Struggling to get a lupus diagnosis ?: My wife... - LUPUS UK

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Struggling to get a lupus diagnosis ?

jimbo1605
jimbo1605
83 Replies

My wife received her diagnosis in December last year after many years of illness and searching for a diagnosis and treatment. Things are just stabilising now and thought we would share our experiences and tips to help all those who are still in the battle.

1. Stay away from doctors who dont understand or even some who dont believe in lupus. They can do you much harm and at the very best frustrate and delay treatment.

We once had a senior consultant in all sincerity say that the treatment for auto immune conditions is to increase anti depressants. Unfortunately in our experience there are a lot of them about.

2. Go to a lupus specialist even if you have to travel - its worth it. This is all they do so they will look past negative ANA / dsdna to look at you and all of the tests and all of the symptoms.

3. Dont give up. Sometimes it feels like the world is against you. Persist and you will get there.

4. Do your research. Have a view on what you have and why it will give the doctors something to disprove.

5. Try and bring family and friends with you - they can be great support

6. This forum and the people who post on it are brilliant. If you got it then the chances are someone has had it before and knows how to deal with it. So post your problem / question and you will discover you had a hidden army on your side and with you.

If you cant post search previous posts - they nearly always turn up gold.

and lastly just to thank all from pooh bear (the wife) and me for all your advice, help and support for all who have posted in response to my problems and questions. You have helped us both so much.

83 Replies
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Barnclown

WOW: GRRRREAT POST jimbo! THANKS for this HAPPY news + wise experienced advice! CONGRATS to Pooh Bear, you & your medics! You’ve Made My Day! Hope you’ll keep us posted on how things go! Wishing you every best wish

🍀🍀🍀🍀 Coco

PS hope your son is coming along “ok”

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Foggyme

Hi Jimbo1605. Just to say thank you for your fantastic post. Heart warming and encouraging, and very useful tips for me (still struggling and fighting to get appropriate treatment, despite having a diagnosed autoimmune condition (UCTD)).

It's really good to hear that Pooh bear is stabilising and that all your hard work and effort is paying off 😉.

You've really given me hope that continuing the fight can have a good outcome...so thank you and continued good health to you both xx

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Lupiknits

Thank you so much for your advice and hints for how to manage our way through this horrible illness. Thanks too to pooh bear x

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eekt

Hi jimbo1605! This is incredibly sound advice in a nutshell - especially about doctors than can do harm - and I wonder if our hero Paul_Howard can maybe pin your post for a fabulous 1-6 on the way to go? This forum is indeed a godsend! Fingers crossed Pooh Bear reaches a stable situation soon xxx

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Paul_Howard
Paul_HowardAdministrator
in reply to eekt

Nice idea eekt. I will pin the post :)

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jimbo1605
jimbo1605
in reply to eekt

Can I thank eekt and all those who have replied and liked the post and I didnt quite anticipate it receiving such a response.

Pooh bear (the wife) has been blessed with the care of many good doctors and nurses but unfortunately we had to fight our way past obstructive and unhelpful medics who should have known better. She has gone from bed bound to nearly functioning normally over the space of 18 months. The only remaining issue is a stubborn breathlessness problem which means she cannot get below 3 prednisolone per day without her heart rate racing and her o2 sats falling. The current thinking it is a blood rather than lung issue.

Pooh bear was named by my family (mainly me really) because of her kind nature, positive outlook and all of the symptoms of lupus brain fog (forgetfulness, away with the birds etc). At the time we didnt know pooh had lupus so it seems a bit cruel now with hindsight. However, since being prescribed blood thinners pooh has suddenly become super sharp, remembers everything (not always a good attribute). So we have lost our Pooh or Pooh has lost a certain Poohness. We have decided the name will stick even if she is a Pooh on steroids (literally).

Thank you all for your kind words, thoughts and help.

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Lisalou19
Lisalou19
in reply to jimbo1605

This smells like team spirit 😎 your both so lucky to have each other x

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puffyface

Thank you for posting this. I am currently on a Sjögrens/lupus overlap diagnosis that nobody is taking very seriously and I feel rubbish!! Your message has made me 😊

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eekt
eekt
in reply to puffyface

🙂 Your name has made me smile...hoping you're getting somewhere in the diagnostic odyssey...keep posting and let us know xxx

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Lisalou19

Such a lovely post to read . Thank you for writing this. So many relevant pointers .

X

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Freckle1000

Well done Jimbo 🙂

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Patricia2015

This is one of the best posts I have ever read on this wonderful forum. Thank you!

I totally agree with everything you say about about a hidden army on your side and with you on this forum.

Wish your wife the best from me. She is lucky you are her warrior. You are a wonderful husband.

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Foggyme

Jimbo1605. Just a little update for you...

I read your original post when I was in quite a dark place, having had a particularly bad appointment with my then rheumatologist.

Your post and the people in this forum, together with support from LupusUK, gave me the strength and determination to not be beaten and to carry on searching for a rheumatologist who understood autoimmune disease. So...

I have recently been seen by Prof C Gordon at the Lupus Centre of Excellence in Birmingham, who has diagnosed me with Lupus and put in place an appropriate treatment plan, together with arrangements for ongoing care.

It's taken thirty years and another four of trawling round endless 'ologies' (including other rheumatologists) to finally get the right diagnosis and the prospect of starting to become well again (even if not as before, any additional functionality is bonus).

To any who reads Jimbo1065's advice...it's brilliant advice...follow it, be determined, be strong, and don't give up.

With love to yourself and Pooh bear and thanks for dropping your wee words into the forum...just when this person needed them most.

🥰 xx

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Lisalou19
Lisalou19
in reply to Foggyme

Just see your comment pop up on my feed and felt I needed to say “well done for keep fighting and pushing through “

I hope in a strange way you are feeling relieved. Time to process this and push forward to make your quality of life much better xxx

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Foggyme
Foggyme
in reply to Lisalou19

Thanks Lisalou19. Really appreciate your comments. Going to post in main forum so that I can update and thank all who've helped me to get here.

And yes, I'm relieved...very relieved. It's not so much of a surprise 'cause I've always know that I 'fitted' the disgnostic criteria...but still a little odd to have this confirmed. Processing 🤔😉😀.

It's been a long haul with some very unpleasant rheumy's along the way.

At least now I have a more appropriate treatment plan and can start to focus on getting a better quality of life.

Can't tell you have very excellent she was...just wish the level of expertise, care, and understand I received from her was available to all with autoimmune disease. Shocking that it's not 🤷‍♀️🤦‍♀️🤬.

Xx

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jimbo1605
jimbo1605
in reply to Foggyme

Foggyme. Thank you so much for the update both Pooh Bear and I were so pleased that our mistakes (and there were many of them) and the things that worked have been of some value. I am delighted you are now on the way to a happier place and I sincerely wish you well.

I think one of the things we found most difficult was the not knowing what is wrong and being told by senior medical professionals that there is nothing wrong. Pooh Bear on many occasions thought she was imagining everything and was collapsing into a black hole of insanity, fatigue and pain. The diagnosis made all the difference both to the physical symptoms and to mental wellbeing. Pooh Bear is back to enjoying life now and this we wish for all who are going through this turmoil.

The true Hero's of this the many regular contributors to this forum who give their time, experiences and knowledge so freely and so well. Without them my Pooh bear wouldnt be skipping through the fields, throwing sticks into the stream and devouring loads of honey (the honey thing is true the rest poetic licence)

My very best wishes to you Foggyme and thanks for the post

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Wendy39

What a great post! So much good information and advice. Looking back on my rollercoaster ride since wrongly diagnosed with SCLE in October 2013, I wish I had gone straight to the London Bridge Lupus Centre. I finally got the right diagnosis there in April 2017. Hindsight is a wonderful thing. I say to anyone who asks, don’t waste any more time with other doctors and go straight there. Thank you for your post and best wishes to you and your wife. x

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Mimma

Brilliant - so pleased it all worked out. Thanks for the great advice.

I’m still waiting for my rheumatology appointment - scheduled for 30 May - first available one !!!

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Hidden
Hidden

Your words offer hope and support and I wish you and wife well 🙌🏻

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Hidden
Hidden

Hi

I am just about to give up having been totally disregarded by rheumatology but worsened a lot in last year and have a years worth of photos and diaries only they do not want to look at. It could be lupus or some other connective tissue disease but my question is as I don’t know what it is how do I know what specialist to look for. I’m not coping so well now and have wasted a year on rheumatologist who blatantly ignore clinical presentation.

Thankyou

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jimbo1605
jimbo1605
in reply to Hidden

Stiff19, Sorry I read your earlier post just now but after my reply. Having now read your posts why not consider another tack.

Write down the top 2-3 symptoms that most impact on your daily life and document how what where when of each of them along with what would make life easier for each of them.

Do as much digging into each of them and what will make things better - meds, diet etc

Go to GP ask them to treat each - if they cant then ask for referral in that area

If you focus on the symptoms with a specialist in that particular area you might have more success - pick them off one by one and let someone join up the dots later.

You have some great replies and suggestions from others who are excellent and supportive as ever.

Please let us know how you get on

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Hidden
Hidden
in reply to jimbo1605

Thankyou jimbo, that is sound advice and I had given this some thought and may try to put into practice later .

Will do

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jimbo1605

Hi Stiff19 and thanks for making contact.

At the outset I would mention I am not a medic and just have the experience along with my wife of dealing with the system which makes it so difficult for people like yourself. My suggestions to think about are :

Lupus specialists are invariably Rheumatologists who spend most if not all of their time dealing with auto immune illnesses. The more you get to know about these illnesses you more you realise how little we do know and how subjective the assessments of what illness you have and how to treat it. Doctors mostly dont do subjective subjects very well its not in the training and for most to admit i dont know demonstrates weakness. This situation is compounded by the lack of time allocated to each consult so anything that is not standard cannot be dealt with in the time.

So based upon our experience and indeed that of many others you are more likely to get to a conclusion by someone who has a detailed knowledge of the subject and who is more comfortable dealing with the ambiguity that these illnesses so often present.

I suggest a good starting point is the lupus centres of excellence published on lupus uk. Ask the forum for any suggestions of consultants in your area who deal with the sort issues you face. Have an idea of what it could be - at least there is a starting point for the specialist. The forum here is great for linking symptoms to what it could be.

It may seem a struggle now but you will get there. Use the knowledge and support of this forum and it will help you and you will realise there are many people like you and the vast majority have a diagnosis and treatment.

My thoughts and best wishes.

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Hidden
Hidden

Thankyou for replying I appreciate it I will gather myself and start again. Only problem is I don’t know what it could be anymore as so many things have similar symptoms, and when you have more than one problem it seems like nit picking but I can’t help that all the things happen at once. Very frustrating . Yes I see on this forum I am not alone at least and I will use the knowledge later that comes my way and Thankyou for sharing yours 🙏

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jimbo1605

my wife and I about two years ok had a 40 minute session with a consultant in which he read out each of the blood test results and after each one pronounced NORMAL this went on for over 100 results. So we have gone from this to a point we pretty much know all the sources of her problems some of which are SLE and some not. You can do it - stay in touch.

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Mitsy11

Hi jimbo

I’m new to this so please bare with me ,I have been struggling to get a diagnosis for a few years now my mum has systemic Lupus so I know what it is and I know how it affects you , I have all the symptoms only it does not show in my blood , instead they have diagnosed me with fibromyalgia I’m not convinced , I wish they would look at my mums notes and they would be able to see the same pattern severe dizziness fatigue, mouth ulcers aching joints blurred vision at times tingling in hands and feet , I’m at my wits end because I never feel well I feel poorly all the time I get out of breath easily I have difficulty swallowing , and the heat makes me feel so much worse , I just can’t seem to make anyone listen to me ?

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jimbo1605
jimbo1605
in reply to Mitsy11

Hi Mitsy11, I would at the outset say I am not a medic although I can share with you our experiences and my wife who has SLE.

The two things that SLE diagnosis provides from the NHS is drugs to dull/ modify the immune system and a regular follow up - both have made a massive difference to my wife.

We have a Rheumy who swears my wife has fibro even though she doesnt have any of the main symptoms and sensitive points and that she cant have Lupus even though she fulfills all the criterion by a country mile and was diagnosed my a lupus specialist.

I suggest a two pronged attack 1. deal with the symptoms with GP one by one and get tested and medicated. There are drugs that will help with everything you mentioned depending on cause.

2. Try and get referred to a lupus specialist rather than a general rheumy

a few extra thoughts...

Have you been tested for complement c3 and c4 ? they can reveal a lot

Have you been tested for Immuno globins Ig Classes and igg sub classes ?

Are you anaemic a lot of luppies are - worth a test

Good luck and let us know how you get on

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Lmr83

Reading this mirrors me at the moment eight months have been particularly ill (but in reality I’ve never been right since my sons birth 8 yrs ago) I’ve had fatigue, irregular heartbeat, tachycardia and bradycardia , fainting, dizzy spells, breathlessness, sweats, i have swollen lumps on my body which the dr thinks is tissue inflammation and I get dead arms and numb hands/feet. My right hand is all inflamed. I’ve had all sorts of tests done I did explain my mums autoimmune and has psoriatic arthritis but the doctor didn’t really seem bothered one dr at the hospital told me it wasn’t hereditary! two weeks ago I had tests done And tested positive on the ANA screen and also with raised ESR and CRP markers But struggling to get a diagnosis I also have trouble with my arm is going dead and numb The doctors referred me for a nerve conduction test and further blood test’s I’ve had all sorts of tests on my heart as I’ve developed a heart murmur I’m getting so fed up now of constantly being referred for tests but not getting anywhere have now also been referred to Respiratory specialist due to my breathlessness Once all these tests are done i will then be referred to rheumatology and hope to find a diagnosis!

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jimbo1605
jimbo1605
in reply to Lmr83

Hi Lmr83,

I am really sorry to hear about your situation but I can assure you there are many people in exactly the same position who are searching for answers.

In our experience you are more likely to get an answer quickly, particularly if its non standard (which more auto immune diseases are) from a consultant rheumy who has a speciality in Lupus or other other auto immune diseases. These individuals are in the NHS but also at a number of private practices around the country.

Even if you did have a diagnosis you will still be cross referred to other disciplines (nepr, cardio etc) and these are essential to get a full insight into how to disease has progressed and what the prognosis and treatment would be.

Its a long road but hopefully you will progress and get better along the way. Focus on help to get a good night's sleep and get you out of pain as the priority and then go with the flow and you will get there.

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CecilyParsley

Hi Sally, firstly I must say that I am so sorry you have developed these ulcers. They are one of the things that will reduce me to tears. Over the years I have tried so many things, most of them unsuccessful. The only thing that helps me is a syringe of local anaesthetic Instillagel. Mine last anything from 5-7 days. Have you had a biopsy to rule out anything else? My Rheumatologist says I probably have Bechets. When I first had them in 1992, my GP diagnosed Herpes but a biopsy was negative. I hope you get some relief from them xx

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Hidden
Hidden

Lupus test results from various sources:

hopkinslupus.org/lupus-test...

mayoclinic.org/diseases-con...

lupus.org/resources/lab-tes...

Note they are for lupus and not specifically for RA.

Unfortunately diagnosis info for lupus is not given in detail by Lupus UK:

lupusuk.org.uk/diagnosis/

Regards,

Alexa321

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Mom2Danni

9 years and counting and my daughter is 15 now. Still no diagnosis. abnormal kidney function, inflammation in the thyroid and tummy. Lupus specialist says the inflammation is not a sign of pathology. Upsetting and tiring. Who is happy to diagnose ANA negative Ds DNA negative lupus? Can you message me privately and provide a name or send a message on this chat stream please?

Noelene

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Melba1
Melba1
in reply to Mom2Danni

So sorry your daughter is so poorly and it’s a battle to get answers.

Prof D’Cruz at Guys (also at London lupus clinic but not sure they do children) is excellent and will look fully at symptoms and listen properly - and happy to diagnose without ANA/ dsDNA if the rest fits.

It might not be lupus but it’s clearly something she needs a diagnosis and treatment for so he’d be a very good one to advise.

Sorry, so tough as a mum. My son had a rare neurological disease and it was the worst darkest time of my life trying to get answers and treatment but once we found the right doctor with experience of his disease it was such a relief. Fingers crossed you get answers soon, so hard to see our children suffer ☹️

Love to you both x

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Mom2Danni
Mom2Danni
in reply to Melba1

Thank you. I will contact him. If it's not lupus they need to say what is causing the inflammation in the thyroid and antibodies, tummy inflammation and damage to the kidneys, hair loss, dysphagia and damage to muscles. The list goes on. They say there is no underlying illness! I am in that dark place at the moment. Horrible. No diagnosis, means no treatment and I am worried about her kidneys. She is 16 soon and I will ask them if they will see her. Thanks for your kind words.

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jimbo1605
jimbo1605
in reply to Mom2Danni

I can only echo Melba1's excellent reply and the D'Cruz operates from the london bridge hospital under the banner of London lupus centre and at Guys at the louise coote unit are well worth considering.

The criterion used by medics to diagnose Lupus of CTD include a whole range of abnormal blood results not just ANA or DSDNA and all are predominately symptom related. (these are well worth a look). However, most of the medical profession seem to be obsessed with ANA which when you looks into it is such an unreliable measure of anything. The good news is there are those who will look beyond ANA.

The expertise on the blog has always amazed me and if I may suggest if you could advise a more details of her symptoms and unusual small things as well. It is these small things that can quite often differentiate one disease from another even though they may seem not of consequence and no real problem.

Also if you are willing to give some details of bloods (FBC, ESR, CRP, RF, C3, C4, Immunoglobins to sub class and given the kidney problems egfr, protein and albumin readings. I am sure others will give comments to point to what it could be.

The other approach which I would do as well as D'Cruz or the like is to get a referral to a specialist in the area where the most concerning problem is. So for example a nephrologist could investigate kidney problems which may lead to a diagnosis which covers all the issues.

I am sure you will get many replies and the more information you provide the more helpful to you these will be. Please stay in touch with the forum and lets us know what happens - you will get there and I am sure the contributors to this forum will speed that process.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi Jimbo

Other abnormal tests so far are thyroid antibodies, thyroid function abnormal - inflammation, very low lactate dehydrogenase (which leads to acute muscle break down), inflammation in tummy, anaemic, low white blood count. They will redo ANCA, AC, CK, CRP, C3 C4 CH50 next week. I am familiar with the 11 symptoms of lupus of which you need 4 to be diagnosed and bloods aren't a pre-requisite. She has had 7 of these symptoms over the years and many remain, some come and go. Speaking to my GP tomorrow again. Grateful for your helpful comments

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KayHimm
KayHimm
in reply to Mom2Danni

I know it is so hard to see your daughter suffer and have no answers. Do the doctors say what is causing the inflammation in her stomach? Do they see the low white count as significant? They do not usually need a diagnosis specifically of lupus to start treatment if they know it is autoimmune in nature. How are they treating her GI issues and thryroiditis?

It really sounds like you are not getting clear explanations from the doctors. Generally, unless there is evidence of kidney disease, doctors now do not diagnose lupus unless laboratory and clinical criteria are met. But they can certainly diagnose another autoimmune disease or a non-specific or undifferentiated connective tissue disease.

You deserve answers.

K

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Mom2Danni
Mom2Danni
in reply to KayHimm

Hi Kay

They said there is absolutely not pathology / disease behind the chronic gastritis in her tummy or inflammation in the thyroid. This from a lupus centre of excellence. I'm not sure how that could be regarded as normal especially since all the women in my family have auto immune inflammatory illnesses (4 generations up). They diagnosed raynauds only and she is hypermobile. They said the low wbc is not low enough. It's the lowest yet. Infection and inflammation in the tummy was treated but it persists. Second round of "2 short term antibiotics and proton pump inhibitors". What do you mean by non specific or UCTD?

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KayHimm
KayHimm
in reply to Mom2Danni

Then it sounds like they do not think the stomach inflammation is autoimmune in nature. Lupus patients do get GI problems but maybe not the kind of inflammation the doctors saw with your daughter. Are they following her so that she can be treated if her thyroid function becomes low? Did they explain the significance of her thyroid antibodies?

Some patients have symptoms of an autoimmune disease but do not meet the classification criteria for any particular one. That is very common. Doctors may call this a lupus-like disease or an undifferentiated connective tissue disease. But there needs to be evidence of autoimmunity. I think what you are coming up against is that your daughter thus far does not show evidence of an autoimmune problem. But she is struggling.

I think the doctors have not done a good job of explaining their reasoning to you. If you have their summaries, we could maybe help you better.

K

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Mom2Danni
Mom2Danni
in reply to KayHimm

Hi. The endoscopy report said chronic gastritis in her tummy. She has had it for a very long time. She has upper oesophageal dysphagia too and they just said sooner or later she needs to go on thyroxin as it relates to the thyroid (no talk of stopping the inflammation). Seeing an endocrinologist soon without them. She has antibodies in her thyroid and they said this goes some way towards proving an auto immune disease but not far enough, hence more tests next week. She is ANA and Double stranded neg. I am going to ask the GP to admit her tomorrow into rheumatology as suggested by the private rheumatologist trying to help us. She said we should go to the lupus centre and they have come back with all this nonsense.

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KayHimm
KayHimm
in reply to Mom2Danni

It sounds like you have a rheumatologist who wants to explore further. It makes sense to see the thyroid antibodies as a tendency toward autoimmunity. My thyroiditis was looked at that way when I was young. And that is good they explained to you that she needs to be followed for low thyroid. Sometimes these diseases take a long time to evolve. Maybe more will show in her upcoming blood work.

I can hear your frustration. Hope you can move forward with a new doctor now.

K

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Mom2Danni
Mom2Danni
in reply to KayHimm

Hi

They said no follow up needed re the thyroid even though she has antibodies and an abnormal function (Alder Hey hospital - childrens lupus centre of excellence - Dr Cleary). I asked my GP to please refer privately to an Endocrinologist as this was not good enough. If she was on meds this could help with the inflammation? She is on no meds at present for anything. 9 years without a diagnosis and meds - damage? The antibodies show a tendency towards auto immunity but so does her Serum ACE which is sky high (more than double what it should be). Speaking to the GP again tomorrow about all of this. Dr Dr Cruz can only see her in the NHS due to her age - 15. I have a private rheumatologist but she says she needs support (so need to get new support). Hopefully we will get there soon.

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KayHimm
KayHimm
in reply to Mom2Danni

I understand why you are concerned about the thyroid tests. They actually do not treat autoimmune thyroid disease, called Hashimoto’s, with steroids. If the thyroid becomes low, they would supplement with the hormone needed. It is very common. If the Children’s hospital did not think she needed to see an endocrinologist, that is reassuring. Her GP can monitor her.

In response to her being harmed by not being on medication, I have read that although they want to diagnose lupus as fast as possible, it is still better to wait until there is certainty before starting medication because of the medication side effects. They have ways of assessing the involvement if they suspect inflammatory disease. They watch for inflammation in the organs and they run blood tests to see what is happening.

What did the doctor at the lupus center say about the kidney issue? If they saw any concern about her kidneys they would have sent her to a nephrologist whether it was lupus kidney disease or not, I think.

What does the private rheumatologist think may be causing her symptoms? Nine years is a long time for a child to be ill. It sounds like this has really taken a toll on her life.

K

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Mom2Danni
Mom2Danni
in reply to KayHimm

Okay I understand about the thyroid. They didn't explain this to me. They said nothing about the kidneys. I am moving on from Alder Hey to another centre of excellence I think with the support of our private rheumatologist. I will discuss the lactate dehydrogenase deficiency (rare disease) with the GP today. Muscle destruction.

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Mom2Danni
Mom2Danni
in reply to KayHimm

Sorry private rheumatologist said she cannot confirm or exclude lupus. I am going to ask about UCTD now.

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jimbo1605
jimbo1605
in reply to Mom2Danni

Have you considered UCLH they definitely deal with your daughter's age group and I believe LC at Guys do as well with Prof D'Cruz.

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jimbo1605

My wife also has erosive gastritis along with barretts oesophagus, anaemia, stomach bloating, breathing problems, fatigue, rashes etc. She has an empty sella, hypothyroidism etc. She has always had low C3 and unusually high C4.

Have they explained the anaemia and have they tested b12, iron and Erythropoietin to rule out other causes ?

Have they tested for other auto immune antibodies ?

Is she on any medication which could mask some of the results - for example prednisolone ?

Are your blood test comprehensive enough to consider other auto immune conditions and rule out other causes ? there are lists that have been provided on this forum previously.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi. Yes Dr D Cruz can only see her at Guys. I am waiting for his secretary to call me back. I went to Great Ormond street 9 years ago already. They said they think it s a mild auto immune inflammatory disease but retracted when her ANA came back negative. They stabilised her on anti- inflammatories and anti biotics (ever second day for 3 months) - Dr Paul Brogan. So the anti inflammatories work for something which is not an anti inflammatory disease? They could not provide an answer on that one. She is on no meds at all as she has no diagnosis. They are just treating the tummy infection and inflammation at the moment. She is having more tests done this week. 2 so far point to auto immunity and I am hoping we are nearly there (thyroid antibodies and abnormal function and very high Serum ACE). They are redoing ANCA, CK, C 3 C4 and CH 50, CRP and anti cardioplin. ANA was negative.I am going to speak to my GP tomorrow about UCTD in the absence of a lupus diagnosis. Where can I find those lists please?

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jimbo1605
jimbo1605
in reply to Mom2Danni

It might be more helpful if I tell you what tests Guys did on my wife initially if you intending to see D'Cruz and if your GP does this it give you a head start.

FBC

C3, C4

Bone profile

Creatine Kinase level

CRP / ESR

DRVVT

igG anticardiolipin anti

IgM anticard

fibrinogen

prothrombin time

APTT ratio

IgG anti beta 2 glyco anti

IgM anti beta glyco anti

Dilute APPT

ENA

ANA

Anti-tpo anti

Vit d

Creatine, protein ratio (urine)

Renal profile

Urea level

Liver profile

Immunoglobins G, A , M (G to sub class)

Glucose and hba1c

anti dsdna

RF

Hep2 ANA

I sure some of these will only be available at a specialist hospital like Guys and there are considerably more tests they will do once they establish direction of what it could be.

There are many auto immune conditions not just Lupus and there are many conditions that can look like auto immune conditions so hopefully Guys will help you find the answers.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi

Half have been done. I have just e-mailed them at the Louise Coote unit as no-one called me back. I will keep this list as a check list thanks. Will keep you posted

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jimbo1605
jimbo1605
in reply to Mom2Danni

What stops your daughter doing normal things at the moment ?

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Dysmotility in her oesophagus has led to breathing issues. She cannot exercise and use to be highly active. The Gastro will do manometry and hopefully botox for the muscles. Either she had inflammation in the oesophagus which they never picked up 2 years ago and it immobilised the muscles or its that lactate dehydrogenase deficiency which damages muscles or Ehlers, I don't know. I just had a huge fight with the GP. 9 years and counting. Said Danni just has to live like this. I will get our private rheumatologist to refer to Dr D'Cruz (if he can see her privately at Guys) or ask the private rheumatologist to ask the GP to refer to him on the NHS, then she has to. I'm exhausted.

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jimbo1605
jimbo1605
in reply to Mom2Danni

My son nearly died with Wolfe parkinson White when he was in his late teens and then his excess heart nerve were ablated. However shortly after he suddenly stopped functioning; couldnt get out of bed, couldnt think loads of neuro symptoms. Over the past 5 years I have battled with the medical community to get a diagnosis and treatment. We have just got there he has ME and also PoTs (which his mum has also). Seeking treatment now but during the past month we have made the breakthrough after years of struggling. You can never be accepting or rest if your child cannot live a normal happy life.

On reflection the lessons from this for us were :

1. There is so much that the medical community dont know. The doctors that have helped us the most have been those who know what they know but are accepting of what they dont know... and even better if they will admit that to you.

2. Be well informed - it helped us open up communication with our docs and helps differentiate the good from the bad

3. Look after yourself and enjoy the time with my Son. We got very absorbed, understandably in getting it sorted. We needed to be in great condition to be able to fix things for John.

4. Theres a world out there full of people (not just medics) who have experiences and knowledge to help - we were never on our own.

You mentioned EDS in your note - has your daughter had any tests for EDS and in particular the more rare forms other than just Hyper ?

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Mom2Danni
Mom2Danni
in reply to jimbo1605

I don't know what I would do without your advice. You have been through hell and back and I can relate. Glad he is okay now. Glad is an understatement. Our kids are everything aren't they. My GP said I need to stop looking! Wonder how she would feel if it were her child? I got so absorbed in helping her that I forgot to just chat though? Drove me slightly nuts all of this. No she has had no EDS tests. I am seeing the Gastro tomorrow and I will ask him (so useful thanks). On the upside (you know when you wish the blood tests would just come back abnormal so that they can help you child - sad really). She is ANA positive now and low C4. Hopefully they will diagnose on the 19th. GP actually did the results 3 months ago and only gave me the results on Fri! Gotta love those who go the extra mile in the NHS. Hopefully we are nearly there. When she is stable I will go back to all the Dr's who misdiagnosed her. I am legally qualified but won't sue - wouldn't win based on the negligence test in any event as 12 doctors all did the same thing (except the one I am with now) and I just want Danni stable and feeling better (however I will make the Dr sweat), apologise to Danni for saying it's in her head and go for courses with the British rheumatology society. Their diagnostic guidelines leave much to be desired. Not enough emphasis placed on looking at clinical presentation in the absence of bloods. I understand that the meds are scary and they don't want to misdiagnose, but waiting for 9 years until you child is ANA positive with disease progression (with damage to the muscles) is not the answer either? Hell knowing that something was wrong all these years but with negative tests which prevented access to the help she needed.

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jimbo1605
jimbo1605
in reply to Mom2Danni

Good to hear from you again and so glad you are making progress.

I would say at the outset that I am not medically qualified and so I can share experiences and make suggestions for you to take up with your doctors.

EDS is one of those many diseases that seems to co exist with auto immune. Does your daughter have thin stretchy skin, very bendy lanky limbs, and experience dislocations ? there is a quick series of tests you can do at home which could at least give you some idea of whether it is possible. The tests are available on line and there is an excellent Uk charity for EDS which has a helpline. You need a rheumy to take up this one and if it is a complex type you may need to be referred to the national centre in Harrow (from memory)

Turning to lupus :

Is her C3 normal ?

Has her immunoglobins been tested to sub class ?

Has she been tested for Sjogrens, bechets or Hughes ?

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi. No problem. All of this is still extremely helpful and I feel less alone in all of this. Yes, she has those symptoms relating to EDS. A few dislocations in her knees yes. Her C3 is normal. Immunogobins are normal so they have not tested sub class. No dry eyes - sjogrens? When she first became ill 9 years ago I thought it was bechets and told them but Great Ormond street went no further as she was ANA negative. I made a mistake in my mail. She is ANCA positive (Wegeners and polyangitis?) and C4 is low. I have never heard of Hughes. The Gastro today said one stool test is highly abnormal (should be a reading of 50 and it's 250). They are doing manometry, another endoscopy and colonoscopy to check for scleroderma / other connective tissue disease towards the end of Sept. 2 days in hospital. Will see what the rheumie thinks on 19 Sept. I will let you know. Send me a message perhaps if we are going to stay in touch? Thanks again.

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jimbo1605
jimbo1605
in reply to Mom2Danni

Its sounds like you are really making progress.

1. Hughes is thick blood and causes all sorts of problems - easy blood tests which are on the guys list sent before

2. If its looking like EDS with gastro impact then prof Aziz is the recognised as the expert in this area

3. EDS article with the website and helpline details

ehlers-danlos.org/informati...

4. It might help to check for hypermobility - your rheumy can do this but i will send a link in a following post so you can do it

Please let us know how things develop and my very best wishes to you and your daughter

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jimbo1605
jimbo1605
in reply to Mom2Danni

and the test for hypermobility (please ignore the academic debate at the end for all its failing it is the measure that is used in the UK

physio-pedia.com/Beighton_s...

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jimbo1605
jimbo1605
in reply to Mom2Danni

Sorry one last thought ..

Have your docs considered vascular EDS ?

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi. She has already been diagnosed with hypermobility. They diagnosed her when she was 8. I will have to use this to check her score out of 9 though. Will do the weekend. I note the symptoms of EDS and she has many of them. Thank you for that. They have not diagnosed Ehlers as yet, so no discussion of vascular EDS. I know what POTS is now after reading that. I need a break from this for a few days, so I will check her over the weekend.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi

I hope you are good? I took time off. I needed it. I also spent a week fighting with our health insurance and got them on ball so that she now has 2 consultants with her next week. Her Gastro and now she has a Rheumy at Great Ormond street. Better if both are in the same place to diagnose and the other Rheumy in Liverpool just supports. Next week she will be in hospital for 3 days for endoscopy, colonscopy and manometry with both consultants. If they cannot pinpoint which inflammatory disease it is , I will push for non specific or undifferentiated CTD / UCTD. Last Fri the Rheumy in Liverpool finally said she has an auto immune inflammatory disease and shared this with GOSH.

The delay has however caused damage to her oesophageal muscles (hypo active muscles). No treatment for this I have read other than

1)Stop inflammation and further progression - as inflammation immobilises muscles

2)Lifestyle changes

3)Acid blockers

Have you ever heard of this? I will put up a separate post too

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jimbo1605
jimbo1605
in reply to Mom2Danni

Hi and great to hear from you and glad that you have rested and even more so that you have made so much progress.

My wife has barretts oesophagus (entry into stomach) and erosive gastris in the stomach. PPI's (proton pump inhibitors) work well to help this so pills like lansoprozole and oemoprozole are low side effects and very effective; they just stop so much acid being produced and so reduce inflammation, swelling and risk of infection.

Out of interest has your daughter ever been prescribed cortosteroids like prednisolone and if so what was the result?

Sounds like you are nearly there just one more push. Please keep us all posted of your progress.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi

She is on lansoprozole at the moment. They should have prescribes steroids (prednisolone?) for a few months when she first couldn't breath / swallow but didn't. That would have stopped the damage? She is on no medication at the moment as I expect they will only confirm a diagnosis next week. Okay I will.

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jimbo1605
jimbo1605
in reply to Mom2Danni

wishing you and your daughter my very best for next week.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Thank you for everything you have done for us. I will keep you posted and stay in touch.

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jimbo1605
jimbo1605
in reply to Mom2Danni

good luck this week.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Thanks......

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jimbo1605
jimbo1605
in reply to Mom2Danni

Hi, I hope that last week's tests gave you some answers.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi. Waiting for blood results. Blood tests should be available this Fri. Inflammation all over though. Thyroid, antral, both parts of duodenum. Hopefully just a matter of time now. I have to see it to believe it.

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jimbo1605
jimbo1605
in reply to Mom2Danni

It sounds as though you are nearly there and I hope you now can get some answers. My very best wishes to you both.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Thanks Jimbo. I will let you know how we get on.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Hi. They have said it's just auto immune inflammatory disease and not lupus. She has inflammation in her thyroid, antral and both parts of her duodenum. The manometry of her oesophagus came back "essentially normal" they said. He dysphagia started at age 6 (after 1 year of tonsillar inflammation) then at age 14 she had the very high fever, landed in hospital and it got worse with the breathing and has been like that for 2 years. If it's not sluggish muscles causing the breathing issues I am not sure what it could be. What do they look for now? Drs insisted lungs were normal.

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jimbo1605
jimbo1605
in reply to Mom2Danni

Hi, firstly I am so pleased that you have made progress. A lot of the issues are quite similar to my wife and to a lesser extent my middle daughter so let me share some of our experiences and suggestions. I must say I am not a doctor and suggest to discuss these things with your doctors.

1. Try and press them on what type of autoimmune illness they think it is - this will help determine where else to look, prognosis and treatment. They will look for the specific antibodies which leave a footprint of specific illness.

2. Have they looked for vasculitis - this is normally in the blood vessels but there are types which impact on GI soft tissue and nerves.

3. Have they considered type 3 EDS - which is the vascular form

4. Have you ruled out PoTs ? it would explain a lot of the symptoms and breathlessness and goes with EDS and periods of inactivity. Theres an easy test get a finger tip monitor of 02 and heart rate. sit daughter down and relax for a while take heart rate. get your daughter to stand quickly and take heart rate reading again. If there is an increase of 30+ (formally its 40+) in heart rate within a few mins then see your gp to get a formal test.

5. It is easy to get caught up in a continuous stream of tests which are necessary but dont improve things now. What can your doctors do now to improve her quality of life?

Hope this helps.

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Mom2Danni
Mom2Danni
in reply to jimbo1605

Drafting a mail to the rheumy now. I will list all these things and they need to re check her lungs and thyroid. Thanks Jimbo. Gastro did not mention any form of EDS and he should know. Copying and pasting your mail to help, thanks.

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Pussbella
Pussbella
in reply to Mom2Danni

Just to say EDS type3 is the same as Heds and is the hypermobility type. This can be associated with gastro problems. Prof Aziz is one of the experts in this field.

Current thinking is that EDS is not autoimmune. It is generally inherited but is a connective tissue problem.

The old EDS type 4 classification which Jimbo mentioned (since 2017 these numbers are not used) is the vascular type. This is much rarer and associated with aneurysm and heart problems. This type is far rarer and there would be normally a history of early sudden death in your family.

I suspect Jimbo is referring to HEDs (under old classification type 3) in his post).

Though above would help if you are emailing doctors!

Bw

Pb

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Mom2Danni
Mom2Danni
in reply to Pussbella

Thanks. She is mildly hypermobile too. She is only 15 so cannot be seen by adult rheumatologists

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Brooksidecourt

Thank you Jimbo! And my best to Pooh Bear!

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jimbo1605
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Lizziequink

Thank you so much jimbo1605. Your post was so reassuring and I'm so pleased to hear that your wife has finally got her diagnosis and is being taken seriously. I have recently been 'sacked' by my rheumatologist for having the temerity to question whether or not I might have Lupus, as my GP had suggested was a distinct possibility based on my symptoms. Just the fact that someone had questioned his diagnosis was enough pull the plug on me without asking about the symptoms my GP had based her suspected (not definitive) diagnosis on.

Item 1 on your list pretty well sums up what I've been experiencing for a long time now. Very best wishes to you both.

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jimbo1605

Thanks for making contact.

I am afraid to say there are a lot of people who suffer the same experiences. In our direct experience I dont think they were bad doctors or bad Rheumys they just didnt know enough about a very complex and multi faceted illness.

View this as an opportunity to get yourself a doctor who knows about lupus even if you have to travel. In the meantime your GP could do a full lot of bloods for lupus that will speed up the process.

If you have the funds there are private lupus consultants who will diagnose and treat if they have a full set of bloods to start from.

Try and be informed about the illness as much as you can without it dominating your life. This forum is great for picking up experiences and knowledge to help you.

So my best wishes go with you but do stay in touch and let us know progress.

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Lizziequink

Thank you so much for your advice and support. Fortunately I have a very supportive GP practice and have been referred to another hospital. I'll keep you posted about how that goes :)

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Sekka

The support and interest for each other is so rewarding.

Yes it interests me that some doctors don't seem to know a great deal and yes maybe the search for individual satisfaction OR just roll with it (treatment is often the same anyway)

I guess having a label is helpful to us. Thankyou. I enjoyed your post..

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