How do you confirm a diagnosis : Hi guys as a lot... - LUPUS UK

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How do you confirm a diagnosis

Buckley123 profile image

Hi guys as a lot of you know my bloods are all negative but I do have some organ involvement (brain) and lymph nodes go up and down like a yo-yo.

My question is how will I ever get a real diagnosis? With no blood work ?

Surely with inflamed lymph nodes in my scan is a sign of inflammation yet all my markers are negative even in the brain apparently the white lesions are inflamed then they turn to scarring I have many of those but no bloods.

How can you tell if your aps negative or lupus negative I generally believe it a mixture of aps as Doctor kaul suggested and lupus as my neuro was so certain before my negative bloods and as doctor Cruz told me my neurologist is hardly ever wrong.

I’m sure my emg nerve test was negative yet my muscles move around a lot twitching all the time

my lumber puncture was also negative

I have another brain scan in a few days so will be interesting to see if I have anymore new lesions, if I do I’m in trouble because nothing else is backing me up and I I know from my mum that the scarring can not be undone xx

50 Replies

Hi there.

I think you might be struggling so much to get a diagnosis because whatever is happening hasn’t yet shown itself fully. The doctors you are seeing are probably concerned that you may be subconsciously worrying about inheriting your mum’s MS or similarly progressive autoimmunity and yet so far nothing to suggest this has shown up.

I’m always very resistant to the idea of functional or psychosomatic diagnosis because I think it becomes much more difficult to be taken seriously. So I’d be concerned that, if you continue to pursue a diagnosis despite seeing experts such as Dr Kaul, you might well be told you have functional neurological disorder (FND) to blame for all or many of your symptoms.

If even Dr Kaul suspects autoimmunity but is not prepared to fully commit yet - I actually don’t think there is a lot more you can do apart from getting your brain regularly monitored.

They maybe privately assume that it’s part of the grieving process and just be taking a wait and see approach to the signs you do have. I think in your situation i would feel this to be a relief because at least they aren’t telling you it’s all in your head as many do get told. What you need is to be taken seriously and to continue to be monitored. This is the main thing.

Otherwise, if you also suffer from small fibre neuropathy and dryness of eyes and mouth and tummy problems then I would say that you could just as easily have seronegative Sjögren’s to explain your twitches as I do. As far as I’m aware it is seronegative in 25-30% of cases and can present as small fibre neuropathy before it causes sicca syndrome. I was told it’s the greatest MS imitator and also caused small vessel disease of brain.

Your doctors may not be thinking of Sjögren’s because you aren’t talking about dry eyes or mouth. But nor does Venus Williams!

I’d say, particularly with the lymph gland swelling, it’s still worth asking about this. The seronegative presentation of SS is most often the neurological one and can only be diagnosed by lip biopsy. The only treatment usually offered is Hydroxichloraquine.

I guess you need to decide whether to pursue a diagnosis of Sjögren’s, APS or Lupus despite negative blood work and inconclusive imaging. Or just try to fill your life with as happy things as possible in the present? If your symptoms progress despite attempts at distraction, healthy living etc or if new symptoms reveal themselves then you could go back to your GP and request bloods redone, biopsies taken etc?

As you know I do have definitive diagnosis seronegative Sjögren’s and am sure I’ve had it since I was a kid - plus diagnosed hypothyroidism. Yet I’m not on any treatments now having failed to tolerate them.

Yes I’m often unwell - but I’m 56 and I still work as a self employed artist and enjoy my three young adult sons and manage a lot of my symptoms myself using common sense and topical meds.

The lesions on my brain fortunately haven’t progressed so far and were in the wrong area to be MS anyway. I did have matched o’ bands show up in lumbar puncture which confirmed a systemic process was occurring ie Sjögren’s. And my lip biopsy was very highly positive. But I’m older then you and these diagnostic tests may well not have shown positive at your age.

I hate it that my neurologists have decided to push functional for my twitches and tremor because I do wish to be monitored and believed having lost both my parents to vascular dementia and sudden cardiac related deaths - as did all of my grandparents.

Your doctors maybe privately assume that many of your symptoms are part of the grieving process and just be taking a wait and see approach to the signs you do have. I think in your situation I would feel that to be a relief but we are all different.

I know that having a name to blame is helpful - it has calmed me down a lot. But as there are no targeted treatments and research and medical ignorance still surround Sjögren’s more then other autoimmune diseases - I choose to raise awareness where possible but otherwise try to focus on lifestyle improvements, work, family and enjoy the happy times.

So I think, if your latest brain scan shows no sign of progression and your EMG was normal then you can afford to cut yourself some slack and feel confident that you are at least very unlikely to be affected by anything as awful as your mum had to endure - for the time being this is what matters?

Buckley123 profile image
Buckley123 in reply to

Thanks twitchy I know your right and of course it’s what’s important tbh I think it’s effected me a lot watching my mum and then being told I had ms for it all to be undone which is great but I do feel something is wrong..

however I am moving forward I’m on a trial of hydro and I’ve been exercising and eating healthy.

My Doctor told me not to read to much into the lesions it can simply be migraines silent ones even..

I have a interview for a pharmacy assistant in the 5th so mentally I am trying to put it behind me an move on it’s just ticking in the back ground I just want to be around for my children so badly and do not want them to watch what I did literally trying to catch myself before I even fall it’s so tiring.

I appreciate your advice and yes I’ve been told ss is a possibility the doctors seem to be moving slowly and I know it’s because they don’t share my panic but I can’t help it.

It’s been a year nearly.

I know that’s not Long for a diagnosis and people wait half a life time it’s just mental torture.

I don’t feel as if I’ve been aloud to grieve for my mum if gone from loosing her to feeling like I’m going to loose everything dramatic I know

Xxxx

in reply to Buckley123

Not being dramatic no. But allowing yourself the chance to grieve properly is important and the impact of losing a parent shouldn’t be underestimated as a potential trigger for neurological symptoms or pain.

I can’t recall if you’re having bereavement counselling or any kind of psychotherapy but if not I think you should try to access this if possible. As several people here are always telling me - the mind and body are very much interlinked and you clearly are always worrying about the hereditary side of things. If someone could just talk all this through you may find all the waiting and lack of clarity much easier to bear if it’s a problem shared with a person qualified to listen and help you unravel symptoms, emotions and signs (ie test results).

I think this uncertain stuff we all have to cope with would would try the patience of a saint to be honest! X

Buckley123 profile image
Buckley123 in reply to

You know twitchy even with multiple lesions on my brain which in its self would indicate ms from even when I was first told I didn’t really believe it to be ms and I’m actually not worried about ms at all tbh.

No counselling my mums peace hospice nurse reckoned I needed it even before my mum died but I just got thrown into all this 2 months to the day she died so I didn’t really get a chance.

I miss her very much the worst part is knowing her fear first hand now explains but not excuses the way she behaved when I was younger ( long story )

How are you anyway xxx

in reply to Buckley123

Aww I know. My parents both dropped dead suddenly and unexpectedly and my RA pain started 18 months later. I was diagnosed with RA but just knew I didn’t have it. It took five years to get the diagnosis changed to primary Sjögren’s. I don’t concede much to the people who say my twitches abs tremors are functional overlay but I do concede that these sudden deaths coinciding with the onset of my menopause contributed to the RA type symptoms.

It’s not too late to ask for bereavement counselling at all you know X

Buckley123 profile image
Buckley123 in reply to

Thanks twitchy I will think about it not a great believer in councillors tbh but il give it some thought.

Sorry to hear about you parents how awful❤️

Have you looked into negative aps ? Twitching is very common with aps xxx

in reply to Buckley123

It’s hard losing parents under any circs but sudden death leaves its own legacy - although I think I was probably lucky in other ways, I have so many friends with parents with dementia now and glad mine escaped further onset of theirs at least.

I had councelling before moving here and I think I was better off for it. It’s good just having someone professional to off load the stress and uncertainty and difficult memories etc on - can be helpful - particularly for the health of our other relationships with family and friends including our children.

Yes I have looked into seronegative APS. I think it’s probably quite a strong contender but my CTD is the local APS man and says no as I’ve no stroke or DVT history is far. I’m at the stage where I can’t be bothered to argue - I just accept that I almost certainly have overlapping CTD having been born with a huge haematoma on my head and many more since. I’ve always had spells of twitching all over hence my avatar name! Xx

Buckley123 profile image
Buckley123 in reply to

Yes I can imagine I had a similar conversation with my friend who woke up one morning her mum had died she told me I was in her eyes lucky to say goodbye which is true I did day and night for 8 years unfortunately I watched her choke struggle to breath and bit by bit disappear so in some ways I wished it to be over sooner x

Yeah I did try once but I found it useless I’m quite used to being under stress of some kind.

I have had no stokes dvts but doc kaul still suggested it as a strong possibility.

See I’ve never had a twitch before this all started xxx

in reply to Buckley123

No you’ve not been lucky at all - it’s all so hard.

My grandparents both died in a car crash on my 11th birthday and my mum had a nervous breakdown afterwards. My other grandparents had both died by the time my dad was 22. My best friend lost her only child suddenly age 19 from misadventure.

I do know it is very hard to accept and deal with sudden death at the time and people are always telling me now that I’m lucky not to have seen my parents die slowly, suffering, sometimes so they eventually don’t even know their own children.

I think what you went through would be far worse than what I’ve been through - but nervertheless the shock of it feels very hard at the time. Just as you worry that you might put your children through something similar to what you went through - I always worry that my husband or children might suddenly be struck down in some way by illness or by accident. I think seizing the day has a lot to be said for it - and also planning fun things and fulfilling ambitions and enjoying the small pleasures as Lisalou advises. Xx

Buckley123 profile image
Buckley123 in reply to

100% I’m sorry things have been so difficult for you always I said to my grandad when mum died that it seemed people just sail through life he said no you just don’t hear of it everyone has there troubles. I’m very open about my life as I feel it helps people to not feel alone ❤️ life’s hard.

I’m making steps to create a new life perhaps a happier one

Thanks for taking your time to talk to me. Xx

Jade,

Stop ✋🏼 right there.

Wait until your guys appointment

Honestly they run bloods that you’ve likely never had!!!!!! All mine were negative before I went there.

Also you keep photos of all physical symptoms. My notes state enough physical lesions to support a connective tissue illness.

If on the day of your appointment they see symptoms they record them under your diagnosis. My list is quite extensive now

X

Buckley123 profile image
Buckley123 in reply to Lisalou19

I know you are correct just getting itchy feet with it all xxx

Lisalou19 profile image
Lisalou19 in reply to Buckley123

I know chick, and it’s hard sometimes.

As they say slow and steady wins the race 😉

Your getting there and if it was something gastly they would have picked it up by now. X

Buckley123 profile image
Buckley123 in reply to Lisalou19

Yeah true it’s just horrible isn’t it always hanging over you if I had a name I would make a plan I don’t like not having a plan of action

How are you x

Lisalou19 profile image
Lisalou19 in reply to Buckley123

I shouldn’t have put I liked that.

I think searching for a name is not a good idea. You need to search for the answers to what is causing your symptoms.

You can still make plans, plan away. It’s better to live by plans then to live Day by day. I recently learnt this through therapy. Without plans it’s far to easy to right a day off as a bad day.

If and when they give you a name, this doesn’t need to define you as a person.

I hope I make some sense and I’m helping. Don’t get me wrong I get bouts of health anxiety and it’s not nice.

Xx

Buckley123 profile image
Buckley123 in reply to Lisalou19

Yes I guess that’s what it is in fits and starts health anxiety xxx

I have met serum criteria and clinical criteria and thus have diagnosis of two named disorders, have multiple brain lesions from both known and unknown causes (turns out a few new lesions every five years are normal in even healthy aging people) and other than warfarin, that does not do anything for symptoms but hopefully will prevent clots but at the expense of minor and sometimes major bleeding, I am in a watch and wait pattern for further treatment for my diagnosis.

Treatments are not without serious risks and should be held off for when most needed. My DH has a kidney tumor which, three years ago was deemed malignant. It was an incidental finding when he found he had rectal cancer (which was advanced enough for surgery and treatment). The kidney tumour was small at the time so not much risk of matastasis so according to new proven protocol he was put on watch and wait active survalance. It has not grown at all yet in three years so by waiting and not over acting for fear when the word cancer was mentioned he has been able to keep his kidney and has no signs of any cancer anywhere else in his body. Watch and wait survalance is common in both diagnosed and in unnamed diseases.

My doctors' plan is to monitor, prevent and treat controllable issues such as metabolic syndrome by having me control my weight( stay under a 25 BMI ), blood cholesterol and sugar, ( statins if needed diet is better though) blood pressure( reduce stress) and to work at keeping a Consistant healthy heart rate and lower ESR and CRP inflammation (by exercising daily). I do these " treatments" and the doctors regularly survalance my blood and body for changes. Then if things get worse pharma will be introduced. You are doing the same with or with out it named.

Xo

Buckley123 profile image
Buckley123 in reply to Roarah

Thanks 🙏 I appreciate your reply sorry to hear about DH issues it’s a nightmare isn’t it dose not rain but it pours xxx

How are you xxx

Roarah profile image
Roarah in reply to Buckley123

Thank you for asking. I feel really well considering where I was eight months ago. My DH just had his three year CRC checks and scans and is NED still so we get to breath without "scanxiety" for six more months ;).

Buckley123 profile image
Buckley123 in reply to Roarah

I’m glad you get a little break from it all xx

I am afraid, Buckley123, you are a very complicated and elusive case. There is a lot written about how difficult people like you with MS-like features, abnormal MRI, and both positive and negative blood tests are. The way I would look at it is that you have academic doctors who see patients like you with greater frequency, and they will be able to make a diagnosis when your illness presents itself in a way that makes it possible. My sense is time is the most important factor. They need to see how you develop. They are repeating the MRI to see if there has been any change.

So try to be patient with your doctors and hope for a good result on your MRI.

Xk

Buckley123 profile image
Buckley123 in reply to KayHimm

Thanks mate again I appreciate your advice just having a health wobble cxx

Yes, as both TT and Lisalou have said, you will continue to have blood tests and other diseases that have neurological features will be considered too. Lots of diseases are diagnosed with negative blood work. And blood work can also become positive. Many of us became positive later.

Xk

Buckley123 profile image
Buckley123 in reply to KayHimm

How are you xx

KayHimm profile image
KayHimm in reply to Buckley123

I am doing well, thanks Buckley! Feeling good after a little sun-induced flare. Have quite a few tests coming up. Once they figure out what is going on with you, they can also treat neurological symptoms through a multitude of ways. I take aspirin, an anti-seizure drug, and anti-depressant drug. They all quiet down the brain.

Hang in there. When is your appointment?

Xk

Buckley123 profile image
Buckley123 in reply to KayHimm

Glad to hear you are feeling better ❤️

Not till the 27th at guys but I have a brain and spine mri in the 5th of August xx

Lisalou19 profile image
Lisalou19 in reply to Buckley123

Are you having this done @ guys? They did my mri of brain and spine. Apparently I have ware and tear in my spine at the top!!!! Strange I don’t have problems there, but nether less I do not have ms , hopefully this will clear up some of the anxieties for you. I’m confident in saying this Jade, guys will give you a full mot. Hold in there chick and if things get too much I’m always here for you 😘xx

Buckley123 profile image
Buckley123 in reply to Lisalou19

No at royal free hospital I’ve had one done by charring cross 9months a go which showed active lesions and scarring xxx

Lisalou19 profile image
Lisalou19 in reply to Buckley123

You can ask for a copy of their report once completed to take along to your guys appointment.

It is good they are re doing the brain mri. I hope it shows no signs of anything active so you can relax a little.

You’ve got loads going on , on top of having your children. Try and be kind to yourself. Xx

Buckley123 profile image
Buckley123 in reply to Lisalou19

Thanks mate appreciated

How’s things with you better ? Xx

Im sorry to hear about your mom, my mom passed away from MS also. I do hope as others have mentioned, that will take some time to grieve her passing. It’s hard seeing someone you love so much suffer for a long time.

Aside from this, have you looked into B12 deficiency? Sometimes it has similar symptoms to Ms.

Buckley123 profile image
Buckley123 in reply to JennaShi

Hi Jennashi I’m sorry to hear this ❤️ yes I have b12 deficiency but I have my injections every 6-8weeks tbh I don’t have a lot of ms symptoms more aching joints headaches and muscle twitching jolting weakness the only thing I have relating back to ms are the brain lesions which I’m told are in the wrong place for ms my lumber puncture was negative too xxx

I also have lesions on my brain ! And the cause is vasculitis caused by mixed connective tissue disease

Buckley123 profile image
Buckley123 in reply to

Yes I’m being looked at for uctd which i know is very different

Hopeful to get some answers soon xx

MEGS53 profile image
MEGS53 in reply to

Hi. May I ask which tests were done to confirm that vasculitis caused the brain lesions. I also have many high intensity white spots and vasculitis has been suggested, but not confirmed. Thank you.

Buckley123 profile image
Buckley123 in reply to MEGS53

They haven’t been confirmed as anything still looking lupus or lupus like has been suggested but my bloods are all negative so far ms has been ruled out xx

MEGS53 profile image
MEGS53 in reply to Buckley123

Hi. I know how you feel about the negative bloods!! Actually, I was asking 'feelingpants' the vasculitis question, but has vasculitis been ruled out in your case? xxx

Buckley123 profile image
Buckley123 in reply to MEGS53

Oh sorry it gets confusing 😂 no I haven’t had it mentioned yet not sure what they have done and haven’t done anymore xx

MEGS53 profile image
MEGS53 in reply to Buckley123

I know that feeling too!!! Take care xxx

Buckley123 profile image
Buckley123 in reply to MEGS53

Let me know how you get on xx

MEGS53 profile image
MEGS53 in reply to Buckley123

Will do - I see my rheumy for review in a few weeks. I'm very worried what she'll say tbh. xxx

Buckley123 profile image
Buckley123 in reply to MEGS53

Don’t stress it is what it is we can only deal with what we have got I know it’s scary xxx

MEGS53 profile image
MEGS53 in reply to Buckley123

Yes, it's scary but I'm more worried that she'll dismiss me back to my GP without a Dx tbh. Don't know what I'll do then.....

Buckley123 profile image
Buckley123 in reply to MEGS53

Yes that makes sense I forget to scroll up 😂

in reply to MEGS53

By MRI mine are in the watershed area of my brain. I also had various blood tests / blood cultures. I was diagnosed. With CNS vasculitis and systemic vasculitis back in Nov 2018 I have since had a further 3 MRI brain scans the last one 3 weeks ago but that also included my spine aswell as brain.

MEGS53 profile image
MEGS53 in reply to

Thanks for getting back to me. Sorry, I don't know what you mean by 'watershed area'. Which blood tests and cultures were positive? My 2 MRI's, 2 years apart, showed high intensity spots which increased in size and intensity and there were more of them than expected for my age. Tricky these diagnoses, right?

Buckley123 profile image
Buckley123 in reply to

Did you get much change mines Monday after 9months since my last little nervous about it xxx

MEGS53 profile image
MEGS53 in reply to Buckley123

Please let us know how you get on. xxx

MEGS53 profile image
MEGS53 in reply to Buckley123

They said 'slight but significant' changes - whatever that means!

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