"Rheumatology, rare disease, autoimmune"

I was referred to rheumatology in the Ulster Hospital because I was having problems with my legs, both feet would get very hot, swollen and bright red. It would spread up my legs and started to affect my hands too. I also started getting extreme muscle weakness and fatigue in my legs along with a feeling of heaviness and pain in my joints. I was also getting increased cold sensitivity and have Raynauds disease. I also suffer from gynae conditions and a heart condition.

At my first appointment in 2017, I had a thorough consultation and had lots of tests. I was feeling confident and that my symptoms were being taken seriously. For my next appointment, the named consultant had taken over my case. I asked about the tests that had been carried out and was told that one of them was positive but it was rare and unlikely so probably a false positive. My symptoms were minimised and I was referred to dermatology for an assessment. I had this test repeated and again it was positive. 

When I saw my consultant again, who confirmed this positive diagnosis of a rare blood condition and admitted they didn't know much about it and did not know what to do. This consultant suggested I "keep warm" while they researched the condition and liaised with specialists in London. I had to research this condition myself. It means that my blood can clot very easily if my body temperature drops below normal but I am also incredibly cold all the time.

I haven't been seen by my rheumatologist since 2018 and am still without a treatment plan. They haven't contacted the specialist and seemed surprised that I expected him to research the condition.

My dermatologist has been active in diagnosing and treating the skin symptoms and has tried to encourage my rheumatologist to do further testing since the tests I've had were years ago and I have deteriorated since. I've also been to a neurologist and had scans and tests to rule out a neurological condition. My neurologist and dermatologist agree that many of my conditions and symptoms are attributable to an autoimmune disease. 

My dermatologist, occupational therapist and specialist nurses and consultants in the chronic pain clinic have all witnessed my extreme coldness, in some cases making it impossible to find veins for blood tests and treatments. My rheumatologist is thoroughly convinced that I do not have cold sensitivity and commented that there was nothing they could do because I was taking care of myself too well by wearing several pairs of socks and multiple layers. 

I cannot work due to these debilitating symptoms. I cannot feel my feet because they are so cold and have to attend podiatry regularly because I am prone to injuries and wounds. This year alone I have had multiple joint dislocations and subluxations. 

All of my other consultants in other departments (at the moment I attend 9) are active in managing my treatment but their work is stalled because they concur that I most likely have an autoimmune condition and I need rheumatology to test for and diagnose what this condition is. I know a number of suggestions have been raised with rheumatology but I am still without a diagnosis or treatment plans.