Seeking a diagnosis

[Swiftdolphin]

Hiya, I've been a silent member for almost a year. It has been very helpful to read other people's stories and has helped me feel less alone.

I am a 23yo female and have struggled with daily fatigue and generalised muscle and joint aches and pains for over a year. I have been to the GP on a few occasions about this and had numerous blood tests, including CRP and checks for rheumatoid arthritis markers. The only abnormal findings included an iron and folate deficiency. I have been on supplements and they help slightly with my energy levels. But as soon as I stop them the deficiencies come back.

I have developed other symptoms over time including occasional:

- tight chest and easily out of breath

- headaches

- nausea

- face flushing episodes

- mouth ulcers

- sun sensitivity/hives

- dry eyes

After further research, I'm now starting to suspect it may be down to an autoimmune condition e.g. lupus, MS, fibromyalgia. I have contacted my GP last week after a flare up in symptoms. They could only offer me a telephone consult next month!!! I want to make sure I'm prepared for it, to prevent any further delays on my diagnosis journey.

My questions are:

- Has anyone else been diagnosed with iron/folate deficiencies prior to a lupus diagnosis

- Any advice on how to approach getting an diagnosis/rheum referral or any specific tests to ask for?

Many thanks xx

[Maycontainnuts]

hello swiftdolphin, life is hard enough without battling against fatigue and continual ailments isn’t it? I do empathise. AI conditions are famously difficult to diagnose, there are so many of them, hallmarked by a wide range of fluctuating symptoms common to many diseases, everyone presents differently and with a few exceptions no specific blood markers so tests are not conclusive. The road to diagnosis can be long and complicated, unfortunately now compounded by difficulties getting GP appointments and unacceptably long waits for specialist referrals. I lived for decades having symptoms addressed in isolation, eventually investigated for MS and other diseases before arriving at a SLE diagnosis and that wasn’t even the end of the road, it was the start. knowing what I know now my advice would be around managing expectations because this could take a while, and managing stress because some symptoms can be caused and/or exacerbated by stress. Believe me when I say health anxiety can be a condition all by itself! Dr Google has a lot to answer for, i understand your need to know but it can cause unnecessary worry so resist if you can. GPs get a lot of scorn, yes there are good and bad and they aren’t experts on AI, but medicine is both an art and science, their knowledge is acquired over years at medical schools and on the job, your specialist knowledge is your own body so your job is to eat well, exercise & keep a detailed diary of symptoms so you can give the doc as much information as you can, then go about your life and enjoy your time as much as possible. Be assertive and become your own health advocate. It took me many years to learn that, im 65, things were very different in my 20s so I think & hope you have an advantage there By all means say you’re worried you may have an AI condition and ask if you meet whatever their criteria is for a specialist referral. If you meet resistance make an appointment with another GP at the practice for a 2nd opinion. I have tried to be realistic & hope I haven’t filled you with despair, that was not my intention. A big issue for me over all these years has been unrealistic expectations and I see it in others so I try to help in that at least. Sending love x

[Jerg]

I suggest you ask rather insist your GP refer you to a specialist. I had the same problem and my GP was saying all sorts and giving me so many different creams and tablets until I ended up going to A&E as the pain became unbearable, this is where the nurse you examined me send me with a letter to my GP to refer me the same day to the specialist. There I was diagnosed with SLE lupus that day

[Sushilovey]

I completely sympathise with your situation, it’s very tricky to try and get to the bottom of what is going on when your symptoms can be linked to lots of different conditions. I didn’t have the same as you but had quite a few symptoms and luckily had a supportive GP who ordered a variety of bloods which is when it became more apparent that it was autoimmune. I ended up being dismissed by an NHS rheumatologist despite having the necessary criteria, so I went to see a rheumatologist privately who diagnosed me with Lupus and then referred me back to the NHS and the rheumatologist I see now on the NHS has been ok. Looking on here it is a long road for most people but you have to keep on being your own advocate. Good luck x

[bofishandchips]

I would think you have sufficient markers for a GP to refer you to a Rheumatologist. I was getting nowhere with different GPs failing to agree on what type of arthritis I had etc. On the last GP appointment I asked to see a Rheumatologist. I had to wait 6 months but what a difference when I had my first consultation! A suggest you keep asking. Good luck!

[StriatedCaracara]

My first step was to ask GP for an Antinuclear Antibody (ANA) test.Some blood test centres may also do these tests but ensure if ANA positive, ENA screen and anti-ds DNA is done too.

GP should be able get these done, I was advised I might need to go to another GP.

healthunlocked.com/lupusuk/...

[StriatedCaracara in reply to StriatedCaracara]

Here is the 2019 SLE Classification criteria table intended for resaech but which some use to diagnose SLE.

A positive ANA is an entry criteria and then only highest symptom ( left side) and highest immunological score in relation to bloods is scored.

People need a total of at least ten points when one item from left and right are added together. Having lots of symptoms is not taken into account.

Only lupus nepritis scores 10, so if score anything else like 6, then positive blood results on right side needed.

Personally think should return to more than 4 of 11 symptoms system if blood tests so unreliable and results for some people change.

(I was diagnosed with Undiiferentiated Connective Tissue Disorder as did not have necessary symptoms. Symptoms and treatment similar.)

ncbi.nlm.nih.gov/core/lw/2....