Orthostatic Tremor anyone?

[MAT51]

I think this could be a family thing as my late dad had it too. But having suffered fine tremors for years -  this problem recently graduated during an extended flare up and the tremors wracked my body for a few months - prompting my rheumatologist to take me off Cellcept in case this was cause.

The flare has settled at last but I've been left with even more numbness everywhere and my balance is still bad. I find I can't stand still for long these days so use a fold out seat stick. Crossing roads is scary due to vertigo if I turn my head to look for traffic. I can't stand still either so either have to sit down or keep moving forward. Not very safe!

So I came here looking for answers, to see if this was just part of my Sjögren's SFN or other. I think it's other but could be wrong. My late dad didn't have Sjögren's or an autoimmune disease but he was type 2 diabetic. That said he had this same orthostatic tremor always and he did explain that his diabetes was hereditary - which fits more with a type that is neither 1 or 2. I have been investaged and don't have any type of diabetes at all thankfully. But I do have Sjögren's.

Anyhow, in absence of a caring neurologist, I'm contemplating asking my rheum to refer me to a geneticist for assessment for familial EDS and also for this rare type of tremor.

I feel that my mobility and balance take priority over the sicca symptoms and my skin issues and just would really like to know if anyone else here has a very fine, Parkinsonism, as part of their Sjögren's.

My B12 level is very high and I try hard to keep fit despite colossal fatigue - so am really not looking for any lifestyle or supplementary advice. This is just for anyone who struggles with weight bearing and proprioception issues - not apparently related to arthritis or never entrapment. I use a fisherman's fold out seat stick to help my balance and perch wherever necessary.  I have my first physiotherapist appointment tomorrow so am preparing for this and need to know what to prioritise.

[anita]

I have always wondered if I have EDS.  I have ALWAYS had significant joint hypermobility and my skin is paper thin and can be lifted up high off the surface.  I also have vascular issues, so concerned that it could be vascular EDS.

I considered asking Birnbaum at my last visit, but we got side-tracked with the profound GI issues (which ended up being the gallbladder) and new radial nerve damage from idiot vascular surgeon using pressure dressing for a blood clot in my arm and now have profound nerve pain, buzzing, and numbness from wrist through tip of thumb.  but I will ask him at next visit.

If you have hypermobility and skin flexibility, then by all means ask to be tested.

[MAT51]

Thanks Anita - but it's not as simple as asking to be tested for me. EDS is complicated by the fact that there are many types and all hereditary so you can only really be tested by a few specialists who are mostly based in London - too far and too expensive a detour for me. Sure one can be tested for general hypermobility but this isn't the same thing as EDS and I'm not sure if there would be any real benefit for me when I have so much going on that needs to be discussed and can be investigated locally and diagnosed by neurology, such as orthostatic tremors and autonomic dysfunction.

Not that much can be done for any of it really but at least it's acknowledged as a rare disease and I can explain to myself and others that this is why I need help with anything involving standing still now.

Knowing what is going on with our bodies is so important when they keep letting us down. So far small fibre neuropathy and fatigue of Sjögren's are presumed to be the reason for my standing up problem but I'm not sure it explains the full extent of them.

[anita]

I understand the many types.  I was thinking of genetic testing...as it is the only way to be properly diagnosed.  I thought that may be available if the doctors suspect the condition.

Treatment is like all other connective disease diseases...symptomatic.  But understanding the proper diagnosis can make treatment more effective.

As you know from the years we've communicated, I am PRO testing...because knowing what is going on with our body is SO important (to quote you).  I have always suggested proper testing for you...like repeating the skin biopsy (due to improper selection of only ONE site being done and you questioned the transit...and no morphology was done).  The skin biopsy is also designed for 'repeat' testing so they can gauge progression.  They can test for autonomic dysfunction with the skin biopsy as well.  There are also a variety of autonomic testings that can be done so you know exactly what is going on in that regard.  But I understand your restrictions in getting some of this testing.  I'm just stating this as I believe 100% in what you said about knowing what is going on with our bodies.  Just wish you had a way to get properly tested. 

[MAT51]

I couldn't agree more with you that, in an ideal health system, testing and knowing what we are dealing with is a very good thing. But in the real world most of us don't have John Hopkins and Birnbaum - we have relatively second rate facilities and care. That said, if I had cancer or Scleroderma or Vasculitis or Addison's or MS in my area I'd be extremely well provided for. It's just that what I have is a relatively unusual mix ie a neuro type of Sjögren's with very diffuse SFN, autonomic dysfunction, ataxia and probable hEDS with orthostatic tremors and probable MCAD. None of the facilities for testing these are available any longer in my hospital - despite it being a large university teaching hospital.

On the other hand I saw a physiotherapist on the NHS yesterday and have a really good NHS occupational therapist who referred me so I now have a bath rail, night resting splints a perching stool in my kitchen and have been offered a rollator to walk with - all free and all come with physio training and falls prevention in mind. So far I've been seen every four months by the rheum or vascular/ Scleroderma doctor and nothing they have said has been proved wrong. It's just that, if you don't have the supporting immunology for Sjögren's or the others then they can't do as much. Clinical trials and meds such as Rituximab are only licenced for RA here not for SS - even seropositive. So even Cellcept was a stab in the dark really. It's not that they don't take Sjögren's seriously it's just that there is a world wide lack of understanding and many with it apparently don't need the aggressive therapies other rheumatic diseases warrant. Indeed many of us are extra sensitive to these treatments.

If I look up Ataxia, ganglionopathy, Diabetes Insipidus, the rarer types of EDS or orthostatic tremors on google,  all are classed as rare. I'm thinking they probably aren't nearly as rare as suggested but the opportunity for testing is rarely there in most places. And this leaves sufferers in a sort of vicious circle because lack of routine testing means that the medical profession don't have these conditions remotely in their range of vision. They don't even have Sjögren's, which is supposedly a common autoimmune disease, in their line of vision let alone the less common secondaries!

[anita]

I understand...really I do.  Hence why I said what I did.

But they are capable of doing some testing...like skin biopsies.  But they didn't repeat this very good test (to biopsy more then one site) to get more definitive answers...like whether it is non-length SFN, or confirm autonomic dysfunction, or see actual damage to nerve fibers with morphology testing.   The data it could provide might open doors to more treatment options...or point them in a different direction for answers, if the test was negative.

Trust me, it isn't always easy in the US to get answers either...not everyone gets to see Birnbaum at Hopkins.  We have to push doctors to follow-up with testing.  I would be sitting at home with a feeding tube right now had I not insisted they do the gallbladder function test.  Seriously, I had to DEMAND it.  They had already given up further testing and ordered the feeding tube procedure to be done.  The dietitian called me to tell me how to use it.  That's when I said "cancel the feeding tube and order the function test...we are not putting a band-aid on this problem and stop looking for answers".   Patients have to advocate for them self....even here in US.  You are not alone with second rate care...most of us get the same.  Yes, I have a wonderful doctor (Birnbaum), but he can't fix everything and Hopkins is 3 hours each way, so not like I can run back forth for everything.  Thankfully, that function test showed my gallbladder was the problem and surgery confirmed (gallbladder was distended at over 12 cm long with chronic inflammation) and fixed it.  So standing up and demanding action saved me from a life with a feeding tube.

[MAT51]

But the intervention you describe with gallbladder is different because being offered a feeding tube is so invasive that it prompted your demand for another investigation first. My friend here had to do similar when she knew one of her kidneys had failed and they were about to surgery on her to fix it - it needed removimg and she proved it by using a spread sheet to measure her pee from working kidney and catheterised one producing nothing.

Whereas the only person who can order a skin biopsy for SFN is my neurologist and she is impossible to speak to. In fact I wrote her a formal letter of complaint about her "heightened health awareness" comment and still have had no response, despite copying my rheum and GP in 2 months ago now, all letters hand delivered by me. I haven't even had a next annual appointment date. My rheum has only seen me once, a year ago, and I see the vascular doctor (Scleroderma) in between. Not complaining as he's good but he doesn't examine me ever.

These people are totally inaccessible to me. Even to get the tremors notified I had to phone the rheum's secretary 3 times - and then received a letter from her saying to taper off Cellcept slowly and if I wanted her to phone me then leave a message again. I emailed her on nhs email in the end explaining my historic RA and querying essential hypertension as possible chronic kidney disease so we have a broader baseline to go beyond presumed SFN. She did phone me at last and was helpful but by this time I had an awful sticky cough which dominated the phone call!

Getting autonomic dysfunction confirmed is another hellishly impossible thing because my hospital has got rid of tilt table and other methods of testing as the neuro physio says it's a waste of time and money testing for PoTS or AD as no treatment. So I would have to send me elsewhere and, with NHS so strapped for funds they refuse. And I'm personally too strapped to pay for any testing at all. There is no insurance cover as this would be horrendously expensive to pay for I'm diagnosed with a rheumatic disease. And having health insurance isn't the norm here at all. I have to choose my battles with care. Getting skin biopsy done isn't going to add to my diagnostic certainty as I know I have it and it's writteh down in all clinical letters now. I would have liked to have it confirmed but this isn't a priority for me now. Getting orthostatic tremor diagnosed is because it's had such an impact on my mobility nave could be very useful to me in accessing financial help to make me more independent

One test that would be very easy would be for this orthostatic tremor as all the wretched neuro or other doctor would need to do is listen to my calves with a stethoscope while I'm standing. If OT then they would hear a clear windmill sound which would stop when I sit. In fact i can feel it now when I'm lying down and suddenly awake - fluttering round the length of both my legs. But again, it would take the awful neuro to run this test and she didn't listen to me at all when I tried to explain that I can't stand for longer than 30 seconds without needing to move or sit. This is OT without a shadow of doubt apparently but it's very rare (or rarely diagnosed). But it is very simple to test for I'm told by a woman who runs support group for the national tremor foundation.

I need another neuro but am aware that there will be politics then with her and colleague and that there is only one other now as there's a huge national shortage of neurologists. It's such a frustrating situation Anita and I've pushed and pushed believe me. It was easier getting tested for things in my old island home to be honest as they were used to being independent of the mainland at least. Here I feel like I'm bashing my head against a wall all the time. And when they do run tests it's basic and not done thoroughly enough.

A friend (down in England) has been badgering to get his synathen tested for insufficient cortisol (ie Addison's) for a year now. He finally had the test having been labelled with Fibro by his rheum and demanded to see an endo. The test was done and he has phoned and phoned for answers for 3 weeks now and was finally told by his GP that levels do show adrenal insufficiency and he will need an epi pen with cortisone and raise in dose in steroids. I mean??! Xx

[anita]

NO...the feeding tube is not different.  It wasn't that it was invasive, it was because they STOPPED looking for the answer and just wanted to put a band-aid on the problem.  I had called the GI office that week (before even being told about feeding tube) begging for them to continue testing...but they kept saying to wait for letter from doctor as he has concluded his work-up.  The ultrasound showed no gallstones, so they wrote off the gallbladder as the problem without doing the function test.   No one even called me about the feeding tube plan...I found out from dietitian calling to tell me how to use it.  I was like, "what feeding tube, who ordered it, when is this being done".  Seriously, I didn't even know until the Friday afternoon before the planned Monday morning procedure. This happens all the time in the US.  You are not the only one getting second class treatment.  You have to fight for yourself, stay on top of the doctors, as they won't fight for you in many cases.  Hopkins is the exception, and I'm sure there are other high class places in the US as well...(Mayo Clinic is horrible, though).

Doctors here are quick to blow off serious or rare conditions and often won't even test for them.  They are too busy to explore rare conditions.   I saw several endos and ALL blew me off for diabetes insipidus...too rare and always think my other conditions explain everything going on.  Took Birnbaum to intervene and argue (literally) with an endo to do test...and he was right, I had it.

[MAT51]

Well I think we have different obstacles to overcome in our very different health systems Anita. From what I have gathered over the years a lot depends on where you live in the US. There are conditions where people fare better in the U.K but a lot also depends on your postcode. People in or around London will generally fare better than those living in more far flung regions and maybe the same applies to which state of US you live in and your income bracket.

Anyway, having heard nothing back from my neurologist nearly 3 months since my letter of formal complaint re her "heightened health awareness" comment - I saw my lovely GP today and she is sufficiently annoyed for me and concerned about this neurologist's lack of professionalism and failure to investigate or confirm SFN, autonomic dysfunction or even listen to my problems with tremors and not being able to stand for long - that she was happy to refer me to the other neurologist. The only thing this awful neuro cares about is CNS involvement. I might have a completely different disease process occurring which wouldn't show up in EMG or nerve conduction and is unrelated to Sjögren's - such as Parkinson's. So many of my symptoms seem to correspond with PD but her mindset is only Sjögren's/ RA SFN and mild ataxia mild ganglionopathy - none of which she has confirmed or excluded through testing. X

I'm not sure I'll get an objective assessment from her colleague but my GP doubles up as a breast consultant in the same hospital so I'm just hoping she is genuinely on my side and knows what to say on my behalf. X

[anita]

There are good and bad doctors everywhere...all postcodes...luck is in the roll of the dice.  I really wish the US would go to a system like the UK.  I think the people here would benefit from it.  We could learn from the areas that you all struggle with, and try to find ways to fix those.  But the US needs better health care.  Believe it or not, we are at the BOTTOM of statistics for healthcare...across the globe!  Literally, the US is listed as one of the worst in healthcare, and I believe it.  We have some great doctors, but they are few, over worked, and the system they have to work with doesn't work.  You all have issues as well, but rate far better overall then the US...so does Canada, and their NHS.  I think a lot of it comes down to lack of enough doctors (especially specialists) to help the rising numbers of patients...hence the long wait times to get in, etc.

ALL countries can find improvement in their own healthcare...that I'm sure.  You, (like me) are in a rural area, where there is not many specialists.  That is why I have to drive 3 hours to Hopkins.  If I go to a more local hospital (1 hour away), I can be seen, but must wait and they really aren't the best doctors as they have in big cities.

I understand your neuro issues.  Can't you call?  Wish you could request another.  It might be worth while to go to London...especially if it would only be once or twice, at least to get answers and then maybe they would hook up with your local doctor for routine care.  Is this even possible?  How far is London from you?

[MAT51]

Hi there. No can't afford London - either tibgo there or see another doctor privately. It costs about £250/£300 - not sure how that translates but it's a lot. I have however discovered online that there are 7 neurologists rather than two in my hospital! I got the wrong idea because only two are women so I was asked "was this ..(her) or (her)?" by gastro and foolishly jumped to conclusions. Two of them look really  quite impressive on paper - and they should be because my hospital has a good reputation. Anyway I got turned down for disability (personal independence payments) yesterday on the grounds that I only had Sjögren's and the impact wasn't bad enough on my life. What life is that lol?!!  Is this the same life that leads a judge, disability officer and a GP to choose to be paid a lot to sit on a tribunal deciding whether someone is disabled enough to get a bit of money to improve their independence?

And ironically the strain of this awful humiliation by tribunal and coming off the cellcept has led to what seems to be an RA flare up overnight. Least ways I've been heading that way for days but last night I could barely get out of bed to go to toilet for the pain in my knees and feet. Maybe, by the time I see my rheum in nearly 4 weeks - I will be so bad with RAC disease activity score (DAS28) that I qualify for a big gun like Ritiximab?! Xx

[anita]

Sorry to hear about the disability denial.  A shame they didn't just look at the Sjogren's, but ALL the other complicating factors, like RA, dysautonomia, SFN...the list goes on and on.  Sjogren's alone doesn't 'look' that bad to someone that isn't dealing with it.  many on this forum will tell you about being 'told' they don't 'look' sick!

Is it possible to see one of these other neuros?  Go for it if you can.

I just had my IVIG infusion today (after being delayed one week, as I had fever and such last Friday) and as always they did blood work before they started.  Sadly, my blood count has dropped significantly.  Apparently the bleeding after surgery was much worse then originally thought and I'm quite anemic...very anemic, actually.  So much so that she's contacting doctor and says I should hear something no later than Monday (he wasn't in office today).  I have felt really run down...now I know why.  It's always something.

Hope you feel better soon and get into one of those other neuros!!

[MAT51]

Oh no about the severe anaemia Anita - hope you come through the other side of this soon. Anaemia is horrid - I had it badly before and after giving birth to my third son. Like you I'd had it for a while before a shocked midwife picked up on it!

Yes it's always something you're right.

I'm feeling very beligerent about my neuro symptoms just now. The skin on my knee is completely numb, my SFN affects my entire body and I can't stand up for longer than 20 seconds without either needing to sit or move. I used to be able to walk for miles but I'm increasingly slow and get episodes of vertigo out of the blue. I have all body tremors 24/7 with these crazy jerks in my left arm that led to wild hand shaking in the air last night when I woke up suddenly - like restless leg syndrome in one arm. And all these things have just crept up on me by stealth. I find myself scared that either I'm losing the plot or that I do in fact have Parkinson's or MS - definitely some kind of movement disorder. I just hope it's Sjögren's related as at least that's the devil I know! Xx

[anita]

I sure do hope you get into another neuro soon...one that will at least consider other conditions and LOOK for answers!  Being that there are other neuros at your hospital, maybe, just maybe, your GP will refer you to a different one.  Can you request?  Is private pay high for a neuro consult?  If they take you on after the private consult, can you see them again under the regular system (so it's not private pay each time afterward)?  Sorry, I don't know much on details of your NHS system and private pay.

Please keep us posted!

[MAT51]

Thanks Anita. In UK we do have a right to an NHS/ free second opinion so my GP was very happy to refer me to someone else. Particularly as I wrote a very comprehensive letter of complaint to the neurologist 3 months ago and have received no response at all - not even an acknowledgment! I copied my GP and my rheumatologist and the vascular doctor in so -  no one has mentioned it at all - they must all have read it.

When I told my GP I'd had no response to my letter and no further appointment given as promised - my GP looked pretty shocked and annoyed and said "sometimes these specialists just get fixed ideas about patients and a fresh look is needed - leave it to me!". She's wonderful!

So I will be seeing another neuro and just hope they don't stick by their colleague and genuinely take an interest in my case. I don't know how soon it will be though as I'm not due to be seen again until November. I guess my rheum, who I see in 3 weeks, might kick things into action though. None take private patients as the NHS clinics are overwhelmed and private in Scotland is seen as morally dubious and undermining the much loved principles of the NHS. It's different in England - particularly London. But I'd have to pay a lot to get existing copies of imaging and I know, from experience, the doctors here don't like it at all. That's why my Teutonic neuro has been extra facetious and written that I have "heightened health awareness" - due to my seeing the UK Sjögren's expert privately down in the south of England. She was particularly annoyed by the paragraph saying numbness in my face was probably Trigeminal Neuralgia. "This is my job not this lady's - she's a rheumatologist!! TN is diagnosed by me not her!!" Eyes flashing like a viper ready to strike!!

Someone on a burning mouth forum asked me if I'd ever had a skin biopsy to confirm SFN and I told her about the ones on my calves 3 years ago. She was amazed that I'd been diagnosed by neuro with SFN rather than something functional such as Fibromyalgia. I'm amazed too because many with SS do get told their pain is to do with increased/ heightened  sensitisation don't they? But I don't think they would then go numb everywhere as I am.

I now have a completely numb right knee cap, numb-ish hands - finger pads, lips and gums, face and eyes, feet and elbows. I can see the numb areas by shiny patches of discoloured skin - particularly my feet which go a great aray of colours when they are exposed to air or when I get into a warm/hot bath to try and warm my body up a bit. Apparently it's not a true secondary Raynaud's but is caused by SFN affecting the vascular system so the vascular doctor explained. So it's a mild secondary Raynaud's to a severe non length dependent SFN. So I do know I have it in distinct patches around my body but not at all sure any are suitable for skin biopsy as they sit either on my face or tendons and joints.

On my face I have small patches of telengecstasia which correspond with nerve pain and numbness exactly. Shades of Scleroderma I guess.

And then there are the tremors and twitches which they could easily say are functional - but orthostatic tremor can be tested easily by listening with a stethoscope on calves while I'm standing still. The doctor should hear a sound like blades of a windmill going round. It's not rocket science!  Xx