Your route to diagnosis

I have read the Lupus UK guide to diagnosis but my experience doesn't really fit this. I was wondering what path others followed to their diagnosis and how they managed to get a confirmed diagnosis - and did it take months or years?

My rheumatologist says I have an autoimmune disease 'in the lupus/sjogrens/fibromyalgia 'family' ' but won't be more specific than that. I have a mildly positive Ana and homogenous p-anca, but my more specific antibody tests were all normal.

I asked her what the next step is in terms of nailing down a diagnosis and she got annoyed - pointed out that it's good that my blood results aren't off the charts positive. Also wants to do MRI scans to check I don't have a brain tumour (I have mild cognitive problems when flaring plus numb legs/hands). She doesn't seem bothered about narrowing down a diagnosis, although she has put me on hydroxychloroquine and advised wearing factor 50 come rain or shine - which makes me think she does believe it's lupus.

Have others had the same issue? How did you finally get a clear diagnosis? Was it not until you had positive antibody results? Thanks in advance x

23 Replies

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  • Hello LuckyJC,

    I've only recently been diagnosed, and like you, my rheumatology consultant is reluctant to specify it as SLE/Lupus. Depending on who he is writing to, I am currently headlining as "Connective Tissue Auto-Immune Disorder/Sjogrens" or "Auto-immune disorder and Insterstitial Lung Disease" or "Overlap Syndrome".

    My sense is that there are a number of reasons for this. I gather that the symptoms - and the underlying disease processes - are quite complex and indeed overlapping. So the clinical picture is dynamic and hard to pin down. Also, since I was first referred to him only in April of this year, and started on immune suppressant therapy in June, he wants to have more of a history to go on.

    He also says that at this stage, from a clinical point of view, the precise diagnosis is not an urgent issue because the treatments would be the same for the whole spectrum of likely possibilities.

    I'd be interested in other people answers, in case i have this wrong!

  • That sounds very similar to what mine has said at various times - but you've explained it a lot more clearly! I guess there is a lot to be gained from them observing the course of a disease and seeing how you respond to medication. I just find it so frustrating not to have a name for the disease that has pretty much ruined my life! Your explanation makes a lot of sense, thanks v much

  • Thanks - I'm still trying to figure it out too! I'm under 4 consultants and each of them has played a part in unraveling things. I started with heart and breathing symptoms, and was told I had heart failure. The blue hands were interpreted as poor circulation/O2 saturation. The joint pains were interpreted as related to a longstanding back problem and the aftermath of breaking my femur and hip 2 years ago.

    Only after going onto Beta blockers, ACE inhibitors, and a cardiac MRI, did it become clear that there was a different underlying problem and I got a rheumatology referral. That brought it all together - the hands were actually Reynaud's and the breathing and joint pain was due to a general inflammatory process. So then I got seen by the Respiratory team, who were able to confirm that the lung problem was quite serious, but also secondary to the autoimmune disease .

    I'm still in a state of shock, really. This time last year, I was mountain walking every weekend and planning a backpacking trip to the Rocky Mountains. I was going to move home and start a new role in the job that I love. Today, I had to lie down for two hours after going to the corner shop for a paper, and have started negotiations to retire on ill health grounds...so I know what you mean about this disease "ruining my life"!

    Hope things get easier for you soon.

  • I totally understand your frustration and pain... but don't forget you are still that person. You are strong, brave and determined... mountain walking does not sound easy :) this is a bad period in your life, but it will get better.

    Hugs!

    Sam

  • Thank you Sam. It's not the sort of thing that I say to anyone in real life - I'm determined to appear positive and coping and all that - but it's good to feel that there *are* people who appreciate how tough it is X

  • Thanks, sounds like you're having a mega tough time too. If it's any consolation, yesterday I consciously didn't leave the house so I could conserve enough energy to go to the pet shop today for cat food! Then I'll be lying down for the rest of the day. Oh the spoonie life...

  • Thanks, I expect the cat is happy though! x

  • Hi. I think whisperit has pretty much said it all. I believe that diagnosis of a specific auto-immune disorder can take about 7 years however there are many non-specific ones that will take an awful lot longer. I've gone from Lupus dx to UCTD and am now back to Lupus again (without antibodies) however I believe that I have an element/overlap of Palindromic Rheumatism or Ankylosing Spondylitis also. It's taken 26 years so I'm fairly relaxed about the title now but I do realise that it is the treatment that matters. Suppressing the immune system is key in all but Fibro.

    Keep a symptom diary and take photos. It's also interesting to read other people's posts to see the journeys that they have taken. Good luck and I hope you are soon feeling better. Clare x

  • Thanks, I'm already feeling better to know that others struggle with the uncertainty as much as I do. Sounds like you're in a similar position of multiple overlapping diseases. Makes me wonder if in 50 years they'll realise that there's an as-yet-unknown factor connecting all of these diseases, and we'll all be diagnosed with an umbrella term for it. If you are coping with it after 26 years it gives me hope that I should be, after only 18 months! Thanks x

  • I think many of them them already do know that there's a great deal that they still don't know about auto immune diseases. I have been lucky enough to have instant recognition and treatment from my very first appointment and Ive always been the one to doubt my lupus dx rather than my doctors! I've grown old with my SLE/UCTD and, sad as it sounds, I simply can't imagine life without the unexpected flares, swollen joints and other anomalies that it throws at me when it's in a bad mood!

    Try to keep it in its place so that you still have a life and don't be afraid to winge and grumble to your rheumatology nurse when things aren't going well - it's the only way they can know if you're struggling xx

  • I suppose from a diagnosis point of view I was lucky my blood test proved without a doubt I had lupus I was sent to see a consultant straight away and he said I had the highest level of ds DNA they had seen and asked me to go into hospital for test , they suspected I had Renal involvement straight away and a kidney biopsy confirmed it x

  • Hi there

    In 2013 I went to a rheumy and he said exactly the same, mentioned lupus then quickly came back with let's not worry about a name for the condition let's start treatment, 6 months down the line I asked what to call it and he said UCTD might as well said ABC cos it's not recognised by other health care professionals or bloody benefits, sick & tired of not really knowing diagnosis despite having panniculitis in both legs which is connected to lupus but my ana tests are still negative but esr through the roof! I have researched and quite a few people have been tested again 7 years on and got a positive test, my family don't understand it in sure they think I'm a hypochondriac, I've had to give up work cos of the flares and pain so depressed. I use to be jovial, level headed etc and now I'm so anxious and fretful

    Many thanks for reading

  • I really recognise those feelings, I feel the same. Life has changed beyond recognition yet there's 'no one' to blame. I find one of the hardest things is the constant stream of new symptoms. We're all conditioned to go to our GP with new problems or worrying symptoms, and yet my GP never knows what they are! The worried look on her face always makes me panic and then laugh! Is so strange re your blood results - I have the opposite, a positive ana but normal esr. I reckon in years to come they'll decide that the blood test results are all completely random and no help at all! Sorry you're feeling so down, I completely sympathise. Not for everyone but I was put on an anti-anxiety/depression drug last year, Sertraline, and it has really helped me. X

  • Luckyjc have you researched APS/Hughes syndrome/"sticky blood". It can cause cognitive problems and numbness.

    There is a forum her on healthUnlocked "sticky blood Hughes syndrome,"

  • Thanks Baba, yes I've heard of it and will ask my rheumy next time. Thing is my clotting is apparently normal and I've never had a miscarriage so I suspect they won't look for it. Will mention though x

  • Hi

    I think alot on here are in the same boat, including myself. From what I can gather from my rhumy, they cannot DX you until the illnesses progress further. I have postive ana and lots of symptoms, and still have not been DX with anything conclusive.

    I think it is a wait and see process and in the mean time, we are just given meds to manage the symptoms.

    I think most of us are waiting for a DX and are quite frustrated because you are left in limbo land, but as far as I can see it is a long, complicated drawn out process to dx.

    I think we just have to be patient, it is hard I know, it is for me, because all I want, is to know what is wrong with me.

    There are so many Rheumatology conditions that have very similar symptoms, it is a minefield, so in a way I can understand dx is difficult, but still frustrating!!!!!

  • What you've said makes a lot of sense to me, it does seem to be a case of waiting until the disease progresses and really 'shows itself'. Although I find it odd that it seems to be 'let's wait until you're really SERIOUSLY ill and then we'll worry about you' 🙄 The thing I find so hard is the lack of a named disease to blame it all on...the cause of all my problems. But I guess I just need to be patient and manage the symptoms as best I can...

  • Hi yes I want a name also but don't think I will get one anytime soon. I have been on the treadmill for 5 years now i still feel I am no further forward.

    I am now also on hydroxychloroquine 400mg daily, along with arcoxia, an anti inflammatory drug which I take as and when doing very well on them. But I have found since begin on hydroxychloroquine i am needing arcoixa less and less.

    At the moment all I can say is, on these medications I have my life back, like I did when I was on the steroids which were previously prescribed.

    So whatever the illness is, the meds are working and I am glad of that, I hope it is working as well for you x

  • I've been helped by a poster here saying that time in the rheumy world moves much more slowly than in the outside world. I'm beginning to accept that several diagnoses of various things will do, as long as I'm given some treatment. Having said that, I would prefer to have known I have secondary, not primary Reynaud's, as a musculo skeletal chap assumed I knew ( as he was giving me steroid injections in each hip). Just about every inner organ was investigated last year, with no feedback, so I assumed all was fine. In terms of others around me thinking I'm a hypochondriac, I'm "lucky" enough to look dreadful. Every little helps grrrrrr

  • Lupiknits - lol at "I'm lucky enough to look dreadful". That has been really helpful for me too! Especially at work - my Reynauld's was/is so obvious that the till woman in the canteen took my hands and tried to rub some colour into them "Oooh, lovely boy, you must be perishing!" And when I talked with my boss about sick leave, my breathlessness was so bad that I could hardly finish a sentence...x

  • I know exactly what you mean-in a way it's easier if you look terrible! Old consultant once said when I walked in 'well you're obviously feeling a lot better', because I saw him after work and had therefore clean hair and some make up on! You're so right, it is the treatment that matters, and I am at long last being taken seriously enough to be on serious medication rather than 'take paracetamol and I'm sure that'll help'. Like the line about time moving more slowly in rheumy world - I'm going to write that one down! Thanks x

  • My first rheumatologist diagnosed me with inflammatory arthritis, he did say that I had a lupus type disease. That's really not what I wanted to hear at the time so I just put it out of my mind.

    He put me on sulphsalazine which helped alot for a while so I just got on with life.

    They things got worse and her swapped me to methotrexate, which made me very ill. I ended up in hospital having a lumper punture, as they suspected a brain haemorrhage.

    After the I transfer to a new consultant closer to home, who did the tests and diagnosed me with SLE he put me on azathioprine and again I improved slightly before having a major flare.

    I did not get on with this doctor, possibly because he told me I had lupus, I don't know, I just found him very dismissive and disinterested, and it got to the point where just attending my appointments with him made me sick

    Aventually both my husband and an orthopaedic consultant that was also treating me at the time insisted that I asked to change.

    My present consultant immediately changed me to mycophenolate, and after a promising start I'm having some problems with it.

    The difference is the He listens to me and we work together to optimise my health.

    I now can attend my appointments on my own, without husband for backup, and mostly I don't come out crying☺

    I also now for the first time see the specialist nurses who are fantastic, they always talk to the doctor and get me a quick appointment if I need it.

    It's so important to get on with the team who are caring for you, if you don't believe that you have the right person, I would advise you to find someone else.

    Good luck with your treatment, whatever you decide 🍀 🍀 🍀

  • Hi luckyjc

    I can completely identify with your post, the difficulties of getting a diagnosis!.

    I've been diagnosed with UCTD for 29 years now and I felt exactly as you do that it wasn't really a diagnosis and I'd ask my different ConsultAnts if they could be more specific as I felt I needed a better label!. It's been thanks to this forum that I've learnt that UCTD is a better explanation than I thought, feel it justifies my struggles and I understand the difficulties the Consultants have better!.

    It's important to tell your doctors about any new symptom that might prove the illness is changing . Luckily the treatment is the same whatever our label which is important as it would be terrible to think we were missing out and worsening without the proper recognition!. It's a stressful situation as it is thinking is this the moment it shows properly?. I've learn't now my illness is less likely to show properly so will stay UCTD as it's been so long!.

    You saying you've had your life ruined because of it really resonated with me as I have too but over the years I've had to accept that I lead a very different life . Not easy to do but given time acceptance will come , meditation is a big help. It's no good railing against it too much as you won't change anything. If only it were that simple!.

    It is wonderful being on this forum learning how I'm not alone in my struggles and I hope you feel the same benefit sharing too. I'm glad your getting an MRI for the numbness. Good luck for the results and keep posting X

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