Seronegative connective tissue disease - Dr thinks Lupus!!?!

[Jo883]

Hi everyone,

I have read others accounts of having seronegative Lupus so it must exist.

My diagnosis on paper is - ? Seronegative connective tissue disease ?

After a year of being practically house bound I have managed to get to see a rhuemy. It has not been easy.

I am now on 2 x 200 planquinel and 7.5 mg of pred, it has helped a lot but I seem to be in one long flare - which then peaks and can take weeks to recover from. I'm not sure if this is just the way it is with me or there's something else going on. I too have a long complicated history.

At the start of this episode I went down with a flu like virus - the same as the rest of my family, only they recovered and I had mine for over a month and felt lousy - after that I started getting stabbing pains in my knuckle and watched a lump come up on my PIP joint, then the backs of both knees swelled up and I was told I had bi-lateral bakers cysts, they ruptured before the scan and I had fluid trickling down into my calfs for 3/4 weeks (which i had twice in 1st year) I lost the peripheral vision in both eyes for about 8 months just had large white floaters, my feet kept going horrible shade of purple on top of having livedo reticulars and sicca symptoms. I also had sharp pain in my toe joints and felt like I couldn't put my feet on the floor properly as it felt like walking on pebbles, my elbows sting and get stabbing pains and when all this is combined with the feeling that my neck is swollen I know I'm in for a rough ride! It affects my speech which changes in pitch and tone and I get right sided facial ptosis with a numb right top jaw, cognitive disfunction and fatigue are awful.

I had thought this may be RA as joint pain is bilateral along with bilateral Bakers cysts but despite the pain there is only mild synovitis - I don't swell up like RA. All bloods r negative except slightly low vit D!

I have a long history - diagnosed with ME when I was 19 took years to feel well then started to have regular seizures didn't loose consciousness with them - could hear and see but not talk - had inconclusive EEG as had a fit on the bed when they put strobe light in my face.

Got sent to neurologist who diagnosed as psychosomatic!

Have been seeing and osteopath for 6 years as I had symphysis pubic dysfunction with my youngest daughter, then sprained my spine because of it and discovered I had scoliosis - I had complained about back pain for years and begged for help the scan only showed a buldging disc and some cervical spondylossis - I was told I was quite young to have it but it was probably not the cause of my pain and that my pain centre was highly sensitive and was getting jammed on - they put me on amyltriptalene - not for long it was awful stuff, I couldn't function on it! I have a history of 4 miscarriages and bled at 4 months with my middle daughter. My first miscarriage I hemmoridged and lost half my blood and nearly died.

Anyway, so here I am still, 21 years later only this has changed and it sucks, with all the best will in the world I cannot plan anything anymore, despite being a positive person and a mum of 3 beautiful girls. I had hoped the meds would really help and they have mostly, they have reduced my pain, fatigue is helped with the planquenil but my 41 year old body feels a lot older than its years and my mind is stubborn and fighting - but I cannot find a balance yet. A lot of us have families - mine is the centre of my world, just keeping up with there school commitments and staying on top of the home has sent me into a rapid decline for 4 weeks!!

Anyway, enough of the long moan. If there is anyone out there who has similar story is maybe a seronegative case or can look at this and say yep that's similar to me, I would greatly appreciated your input. I do believe my spinal problems are connected or is affected because of whats wrong and believe they are trying to get the right balance of meds for me!

It's a real tricky one because no 1 can really understand unless you are in the same boat.

I wish you all love and light. Xxx

[MaryF]

Hi there in view of the clues you give, your doctor is right to go after Lupus diagnosis, but also needs to look into Hughes Syndrome - Livedo Reticularis is a marker in this, so are frequent miscarriages; Mary F

[MaryF in reply to MaryF]

Ps some have both, I do, as does my daughter! x

[Jo883 in reply to MaryF]

Mary F Many thanks for taking the time to reply, I feel like I'm getting closer but still do not have a definitive diagnosis, I have had thorough blood work done, but wonder if they should at least re-scan my spine as it has been at least 15 years since the last one, the swelling that I have in my neck is affecting my arms which r weak and feel shaky, rhuemy says I have Carpel tunnel which is causing pins and needles. I will have a look into Hughes syndrome as not familiar with it. The negative blood work throws me. I also want to know for the sake of my children as my middle daughter has some joint pain. I believe after reading a lot of these posts that many sufferers have struggled in obtaining the right help/diagnosis with hypochondria being thrown in for good measure, which is wrong - I have a phobia of Drs because of this but I also believe in myself! The battle continues....

Once again - I thank you for taking the time to reply. God bless xxx

[MaryF in reply to Jo883]

Join the club, and also if you have autoimmune things you need to investigate your thyroid also... the disease of Hughes Syndrome, Sjogrens and Thyroid often goes together as a trio, and some people have Lupus as well, I am one of those, plus psoriatic arthropathy also. I will send you a film by private message: Mary F x

[Jo883]

Just had a quick look at Hughes syndrome, I believe I was tested for anti phospholipid and it was negative!! Along with pretty much everything else, and yet my life is spiralling into ever decreasing circles, who would self inflict or make this stuff up?!?. How if you don't mind me asking, did they manage to untangle yr health conditions? I seem to have more questions then answers. I get that seronegative can turn positive, but I do worry about how much worse it can get - I'm not sure I really want the answer either!! Prefer the one day at a time kinda thing!! Xxx gentle hugs xx

[MaryF in reply to Jo883]

I did it all myself and also went to London Bridge privately to see Professor Hughes. You need to be aware there is seronegative Hughes Syndrome - I am one of those and despite obvious lupus SLE, have only at the age of 47 passed a test... having had symptoms since a child! ard.bmj.com/content/62/12/1...

Mary F x

[mistytef in reply to MaryF]

Dear Mary,

I have also been struggling for 20 years with my diagnoses of SLE and Antiphospholipid Syndrome, as I only had positive blood tests for ANA twice 20 years ago and for Antiphospholipid once or twice 15 years ago after the birth of my son and none since, despite sometimes testing when the diseases were flaring severely.

After my positive ANA at Kingston Hospital I was referred to St.. Thomas, but after moving to South Oxfordshire I also ended up seeing Dr Hughes privately after being told by a Bath rheumatologist that I didn't have SLE after all and he persuaded my then GP to take me off my Prednisolone and Hydroxychloroquin. He then referred me back to Dr Khamashta and I've been with him ever since, where my current sero-negative status is of no issue. He's absolutely amazing and I know I'm in the best hands possible.

But when I have to see other specialists I sometimes still get the "we don't think you really have SLE" treatment. The most surprising being an eminent obstetrician at St. Thomas' who has and still does work with the doctors in the Lupus Unit as she specialises in high-risk pregnancies. She also tried to persuade me to reduce my Prednisolone drastically. I thought at the time for the baby's sake, but later reading her GP letter, I realised that it was because she doesn't believe in sero-negative SLE, most doctors don't except the most experienced specialists.

I was particularly interested in the article you attached. Do you have any links to articles on sero-negative SLE?

Thanks and regards,

Thérèse F xxx

[MaryF in reply to mistytef]

Hi there, lucky you, you are already in the right zone, having seen Professor Hughes privately, I do this, and am also under St Thomas', you need to do some real team work with Professor Khamashata as letters written by him, will help with your treatment by other professionals. I think this site i more likely to know about seronegative Lupus, but you could start with this: These two professor are second to none with both conditions, and you need to write to them jointly, detailing your concerns, etc and where you are being treated, re other medical teams.! qjmed.oxfordjournals.org/co...

ncbi.nlm.nih.gov/pubmed/161...

Best wishes. Mary F x

[MaryF in reply to Jo883]

and you could push your GP to refer you to St Thomas to see Professor Munther Khamashta... he also works privately with Professor Hughes at London Bridge! Mx

[Jo883 in reply to MaryF]

OMG! I didn't know there was such a thing as sero negative Hughes syndrome! I also thought it was very rare to have seronegative SLE, so despite knowing something is very wrong still doubted this could be me! I have learned more today from you. My rheumy has not explained seronegativity to me, I think they like to hedge there bets - he waited to see if the prednisone would help before deciding if it was a connective tissue disease or a functional disorder!! The trouble is, yes the meds help but not enough to feel any freedom and I don't want to up the prednisone - my osteopath was a star - he said to me that I presented like an autoimmune illness and said SLE and vasculitis after seeing him regularly for 6 years he knew me better then anyone. But i doubted it because of negative blood. May I enquired as to how your daughter is? I think the fact I could pass this on to my children is probably one of my biggest fears. My daughters are 16 14 and 5, my youngest keeps asking when I will be better! Xxxx thank you for all your info and your time - I shall book in to see my rheumy and take my husband with me then maybe we can squeeze some answers out of him. I have been reading a lot of sites, it has taken me over a year to sign up and I'm so glad I have! xxxxx

[MaryF in reply to Jo883]

You will not necessarily have passed it on to your children, we are unlucky and have a pattern of inheritance! Most rheumatologists will dispute seronegativity, - I suggest you give them the paper on the subject, by Professor Hughes and Professor Khamashta. Once I sorted my care out under London Bridge it made my NHS care improve. Best of luck, Mary F

[Purpletop]

You don't say how long you have been on the steroids and Plaquenil - you do know they take time to calm the lupus, right? About 6 months if the last flare was serious and you have had no treatment before, so don't get discouraged just yet. Both vasculitis and lupus work with steroids, only vasculitis needs to be hit by much bigger doses and an immunosuppressant added as well, so you might want to discuss your treatment plan wit your specialist if ou don't see a marked improvement after 4 months of treatment.

The thing with the blood tests is that there is far too much focus on them showing one thing or another. The medical research to date is still struggling to come up with a more sensitive test for lupus, as the current ones are not sufficiently granular to indicate disease activity. So no one really knows until it is really advanced anyway, in which case, regardless of label, the doctor starts prescribing steroids etc.

Try to remember that even if you would have a clearer diagnosis, no one yet is able to predict how critical your version of that illness will get, how quickly you will get worse, or whether you basically stay at a mild level for ever as long as you are on the right medication. I know that might sound depressing but actually it is giving hope, that maybe things will not be that bad for you.

As for APS, I have been tested 3 times in the past year and it was negative. The Lupus specialist at London Bridge said he won't check it again but I probably will do it again in about another year, in case. You need to look at the rest of the indications for this syndrome to get a feel for how likely it is to have it, rather than think you do have it and worry yourself sick. The Hughes website has a list of likely symptoms against which you could assess your current situation.

I'm glad you're starting to feel a bit better. If you trust your osteo's assessment about vasculitis, do mention it to your other specialist because your current treatment is insufficient to calm it down.

I hope all goes well. Take care.

[Jo883 in reply to Purpletop]

Hiya Purpletop. Many thanks for taking the time to reply.

I had my first steriod jab before Christmas I believe it was 120mg shot, by day 3 I was smiling again - I couldnt believe the difference it made. Christmas, However, is a busy time for all us mums and I had so much to catch up on that I think I overdid things, It carried me through Christmas, just. By January I'd seen the Rheumy again and he put me on a two week course of 7.5mg Prednisone and said after two weeks I must stop. Within 2 days of stopping I started to flare so I went back to see him he added Planquinel and asked me to try 5mg continual dose of pred to see if I could maintain flares, but prescribed 7.5g in case it didnt. He did explain the Planquinel would take minimum of 3 months to work and that I should be careful. I found I couldn't keep the flares under control at 5mg so went back again and I'm now on 7.5mg pred and he upped my Planquinel to 2x to see if I could reduce the steriods back to 5mg. I did have a 3 week period where I had a lot of commitments with my children - the things you dont want to miss, like parents evenings and award evenings. This caused my most recent flare and it has taken 4 weeks to start finding my feet. My rheumy said that if I know I'm going to have a busy period I can increase the steriods to 10mg and the drop back to 7.5g. Thats the long answer!! So basically been on steriods since December 2012, started 1 x planquinel in January which I have been on for 2.5 months and have only been taking 2 x planquenil for 2 weeks! I realise its early days and I know the planquinel takes 6 months and that I have to be patient. Its hard sometimes. I'm certainly not as educated on the subject as you guys are. I think over the years you learn to wear blinkers, grow thick skin and try harder. I have been going privately because I had to wait 6 months for NHS appointment, I didnt get any answers, my bloods were negative, I was told to come back in a year and if there was no change I'd be dismissed. My family had watched my health decline and said enough was enough. From what I can work out you guys are seeing London based specialists which may be the way to go from here, at the time and even now I would find it a struggle to get to London. But maybe when I have found my equilibrium it maybe the way forward. As for the Lupus v APS or both - I have been in a situation of being fobbed off for so long that I'm still piecing it together! It would explain a lot of my past history. I think the scariest part was loosing my peripheral vision in both eyes, the speech problems have been on-going on and off for as long as long as I can remember -lately they have become more frequent, I was tested for MS when I was younger which was negative. The facial ptosis that I have had on and off for as long as I can remember has finally been given a name! Myasthenia Gravis also negative. When the right side of my face drops with the numb top jaw, the wrong words come out of my mouth when I know what Im trying to say, change in pitch and tone and it becomes labour intensive to talk. I actually I had a spell where I couldnt remember my passcodes for things like my bank which freaked me out because I just couldnt remember them, so I guess its the central nervous system involvement I'm most concerned about, because when my face drops and my speech goes its normally cos I'm having a full blown flare. Im sorry for the long windedness of this, I feel a sense of relief getting it off my chest. I have learnt so much already. xxx

[brave]

I hear you calling tired lady ;((((((if i had the strength to type my history it would comfort you ,its a VERY similar picture ,i will find the strength to type soon ,i wish you well brave

[Jo883 in reply to brave]

Hey brave - that's a great name! I am new and just been reading some of your posts and yes I can see that there are similarity's - I too have felt a drastic change - at times it has felt like I can no longer keep my head above water! I normally give myself a telling off at that point and I pray - I'm not particularly religious - but I ask my Dad for help. I loose interest in everything, I understand about the difficulty in writing and even reading, I can't seem to follow anything - I even have to concentrate when someone is talking to me because its like I just can't follow the conversation! I can't even hold a book up to read - I think those times are particularly hard and dark. Today I'm functional - but haven't been very productive!! I'm psyching myself up to take my 5 year to swimming lessons!! Today is okaish - I feel for you as I went a year without meds and the pain and fatigue were intense xxx sending love and light xxx

[brave in reply to Jo883]

More awake now lol!lots of food and cups of tea ;)I was diagnosed at 21 yrs with M.E after a year of terrible heath issues ,with no anwers ,then i managed to live the next 9yrs with symptoms managde with pain meds and dealt with the flares that were very intermitent .I was extremly poorly early in the 10th year of suuffering with swollen lymph nodes everywhere ,rashes ,bladder probs ,heart probs ,overwhelming exhaustion (yet couldnt sleep)neurological symptoms ,very frightening ,m.r.i was normal at the time,sent home signed off work with epstain barr virus and post glandular fever ,lots of rest and i started to improve ,got pregnant and a particular antibody was picked up in my blood ,this should have sent alarm bells ringing ,but i was told i would be monitord all the way through pregnancy and a section if i was in trouble ,pregnancy was tough ,i thought it was normal to feel this way ,but looking back it wasnt ,labor was very long and taxing and i never really recoverd well ,as you know we just accept being a mum is exhausting ,so i jsut got used to feeling unwell ,but then after a few years i improved ,not fully but a whole lot better ,got really fit and was running like a mad woman ,so proud that i had got this far ,still dealing with flares as and when but they were small as i avoided most things to trigger them,then two years ago things started to go down hill ,everything returned tenfold and more ,i had inflamatory markers ,and a positive spekled A.N.A so i was sent to a rheumy who diagnosed ,sjogrens,fibromyalgia ,and some kind of connective tissue disease.Sent away with little info and meds,well ive got worse and worse and last june was told of lupus .I tried hydroxy ,but was so unwell and turned yellow ,so now im kinda left with the advice to just take my pain meds and pace myself ,i feel my consultant is to laid back .Im in a terrible way and like you i cant even manage my daughters swim lessons today ,because yesterday i forced myself to go for a walk on the beach and have ice cream with her as i should be able to and cooked a nice roast dinner ,today i cant move hardly ,its a joke ;((((where does this leave us folk in this tortured world?I havent slept in years as i have chronic insomnia and feel totally isolated from everyone else.LOL!you thought you were having a moan ???im 39yrs trapped in a90yr old body ,i wish you well keep posting its nice to read ,take care brave.

[Jo883]

I hear you brave! Similarity's are there, I also had intermittent flares over the years I put it down to spinal pain and thought pinched nerves and neck problems caused the speech problems and brain fog. My osteo has straightened me out so spine is ok and anatomically I'm straight, I used to always keep on the move because I found I my spine hurt less then when sitting and I would struggle getting up. Osteo said that I was definitely presenting like autoimmune and mentioned Lupus straight away, he even hugged me as he's seen me through the worst of it. I haven't been since November because I had a flare after my manipulation and was laid flat for 2 days and the flares are horrible and scare me a bit. The only time I've had what looked like a Malar rash was when I sprained my spine the next day I woke up and there it was. The osteo saw it and said it was my body reacting to extreme stress. It's the only one I've had. I asked my rheumy if there was any correlation to the ME and this and he said no! I too used to be a runner, I loved sport - today the closest I get to sport these days is getting myself up ready!! I also love to cook - I always have and I love to make cakes and desserts too - but I'm wearing splints and have a job lifting the saucepans and yes I find it tiring, so do some bigger dinners and some easier dinners - but yr right there should be more to life then just about staying on top or always catching up - I think it's sensible to take yr moments when you can have them, I would imagine both you and yr daughter had a lot more enjoyment having an ice cream and a walk on the beach, plus a nice dinner, then 1 swimming lesson - but us mums r great at feeling guilty! I'm accepting finally that my goal posts keep moving, but I don't like it - when your exhausted and in pain it's like a house of cards falling down - so much harder to take care of yourself and keep that fight going. I've tried many thing over the years from cognitive therapy to acupuncture - I'm now hoping on a wing and a prayer that I will feel the full benefits of these meds in the next 3 months, because for now its an existence and I have a lot more to give and a whole lot more I'd like to do. Meanwhile, I do check from time to time to see if I have any signs of unwanted facial hair and also what colour my face is - if I sign off from the grinch the next time you know it's meds side affects - I wonder what I would choose though - green hairy face or debilitating pain and one long flare?! May I never have to make that decision!! xxx

[roobarb]

Hi Jo

I too have many of the same symptoms as you. I am 45, but my husband & I joke that in lupus years I am 145!

The fact that the meds you are on have worked a bit is a good sign that your rheumy is on the right lines. When are you back for your next appointment? If it's a while, have you got an advice line you can ring. Or see your GP & ask if it can be brought forward. I know it's hard to be proactive when you are so poorly & house bound, but a tweek or change of med could make a difference.

Hold on to your hope that things will get better. It just takes time, & like me, it sounds as if you ain't going no where fast! So sit tight & believe in better days.

We are here for you. But even better, get in touch with your local lupus UK support group. Many groups have facebook pages, so you don't necessarily have to attend meetings to get to know fellow lupies in your area.

My thoughts are with you. X

[Jo883]

Hiya roobarb - thank you for taking the time to post, I'm not sure how I feel today, a mixed bag of emotions, mainly because I still feel partially like an unknown entity, I have Been hovering almost unsure where to post because I have neg blood. The fact that so many of you have taken time to reply has given me comfort, I had a little tear today because it has almost been like a release to be able to speak to like minded people and i could kick myself for not doing it sooner! it is very difficult to speak to well people about how you feel and any of your concerns or worries. The more I read other Lupies' symptoms the more I think that's so similar to me, but I don't want to talk myself into anything either!! My Rheumy said if I need to see him I can make an app anytime as I'm currently private but I'm linking back into the NHS in June - apparently the Dr I will be seeing is a Lupus specialist - but the change in itself is unsettling because as a lot of you seem to say not a lot of Drs believe in sero neg Lupus!! I have copies of all my note to take with me and have to have a fresh set of bloods done 2 weeks prior to app my current Dr knows who I'm seeing and I have already told him Im slightly worried having got this far, to be dismissed in any shape or form! Even the word 'Dr' makes me feel uptight. I tend not to go to the GP at all if I can help it unless I have new or scary symptoms.

I'm not sure yet about what to expect at all, how much should the meds reduce the flares etc - I'm better then I was but I have to pace, I need a rest in the day and still have some pain but haven't done the full 6 months on the planquenil yet! And have just come out of a flare from overdoing it. Since taking the 2nd planquinel I can make it through to the evening although its made me more mentally alert and its slightly harder to switch off to sleep - but a big improvement on barely making it till dinner!

Thank you once again for your support xxx I should re-name myself the 'novice' love and well wishes xxx