Help - trouble with diagnosis

[Severusisismydog]

Hi there,

Looking for some help/guidance here as im at a bit of a loss with what to do next. Sorry for the rambling but I feel so defeated

Im34 YO Female, and for about 2 years on and off I have had a number of lupus symptoms, Raynaud's in my hands, joint pain, horrendous fatigue that means I sleep for sometimes 16 hours a day, join pain in hands and feet and more present over the last year is the typical butterfly malar rash.

I had the typical lupus looking rash on my face about 4 or 5 times last year, doctor assumed allergy and gave me steroids/anti fungal creams, more recently its been more on the eyelids and turning into angioedema where eyes swell completely and have to go on steroids.

After pushing I had blood tests, nothing majoR flagged, slight CK elevation, CTD screen negative and then I had a lupus anticoag test. The first one came back positive but the dr told me you need two back to back positive to confirm diagnosis of lupus.

Naturally 12 weeks later when i had the second test it came back negative so they have ruled out lupus and keep telling me what I am having is allergic reactions but I struggled to understand how a perfectly fit 34 yo with no history of allergies suddenly develops one bad enough to cause these symptoms. I've kept logs to ensure its not food related and I cant identify a trigger so I'm not convinced.

I saw a rheumatologist who was quite unhelpful and basically fobbed me off with some more blood tests and that was it, heard nothing back for 6 months.

I struggle to not think this is autoimmune, these flare ups always happen when i am stressed, overworked, overtired with work/travel etc., generally when im feeling run down.

They also all start the same, tiredness, I get a mouth ulcer, start to feel run down, then the rash and accompanying swelling. Every time it happens I end up with at least 2 days off work and sleep all day feeling very unwell.

I dont really know what to do next, the drs said last week after the latest episode they thing its a "mystery" but didnt provide any follow up steps and even suggested I was a hypochondriac. who "wanted" lupus.

Its really affecting my life and I just dont know what to do next, if anyone has any advice or even similar experiences I would really appreciate it

Thank you again

Jo

[KayHimm]

Your fatigue sounds pretty severe. Was your positive test definitely the lupus anti-coagulant test? Anti-cardiolipin test result? Did the rheumatologist have the results?

I can hear why they are not able to diagnose you at this point. But if your rash was on your cheeks during a flare and responded to steroid cream, did your doctor say they were certain it was allergy?

Do you take your temperature during a flare? That is important. You sound like me in certain ways. I had to develop enough symptoms for them to know I had autoimmune disease.

You must be ready to give up. But don’t.

K

[MusicalFurbaby]

I feel your frustration! It’s so exhausting and demeaning to constantly have to push for certain tests and investigations, when all you want to do is curl up in a ball and sleep. I understand the desire for a label for your symptoms and also for some relief too.

I have similar symptoms in terms of fatigue (but not as severe as yours), joint pain, ulcers and rashes (but not the malar rash). It took me 8 years to get a diagnosis, even with positive bloods and an episode of pericarditis! The thing that helped me was getting a second opinion. I sought one from a rheumy that was recommended to me, and he turned out to be thorough and caring. So if you have the means to do so, I recommend getting a word-of-mouth second opinion, and even if you can’t, get your bloodwork repeated. Sometimes they have to repeat it multiple times over several years to determine patterns in your blood. That’s what they had to do for me.

Hang in there. We’ve been there and we understand. 🌻🌈💚

[Mctd]

Your symptoms mirror mine. I was told years ago the rash I get on my nose and cheeks was rosacea, but rheumatologist said it lupus rash, even though its not butterfly shaped - I'm not sure who is right...

I'm 7 years down the line and have been told over the years it's menopause, age, anxiety until I went to see a rheumatologist privately. He was very empathetic, assured me it wasn't all in my mind (a neurologist told me that the mind can play tricks on you...) and performed a range of tests. I was so shocked when I went to see him for my results, to find out that they had all come back negative for any auto immune conditions.

However, he didn't just rule it out. He assured me my symptoms were real. At the time I was in the middle of a flare, extremely fatigued, constant headaches, sinus issues, dry mouth, ulcers/canker sores, extreme pain in my hands and feet, I was extremely cold all the time, constant brain fog, pins and needles allover my body, problems with my ankles and calves. I was worn down and emotional, so to hear he wasn't going to turn me away saved me mentally. I'd got to a point where I'd rather have not woken up in a morning than live like I was.

He diagnosed me with UCTD, secondary fybromyalgia and Raynaurds. He set me off on Hydroxychloroquine, Fluoxitine and Amitryptiline along with a steroid shot. My symptoms eased greatly. However new ones began to start... My eyes and nose became very dry along my throat and on my recent visit diagnosed Sjogrens. I was so relieved, I could actually put a name to it! Once again, he gave me a steroid shot and things improved.

However, that bubble soon burst... As he had given me the diagnosis, he referred me to the Sjogrens specialist, rather than his general rheumatology clinic, I visited him last week. He looked at my blood tests and told me it wasn't Sjogrens! He said I don't meet the criteria and referred me to ENT and said my original diagnosis still stood.

I am now waiting for my ENT referral, though he did tell me if I had any respiratory issues to contact him (Ihad just had 7 weeks off work with respiratory issues and was eventually given steroids by my GP). Its never ending but at least I've got my original diagnosis.

I feel for you, when I read things on the forum about other people's test results being what they need to be to get a definite diagnosis I feel such a fraud. But, I know my symptoms are real and you need to believe that too. I can't suggest anything other than that, but I just wanted you to know you are not on your own. Xx

[Severusisismydog]

Gosh, can I just say - THANK YOU, I actually sobbed reading these because I know I'm not mad and you all made me understand that and feel validated. So thank you thank you thank you. You are all wonderful!

Yes I had a positive Lupus anticoag but then a negative one 12 weeks later so they ruled it out.

Anti-cardiolipin test result was negative and the rheumatologist had these. They dismissed my joint pain as "aging" - im 34.....

Re the rash, they didn't give me a steroid cream - the first time it ever happened they tried an anti fungal one, that didn't work and then since then it has been Prednisolone tablets I am given, I have to take about 30 before they fully work to get the swelling/rash gone.

Since the original post I've had another flare up, rash and swelling eyes, same thing - drs gave steroids and it went and back to square one.

I was off yesterday and slept for about 18 hours which is so horrible, I'm usually as a person very active and sociable so this is crippling.

I did speak to the GP today for a private referral to try and get a second opinion as some have suggested, so we'll see how we get on

Mctd - sounds so similar to me, the canker sores are how the flares always start for me. Ive had some sinus problems for about the same time too, id originally put them down to a nasal surgery I had but Id be interested to know what symptoms you have?

[Zephyrspurple]

hi Jo. So sorry to hear your story. I’m 37 and can’t believe I’m this sore and tired at my age! I dread to think how my joints will feel when I’m 70 if this is ‘just age’. And the symptoms you describe of extreme fatigue particularly after being stressed or overworked is so crippling. I also get that same fatigue and also the Malar rash on my face when I feel this way. I’m usually such an active person with endless energy and the most upsetting part is that I don’t recognise myself anymore. I hope you’re ok at get a diagnosis. You are not alone.