though I did as a child). No tongue hypermobility. Before ME I was really agile. Never had a dislocation despite numerous accidents (I used to engage in a lot of extreme sports). My gut is fine. Eyes are fine. No cysts.

Even with all this in mind, is EDS a possibility? I'm severely affected by ME, and I really don't want to hear that it is EDS causing this severe fatigue as that really puts a downer on hopes of recovery (or does it? I'm not well read on the subject).

 

[Sushi]

Hi folks,

My Dr reckons I could have EDS and is sending me to see a geneticist for evaluation. Apparently I have hypermobile joints. I can see it in my fingers and perhaps in my arms, but in the rest of my body I really don't think so.

I also don't have stretchy, fragile or translucent skin. My blood pressure on standing is fine (actually it is a little high). I don't experience any pain. My joints have always seemed fine and healthy. Wounds heal fine. Don't bruise badly (though I did as a child). No tongue hypermobility. Before ME I was really agile. Never had a dislocation despite numerous accidents (I used to engage in a lot of extreme sports). My gut is fine. Eyes are fine. No cysts.

Even with all this in mind, is EDS a possibility? I'm severely affected by ME, and I really don't want to hear that it is EDS causing this severe fatigue as that really puts a downer on hopes of recovery (or does it? I'm not well read on the subject).

EDS is a possibility (I also have it), but to me the question is what happens after the geneticist? Unless you have the vascular type EDS (those symptoms are more clear), there really isn't any treatment that I know of. It is interesting to know that you have EDS, but aside from making alterations to your life-style for preventative reasons (no more party/circus tricks! ), it isn't terribly helpful knowledge.

The treatments for ME and/or dysautonomia (which should help many of the symptoms that can arise from EDS), are the way I have chosen to go. Plus I get a regular "tune-up" from an osteopath as my joints, tendons, whatever, do tend to go out-of-line easily.

Sushi

 

[Cheesus]

Thanks a lot for your response, @Sushi . I really appreciate it.

I guess what I am concerned about is whether it could be causing this severe level of fatigue whereby I am primarily confined to my room. I saw on the NHS website they recommend bike riding for EDS sufferers, but a brief look at a forum I saw people complaining of really problematical fatigue. If it were the case that it was just causing my fingers to be bendier than average I really couldn't care less.

Interestingly I don't have any diagnosable autonomic condition (i.e. I don't have POTS or OI). Though I do see most of my ME symptoms as occurring due to sympathetic over-activity, as my immune symptoms have disappeared recently. I've also had some really high impact crashes in the past and have broken bones and so on, but never have I had an injury in my joints that was disproportionate to the cause.

 

[Sushi]

Thanks a lot for your response, @Sushi . I really appreciate it.

I guess what I am concerned about is whether it could be causing this severe level of fatigue whereby I am primarily confined to my room. I saw on the NHS website they recommend bike riding for EDS sufferers, but a brief look at a forum I saw people complaining of really problematical fatigue. If it were the case that it was just causing my fingers to be bendier than average I really couldn't care less.

Interestingly I don't have any diagnosable autonomic condition (i.e. I don't have POTS or OI). Though I do see most of my ME symptoms as occurring due to sympathetic over-activity, as my immune symptoms have disappeared recently. I've also had some really high impact crashes in the past and have broken bones and so on, but never have I had an injury in my joints that was disproportionate to the cause.

So it sounds like you are in a "gray area" for an EDS diagnosis. What I decided it that, even though I know I have EDS, there isn't much to do about it or any way to track exactly where my symptoms are coming from.

But, by treating ME, there is much improvement in the "cross-over" areas between EDS and ME symptoms. So while, for me, EDS may be a contributing factor to my symptoms, they only became acute when I entered the stage where a classical diagnosis of ME fit (the ICC and CCC)). So I am treating ME and just being cautious about the life-style risks of EDS.

Sushi

 

[Cheesus]

So it sounds like you are in a "gray area" for an EDS diagnosis. What I decided it that, even though I know I have EDS, there isn't much to do about it or any way to track exactly where my symptoms are coming from.

But, by treating ME, there is much improvement in the "cross-over" areas between EDS and ME symptoms. So while, for me, EDS may be a contributing factor to my symptoms, they only became acute when I entered the stage where a classical diagnosis of ME fit (the ICC and CCC)). So I am treating ME and just being cautious about the life-style risks of EDS.

Sushi

I think that is a good way of seeing it. At this stage I may not even have it. That lack of anything but bendy fingers would make me extremely sceptical that it is causing me such severe fatigue. You've helped me sort this out in my head, thanks!

I am curious, do you still fit a classical diagnosis of ME? I have just today discovered that I do not, and my consultant immunologist is now saying I have a 'CFS type illness'. This has come about due to my tonsils deflating and noise/light sensitivity disappearing.

 

[Sushi]

@Cheesus I fit the picture for a "recovering ME patient." Through specific treatment, some of my symptoms are gone, and many are better, but the beast is still playing with me.

Sushi

 

[VeganMonkey]

It is possible, I'm the 3rd generation in my family with EDS and we all are different. We don't all have all of the symptoms. And it manifested differently in each of us. That's what made it so hard to get diagnosed, because it didn't even look like it was the same illness in the 3 of us.

I am glad I do have the diagnosis, because now I can make sure I prevent more injuries and I know why I am so ill. It's not true that there is no treatment, depending of what your issues are there are different treatments, for example occupational therapy, hydrotherapy, bracing, finger splits, just to name a few. If you have POTS/OI (which is common in EDS) there are medications and compression garments.

ETA: yes it is possible to experience extreme fatigue with EDS, I asked my geneticist about that, I am mostly house bound but she said it can vary from completely bed bound to not tired at all (but then they might have other issues) In my family we have a range like that too.

 

[IreneF]

Off the wall question: Is carpal tunnel syndrome/RSI/neuropathy a symptom of EDS?

 

[VeganMonkey]

Neuropathy is, not sure about RSI, I think non-EDS people can get it too. But it's common in EDS

 

[SickOfSickness]

Are you male? Symptoms are more common for females.

For more symptoms you can see http://forum.notcrazy.net/index.php?topic=9571.0

 

[NK17]

Off the wall question: Is carpal tunnel syndrome/RSI/neuropathy a symptom of EDS?

Strange that you ask about CTS @IreneF.
I don't know if this can help, but I had a bad case of it during pregnancy, which was treated with cortisone in loco injections and which rang a bell for a possible autoimmune disease diagnosis.

I have also read that Fluge and Mella and many topnotch doctors consider CTS a very first sign of autoimmunity.

On top of ME I also have a family history of EDS and have many manifestations of it myself, such as: chronic pain, easy bruising, all over joints hypermobility in early childhood that then became minimal and largely present in elbows, overall stiffness, extreme easy bruising, habitus marfanicus, absent tongue frenulum, just to name a few.

 

[NK17]

@Cheesus overlap between EDS and ME is finally starting to be noticed.
CFS should be considered one of the symptoms of hereditary connective tissue diseases such as EDS.
And EDS can surely make you chronically tired, you just have to go on EDS online forums and read what patients write about their fatigue.
If you are in the UK and close to London, Dr. Rodney Grahame @UCL is the rheumatologist that knows the most about EDS.
Both ME and EDS are daunting chronic diseases and I don't know which one is to be preferred. IMO they're equally awful.
There is still a lot to learn about both illnesses. Recently we're starting to uncover the role or centrality of the immune system in both of them.
Unfortunately not all geneticist are created equal and very few of them have the expertise and highly trained clinical eye and are capable of seeing the big picture as well as the many shades of grey.
EDS is still very much under-diagnosed.

 

[wastwater]

Ive been looking into this a bit the gene I was looking at COL4A1 can effect many tissues:/smooth muscle/small intestine/colon/adipocyte/lung/uterus and placenta. COL4A1 collagen of basement membrane.Its easy to see how you could have a leaky gut from this if the basement membrane isnt correctly formed.
I was wondering could a common virus like EBV do a hit and run injury to the tissue and make it more leaky or could it intergrate into the tissue and sit there smoldering?

 

[IreneF]

Strange that you ask about CTS @IreneF.
I don't know if this can help, but I had a bad case of it during pregnancy, which was treated with cortisone in loco injections and which rang a bell for a possible autoimmune disease diagnosis.

I have also read that Fluge and Mella and many topnotch doctors consider CTS a very first sign of autoimmunity.

On top of ME I also have a family history of EDS and have many manifestations of it myself, such as: chronic pain, easy bruising, all over joints hypermobility in early childhood that then became minimal and largely present in elbows, overall stiffness, extreme easy bruising, habitus marfanicus, absent tongue frenulum, just to name a few.

I first got CTS in college, when I had a summer job in a cannery that involved a lot of wrist motion. I did not get it while I was pregnant. It flared when I was in grad school and typing lots of papers, and lately it's gotten bad enough that I've stopped knitting and playing games on my phone. I type with my thumb.

Otherwise no symptoms except bruising, but that seems to go with having pale skin.

 

[Cheesus]

Are you male? Symptoms are more common for females.

For more symptoms you can see http://forum.notcrazy.net/index.php?topic=9571.0

I am male, yes.

If I have EDS the condition is extremely mild. My sister has joint hypermobility so I can't rule it out, but I think with such mild symptoms it really isn't going to present me with much of an issue. If my ME disappeared I have a feeling I'd be straight back on my mountain bike.

 

[Cheesus]

If I have it, I would have had it my entire life wouldn't I?

 

[Cheesus]

This has been quite a helpful article:

http://hypermobility.org/help-advice/hypermobility-syndromes/jhseds-hm-clinicians-guide/

One thing that is of particular interest to me is that 20-30% of the population experience some degree of hypermobility, with it become less pronounced as someone ages. I definitely fit this bill. My little fingers used to bend back almost 180 degrees, now they just go 90.

I don't have any of the other symptoms on that list except a history of anxiety and fatigue, but that isn't very specific. I've shown my parents that other symptoms list and they don't really resonate with it for them either, other than my dad has IBS and allergies - again, very general symptoms.

If you hadn't guessed, I am really hoping that I do not have EDS! I have been referred to a local rheumatologist that my GP seems to think quite highly of. I am in the UK but alas I am nowhere near London.

Wish me luck!

p.s. Though I wouldn't mind looking young my entire life

 

[SickOfSickness]

If I have it, I would have had it my entire life wouldn't I?

It's genetic yes, but most with EDS have a trigger or symptoms start at puberty.

 

[VeganMonkey]

Some people with EDS only experience the CFS side, for several years that was my main problem, the pain is on and off, it can stay away (I would still have a tiny bit but I'm so used to it it doesn't register for me) for years and come back and stay for years. That's why I thought I couldn't have EDS, I thought you had to have dislocations all the time, but some people with EDS are even stiff and never have that. I didn't know that certain pains I have are partial dislocations, I just thought that was some weird CFS symptom.

 

[Cheesus]

Some people with EDS only experience the CFS side, for several years that was my main problem, the pain is on and off, it can stay away (I would still have a tiny bit but I'm so used to it it doesn't register for me) for years and come back and stay for years. That's why I thought I couldn't have EDS, I thought you had to have dislocations all the time, but some people with EDS are even stiff and never have that. I didn't know that certain pains I have are partial dislocations, I just thought that was some weird CFS symptom.

... So how do you know you have EDS?