A few weeks ago, I shared that my latest appointment had me more confused than ever and the doctor I saw asked me why I wanted a formal diagnosis as "it makes no difference, the treatments are the same".
I'm struggling to find a way to say why it is important. Please can you fire off some suggestions to me?
Thanks everyone, Sarah
I'm afraid that I agree with your doctor, Autoimmune disorders have so much cross over that it is next to impossible to give what you have a name that is 100% certain. In fact, I think that your immune system being deranged is different for almost everyone and the only correct diagnosis is "SLS2103 syndrome" for you and "PMRpro syndrome" for me.
Having a "proper" name for it is historical, someone recognised a pattern in a set of patients and described it, often christening it with their own name for posterity, Mostly male, mostly a bit arrogant (I'm a DOCTOR, so I must be right!). At the time the signs and symptoms they could identify were limited and over the years, as science and technology progressed, it became apparent that while superficially several people looked the same, underneath they differed in their illness and that was why drug A worked for some but not all.
It's a bit like school uniform. At a distance, grey skirts/trousers, white shirts, everyone looks the same but up close, one mum shopped at Tesco, one at Asda, one at Sainsbury's and another had them tailormade. And we won't even THINK of their underwear ...
It gives our condition an identity to have a diagnosis. We can tell others want we have, family and friends, and also other medical professionals know what they are dealing with.
I could not be diagnosed with SLE but have an Undifferentiated / Undefined Connective Tissue Disorder (UCTD) diagnosis.
Could you ask them if you have this?
Bit of a mouthful..I just tell people it is 'like Lupus'. Treatment is the same ..yes..but at least it has an identity and then so do we.
For me, having a formal name to the thing changing my life provided a hook. I could start to understand how to self manage my condition. I could do research around different supports/diets/exercise.
For my job it meant my employer understood that I had a lifelong condition and that adaptions needed to be made to assist me in my working day. A name meant I could contact agencies such as Access for Work, who because I had Lupus would assess me and provide equipment. Friends/family had a starting point for understanding what was happening and the impact on life. The label was for everyone else more than myself. Although verification I was not a looney who went round making up bizarre symptoms and rashes did help my sanity.
On a semantic level, the dr is correct your treatment will be the same, you both know what it is. However, our support networks are structured around being able to define your condition and give it a name. That name needs to be on their list for things to happen. An autoimmune condition is too broad for most checklists. So sadly, we need a label, a box to fit in even if it is a blooming’ big box.
Call your rheumy nurses or the secretary of the doctor you saw & ask if the doctor has noted you as having any definitive condition.
Unfortunately it most probably will just state your General condition & symptoms , & to continue with present treatment….I have often peeped at my rheumatologist’s notes…,and over 20+ years it has never said “Patient has X” it just describes symptoms….medication & when see next.
AI diseases are not like something that is curable by taking a certain drug for a period of time & that is the end of it. Any AI disease is like a long journey,& none of us know where we are going with it……,on the whole we are just grateful there is medication to help.
Have you thought of finding some sort of therapist who can guide you through a way to accept that you may never be given a name to attach to your particular condition? Maybe that would help you be less anxious about being given a formal diagnosis?
Hi Sarah,
I am sorry to hear you have come away from your appointment disheartened. I can see you have received some great advice below from our community.
As mentioned, autoimmune conditions do have overlap symptoms and are difficult to diagnose precisely, however, below is a link to a publication from our website that might help regarding associated conditions.
lupusuk.org.uk/wp-content/u...
The below link is a blog that has advice on when and how to get a second opinion and change doctors.
lupusuk.org.uk/getting-the-...
If you have any other questions or need advice, please feel free to contact me at michaella@lupusuk.org.uk.
Keep us updated.
Warm regards,
Michaella
I actually can relate - but not so much for the importance of diagnostic labels as for what they can bring in treatment terms. Many moons ago I remember being given a disease name I didn’t feel convinced by, Rheumatoid Arthritis. Everyone told me I was just in denial but over a decade later the labels have changed a lot along with some symptoms progressing or arriving while others have gone or become minimal. Treatments I’m getting are actually quite different to those I would have been given as an RA patient.
I do have a rheumatologist who always starts letters with a diagnoses list. Until recently it was just called Overlap CTD without specifying what was in the overlap - just my autoantibody, other test results and symptoms.
So finally, when one of my infusion treatments, Iloprost, looked at risk because I didn’t tick the eligibility criteria - I sought a second opinion from a world expert, privately. I knew that it would only be a one-off - so I planned it meticulously, having checked first with my own rheumatologist that I had their blessing. They forwarded all of my test results and immunology for him. In the end it was a nailfold capillary test with a Derma scope that clinched it. He diagnosed me unequivocally with systemic sclerosis and accepted Sjogren’s overlap from lip biopsy years ago.
He added hypermobility spectrum and told me this was mainly noticeable in my very stretchy skin. This has left me with more questions than answers. It matters to me that all rheumatologists I’ve seen over the decades have ignored this. It matters because each time I’ve had a procedure I’ve had major healing and bruising problems with haematomas, atrophic stretch marks which split open and get infected, bled too much and suffered sepsis from post op cellulitis twice.
So, in anticipation of needing illeostomy and possible TPN soon, I want to broach genetic testing with my consultant when I see them for review in 2 weeks time. I feel it’s important after all these years, for her to write EDS rather than JHS and to know what subtype I have. From a Lupus friend with EDS I know this might not be well received because our consultant refers to their EDS as “your stretchiness thing”.
Would I have managed to continue on with a vaguer diagnosis if not for these reasons? Well I would like to fully agree with PMRpro really. I know we each have our name on our own overlap. But psychologically I think it’s much harder to accept without at least one specific label we can accept. It eats away at our mind otherwise - although I agree that, in theory, if treatments are same, it shouldn’t really. But we are all just human and want to feel we belong to the right support groups. And actually the more targeted treatments for biologics and anti TNFs are disease criteria specific. So, if and when there’s disease progression, it becomes more important to have clarity.
Thanks everyone for your responses. They are all greatly appreciated.I think it's partly because I spent almost 4 years unwell before a diagnosis of Coeliac Disease (another AI) about 20 years ago and feel a bit like 'it's all in your head' all over again.
And partly because 7 years ago I had breast cancer and I think I was able to deal with the cancer (despite losing my mum to the disease a few years earlier) because there was a defined treatment plan.
I have had therapy to adjust to the disabilities and the fact I've had to stop working at aged 48, but maybe need to return to this to adjust to the non-definitive nature of this disease/diseases.
Thanks again all. X
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