An autoimmune disease is one where the body’s natural defence system, the immune system, malfunctions / ‘trips out’, resulting in the body attacking itself.
The American Autoimmune Related Diseases Association Inc, AARDA, list there to be over 100 different, currently identified, autoimmune diseases.
With the rare disease Scleroderma, the body’s autoimmune system becomes activated causing fibrosis / thickening to the skin, blood vessels, muscles, connective tissue, bones and internal organs. In essence, the ENTIRE body is attacked.
Currently, this activation process, ‘on switch’, is still not fully understood, scientifically. And, sadly, neither is the ‘off switch’. Current treatments target symptom suppression, as opposed to disease eradication. Investment in medical research is crucial for progress in scientific understanding.
Common presenting symptoms for most of the autoimmune diseases include, tiredness by way of extreme exhaustion, as well as,swelling and inflammation of the body of the joints, hairloss. And of course, PAIN. Making for the daily mantra ‘Ah great, another day to spend in bed’.
These presenting symptoms can often lead to a slow diagnosis. Which, can lead to further complications, which maybe, potentially, life threatening.
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Another commonality which presides amongst the autoimmune disease community is the ‘Invisible Disability’ label.
For, most autoimmune patients, and scleroderma patients alike, hearing ‘But you look so well’ is a welcome compliment, however, it can be extremely frustrating, when the actual reality, is that, you feel quite the opposite.
Some patients have told me of their frustration of not being believed as to the severity of their ‘invisible symptom’, not just by their families, but also by the medical professionals, with whom they have seen.
A common symptom seen within the autoimmune disease community, is the presence of Raynaud’s phenomenon.
However, not all Raynaud’s patients will have an autoimmune condition, this is when it is known as primary Raynaud’s.
When Raynaud’s presents with another condition, eg. an autoimmune disease, it is known as secondary Raynaud’s.
ALL of the patients, who kindly took part, reported experiencing Raynaud’s, along with, digital ulcers, being a foregone conclusion.
All of the patients reported exhaustion, swelling and pain to be current ongoing unmet clinical needs.
The British Society for Rheumatology, BSR, has a clear strategy to try and improve the current treatment for such patients:
‘Rare Rheumatic Musculoskeletal Diseases (RMDs) can be categorised into two distinct groups:
Rare autoimmune rheumatic diseases, comprising:
- Systemic Vasculitis (eg. ANCA-associated Vasculitis, Giant Cell Arteritis, Takayasu’s Arteritis, Behçet’s Syndrome)
- Autoimmune Connective Tissues Diseases (eg. Systemic Lupus Erythematosus, Systemic Sclerosis (Scleroderma), Myositis, Sjogren’s Syndrome)
Rare non-autoimmune rheumatic diseases, comprising:
- Metabolic, sclerosing and dysplastic bone diseases (eg. Osteogenesis Imperfecta, Fibrous Dysplasia, Hyperostosis Syndromes, SAPHO syndrome)
- Dysplastic diseases of joints and inherited disorders of connective tissue (eg. Epiphyseal Dysplasias, Ehlers Danlos Syndrome, Marfan Syndrome,Stickler’s Syndrome).
The BSR recommends that:
‘This group of patients can be best served, along with the implementation of the UK Rare Disease Strategy by being considered under a single ‘umbrella’. This is because they share a number of common features, including:
- Overlapping clinical and serological features
- Similar disease mechanisms, many of which have origin in immune system abnormalities
- Convergent treatment pathways; immunosuppression, B cell depletion or cytokine inhibition
- Multisystem nature of these conditions, often requires simultaneous care across several specialties. Multidisciplinary ‘one-stop-shop’ clinics enabling greater cost efficiency and clinical effectiveness
- In common with other rare diseases, these conditions are also slow to benefit from therapeutic advances.
I had the pleasure and honour to present the ‘Raynaud’s and Scleroderma patient’s reality’ at the BSR Conference in 2015.
BSR 2018 Conference, 1st – 3rd May, Liverpool, UK.
BSR published Scleroderma Management Guidelines, June 2016.
Huge thanks to the current president, Dr. Peter Lanyon, for his outstanding commitment to the rheumatological community as a whole.
Clearly, there is a large need for improvement in the medical and clinical care of the autoimmune patient, and even more so for the rare disease, autoimmune patient, such as Scleroderma.
However, for best practice and care:
Where MEDICAL RESEARCH investment is VITAL.
This video shows all of the global patients who kindly shared their Scleroderma, Raynaud’s, autoimmune Rare Disease experience for awareness purposes.
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