First rheumatologist appointment

[Haylz2109]

Hi all just looking for some advice if possible please, I've been undergoing tests for nearly 2 years now diagnosed with fnd (functional neurological disorder) back in November 2020 and had blood testing for lupus a couple of times which showed up negative but I've had high liver enzymes since 2013 which only got picked up now when discussing the fnd situation. All my symptoms point towards lupus the only thing I don't have is swelling currently, I'm being referred finally to a rheumatologist and have an appointment for December im just wondering do they normally diagnose on first appointments based on my long list of doctors appointments and tests ? I have been referred to rheumatologist by my gp for lupus and by my gastronolgist for fibromyalgia so not sure if its one or the other but keep having a really sore butterfly rash appear that's what's concerning my gp more. Hope this makes sense thanks in advance for any responses. 💗

[PositiveT]

Hi Haylz2109. Welcome!Depending on your most recent blood test prior to the appointment will make a big impact on the consultant diagnosing you or not on the first appointment. With your existing medical background and the tell tale rash they may well diagnose on the first appointment.

The best tip I can give you is to make a diary on a piece of paper between now and the appointment to show them your pain and symptons. It can be a simple bullet point eg: shoulders-pain 8/10, rash on face that sort of thing. This will help the consultant to give you a quicker diagnosis. You can buy a diary booklet from the Lupus charity website for 10p.

I wish you all the best and do come back to the community for help. We are all routing for you!🌻

[Haylz2109 in reply to PositiveT]

Thank you very much for your response, i do have another blood test on the 3rd so 3 days before my appointment with the rheumatologist I'm just worried because it never shows in my ana results and lupus comes back clear but liver enzymes remain raised no matter what. Thank you for that information I have been keeping a diary myself for the last 3 months or so because I wasn't getting any answers as to why I feel so rubbish constantly because fnd wouldn't usually make people feel so rubbish it just causes neurological issues. I really hope that with all the information I've had from the past 2 years it may not take much longer to have some answers but trying not to get my hopes up in case they want to do more testing before finally diagnosing or something. Yes I will definitely be coming back its just been a long journey so far but know mine is shorter than most. 💗

[Roarah in reply to Haylz2109]

Without positive serum and extensive organ damage( especially kidney and heart) the newer criteria for diagnosis automatically excludes you from a lupus specific diagnosis by most rheumatologist presently. This does not mean you will not perhaps be diagnosed with another rheumatic disease, but be prepared knowing that it might be unlikely and is not a sign of the physician not listening but rather a sign that the physician is up to date in the current “ best” practices and is likely also current in best practice treatments as well. Your liver enzymes may point to a damaged liver so might help towards the diagnosis.

Before my first rheumatologist appointment I was given a lengthy pre questionnaire to answer that the doctor reviewed before meeting me. Than she asked my history for about 45 minutes. Did a quick exam of skin, joints, heart and lungs and than discussed treatment options. I just had a very short list of questions that I found I did not even need for during the interview part of my exam she had answered many of my questions.

I was serum positive at that time three years ago. Presently I have had perfect bloods so I was just dismissed from my regular visits and will see her only if things change. My hematologist, cardiologist and neurologist will see me yearly for now and run my blood panels.

[Haylz2109 in reply to Roarah]

Thank you for that information, I was not aware the criteria had changed guess ill just have to wait to see what they say then and hopefully have some answers as I can't keep struggling on like this. That's the thing I've had a fibroscan a ct scan an mri scan and a liver biopsy already done and all have come back clear so no results there but they can't work out why the enzymes are still high and have been for 8 years. I just want to get some normality back and be able to look after my kids etc. I am glad to hear that yours has calmed down and you don't need the regular appointments right now. Thank you again for all that information. 💗

[Roarah in reply to Haylz2109]

Have you had your niacin levels tested? Niacin deficiency causes high LFTs, marlar rashes,sun sensitivity, fatigue, mouth sores, joint issues and after long enough cognitive disfunction. Very similar to lupus.

[Haylz2109 in reply to Roarah]

I'm not sure if I'm honest half the time I haven't been informed what they are testing for and such but I will bring it up to them if they don't bring it up in this appointment thank you for that.

[MusicalFurbaby]

My rheumy diagnosed me on the first appointment—but only because I’d been seeing doctors and getting tests for 8 years prior to that, and he had a lot of info to work with! Info is your friend, so write down every symptom you can think of and take it to your appointment. Include everything—sometimes even tiny symptoms like sore toes or split nails can help. Bonus points if you can also write down tests you’ve had, along with their dates and results. Extra bonus points if you can list all the medications you’ve tried and when and how long for!

[Haylz2109 in reply to MusicalFurbaby]

Thank you very much for your response, I understand ive been under a gp a neurologist and a gastronolgist for the last 2 years and the gastro and gp believe that there is definitely an underlying autoimmune disease due to the liver enzymes still being raised no matter what we try so its just trying to figure out which it is as fnd is not an autoimmune disease. Thank you my gp is positive that with his referral and write up along with the referral from the gastro it won't take much longer to come to a diagnosis even though the bloods don't show lupus directly. I have been keeping a diary for the past 3 months or so due to the fact that I'm still feeling so rubbish and not having answers and fnd would not really cause a rubbish feeling as its mainly neurological so I'm at a loss if the rheumatologist does not agree with lupus as I have no clue what else it can be. Yes we'll ive noted down all the ulcers random bruises how i struggle day to day etc and no medication has responded well with me ive either had a severe allergic reaction for the first time in my life or it just hasn't helped and made things worse so I will also make a note of them prior to the appointment but also hoping the gp has done a good write up because he's been along the journey with me for the last year or so once I found one willing to help! Sorry for the long reply its just been a lot and I struggle due to having 2 young kids that I can't care for alone anymore so just hoping for some road to recovery or normality in a way. Thanks again 💗

[MusicalFurbaby in reply to Haylz2109]

Well done on all the diarising you’ve been doing, and caring for 2 kids as well…I don’t know how you do it! Hopefully the diagnosis is not too far away, then you and your doctor can formulate some kind of plan. All the best with it x

[Haylz2109 in reply to MusicalFurbaby]

Thank you, I'm lucky I have a very supportive partner their father who is currently off work to care for me and them and I do try to make the most of my good days so they know mammy still loves them and is just unwell most days. 😔 thank you very much i really appreciate the support 💗

[MusicalFurbaby in reply to Haylz2109]

How fortunate you are to have all of that wonderful support. It makes all the difference x

[Haylz2109 in reply to MusicalFurbaby]

Thank you 💕 it definitely does i don't know where I would be without the support I have, I'm very lucky! I have also got a big family and my partner does too that would help but I don't like to ask or show them my bad days yet xx

[KayHimm in reply to Haylz2109]

Haylz2109 -

If two specialists think there is an underlying autoimmune illness causing symptoms, it seems unlikely that will not be confirmed. Sometimes the rheumatologist cannot be specific in the diagnosis and will give a tentative diagnosis such as probable lupus or lupus-like autoimmune disease. They look at the total picture. The neurologist may see abnormalities on exam or scans.

There are many other blood tests besides the ANA that can make doctors suspicious of an autoimmune disease. I only had anemia of chronic disease and elevated ESR in the beginning.

If you feel comfortable summarizing your symptoms and lab work we may see similarities, though we can’t diagnose.

By the way, I have lupus-like neurological issues. I do not have lupus but undifferentiated connective tissue disease. Treatment will be the same once autoimmune disease is confirmed.

Best of luck

K

[Haylz2109 in reply to KayHimm]

Thank you for that information, I was just curious as to whether they do give a diagnosis or something along those lines on a first visit. I can understand they will look at everything and I was not aware that there was other blood tests the rheumatologist could order that the gp can not so that's definitely a plus in hopefully going forward and knowing what is actually happening.To be honest I have so many symptoms I wouldn't know where to begin its been a very lengthy couple of years with all of this happening and I know there are a lot of similarities between different autoimmune diseases so could be something completely random for all i know. 🙈

Thank you for taking the time to reply I do appreciate all the information and support 💕 I had never heard of undifferentiated connective tissue disease until you mentioned it here so that is also interesting. I hope you are doing well. Hopefully I will be posting here in a weeks time with more of an update or understanding. Thanks again 😊

[KayHimm in reply to Haylz2109]

Yes, in some cases the rheumatologist could give a definite diagnosis and in others not. They may order ultrasound of your joints or refer you to a specialist as well as doing new labs. There are many possibilities.

You may want to ask at the visit what the rheumatologist’s best guess at a diagnosis is.

By the way, the rheumatologist is not the only one to diagnose autoimmune disease. They usually diagnose the systemic conditions but their are organ-specific autoimmune conditions that a neurologist, nephrologist or gastroenterologist would diagnose. Your GI doctor may be concerned because of the liver signs you have. They work together to diagnose.

K

[Haylz2109 in reply to KayHimm]

Thank you for all that information, its definitely been really helpful knowing the ins and outs of what a rheumatologist can do as i never even knew before about them usually the only other times I've been in the doctors is for pregnancy or migraines so the rest im oblivious to 🙈 Thank you i will ask at the appointment, i have seen a neurologist and the gastronolgist a lot but the only diagnosis the neurologist gave is the fnd and the gastro is stumped tbh which is why I've now been referred so will just see what goes on now 😊

Yes that's why the current gp and gastro have been trying to work together and have both now referred me so hopefully with all the information they both provide i maybe in good sted to find out what is actually going on or at least a better idea than now. 💕

[baba]

Fortunately there are still doctors who can diagnose on “signs and symptoms” without waiting for “extensive organ damage”.

Good luck.

[Haylz2109 in reply to baba]

Thank you for that information, I would hope so as I can imagine some extensive damage can be irreversible. Fingers crossed now 🤞🏻 thank you for your response 💗

[Foggyme in reply to Haylz2109]

Hayleyz2019. Sorry, I can’t stay for long right now (head and eye issues make screens a nightmare) but just wanted to leave you some information and add a supportive voice (and also say - what a very good point from baba ).

Here are the British Society Rheumatology (U.K.) guidelines for the diagnosis and treatment of lupus.

academic.oup.com/rheumatolo...

If you look at TABLE 4The ACR criteria for classification of SLEa and the further classification section, this outlines the criteria for the diagnosis of SLE. (Table four outlines 11 criteria, 4 are required for a lupus diagnosis - but keep in mind that there are many other autoimmune conditions, often with symptoms very similar to lupus - so not having lupus doesn’t rule out other treatable autoimmune conditions).

It’s worth noting that U.K. (BSR) and USA (ACR) guidelines for the diagnosis and treatment of Lupus may vary.

More in brief…

I'm sorry your having such a rough time getting a diagnosis - it’s not unusual, unfortunately.

Your rheumatologist is most likely going to want to run more bloods (there are many autoimmune conditions and they will be able to run tests perhaps not available to your GP)

Sometimes it does take time and consideration to arrive at a diagnosis - but not having a diagnosis should not be a barrier to treatment if an autoimmune condition is looking likely (it might just take a while to identify which one).

The 'ideal' is to treat autoimmune conditions BEFORE damage occurs to major organs - progression to organ damage can be stopped (in many cases) or controlled/delayed, with appropriate and timely treatment. Many people with lupus lead 'normal' lives and don’t suffer from major organ damage when on a treatment plan that works for them (we tend not to see those folks here on the forum).

Please do explain about your poor quality of life and that you have children to care for - say that it’s very important and vital to you that you get some help in the form of a (perhaps) ‘first-step' treatment plan so that you can begin to function as a mother.

Be aware that…

Some U.K. rheumatologist are better than others (and some may not have read the BSR guidelines)

Be assured that you know you body better than anyone, you know that SOMETHING is not right, so be strong and be brave (not easy when having such a tough diagnostic journey).

Look on the lupus website - they have a good leaflet on preparing for appointments and suggestions for questions you may want to ask.

You may be lucky enough to see one of the better and knowledgable rheumatologist… I sincerely hope so. But…

Please don’t be downhearted if the appointment does not go as well as you'd like. This sometimes happens, based on the knowledge and skill of the rheumatologist you see. If you come away feeling that things haven’t gone as well as you'd like, please post here again and ask for further advice (i.e. getting a second opinion, other routes to diagnosis etc).

Might be worth adding that there are NO diagnostic or evidential tests for fibromyalgia or FND. They are both diagnoses that should be 'arrived at' when all else is ruled out. (For the sake of clarity, I have no wish to cause upset or offence to any who have either of those diagnoses and are accepting of that diagnosis).

I'm quite foggy right now, can’t remember what you said in your post, and my eyes are protesting, so I have to go. Just hope that I've said a few things that might help.

Many here have had extremely long diagnostic journeys and will be willing you on. Please post and let us all know how you get on. Very best of everything and chin up…💪😊xx

P.s. time goes very quickly in appointments. It will help if you:

1) make a concise billet point list of all your symptoms

2) include concise details,of,your full medical history (I discovered that things that had been happening for years were significant - it was just that nobody had joined all the dots

3) Add your questions to the list above

4) decide what your 'take-aways' are (the things you want answers to or would like to happen)

5) ask the 'where do we go from here question (including how you get any test results (if they do more), when you will be seen again, and who do you contact if things get worse before then. xx

[Haylz2109 in reply to Foggyme]

Thank you so much for all that information and for taking the time to respond, I will look over those links now to fully understand things a bit better in relation to how they diagnose etc. Yes I'm trying not to pin everything on lupus given that it can mimic many other disorders or diseases its just the one thats cropped up more than once especially with the symptoms. Luckily my gp does know the rheumatologist I'm seeing and he does come recommended as he actually treats the Gps own mother and he is the one doing a big write up for the appointment along with the one who I saw about a year ago and just broke down explaining how I can't live a normal life and how I cannot look after my kids alone luckily their dad is great and does it all whilst also looking after me but it does get me down as I never had this planned for my kids if that makes sense I had so much else in mind of how I wanted to be a mum and I was able to do with my daughter but after my son its just gone from bad to worse.

I know it definitely takes a while this has taken me 2 years alone just to get to this point and I know that's lucky, my gp has tried medication to help with my fnd symptoms and my migraines but most didn't help one almost put me in hospital from serotonin syndrome and others have made it worse which is why he's now more reluctant to trial medication with me without knowing what he is treating exactly.

Yes I definitely know my body isn't right and hasn't been since I had my second child first they thought bells palsy due to left sided droopness in face and numbness then when I started having involuntary muscle movement and tremors they suspected ms which was ruled out thankfully then they found a colloid cyst in my brain just by coincidence due to the mris to rule out ms so its just been a lot of possibilities and no real answers aside from the cyst and the fnd diagnosis, which funnily enough once i had the fnd diagnoses all the doctors aside from my current one now kept putting down new symptoms or my pain etc to the fnd and not doing any checks etc or helping so I'm glad the current one is helpful and looking into things still rather than just putting it all under than fnd diagnosis.

I understand where you are coming from with the diagnosis of fnd and fibromyalgia which it could be both of those or it could be something else entirely I guess only time will tell.

I definitely will come back to update you or if I have any further questions and I really do appreciate the support you are giving.

Yes I will definitely be taking all my notes in with me and I will write down some questions prior so I don't forget anything! Yes we'll funnily enough i have suffered with ulcers so severely throughout my later teens into my 20s and went to the doctors but they kept fobbing me off so in the end I just put up with them and didn't bring it up to the doctors again its only now that they are making sense this could of possibly been linked or a first sign as i still get them now usually covering half of my mouth and last for so long sometimes can't eat or drink with them its horrific but because I got fobbed off I just got on with it.

Yes I usually always ask where do we go from here or is there any other options whenever I see a Dr or specialist and my current gp is so great I know if anything new came up or continued I could bring it upto him and he will take it further thankfully. Its only because of my liver enzymes being high and my ongoing symptoms as to why things are being pieced together now, I think had i not of had anything show with the liver I would of been given the fnd diagnosis and left to it so glad I've got a supportive doctor now to continue with.

Sorry for such a long reply 🙈 thank you so much for all that though this all helps going forward and knowing how to discuss it with them etc 💗