
Autoimmune
Disease Awareness Month, March 2017.
Raynaud’s,
Scleroderma, Autoimmune Rare Disease.

Autoimmune
Disease Awareness Month, March 2017.
Raynaud’s,
Scleroderma, Autoimmune Rare Disease.
An autoimmune disease
is one where the body’s immune response starts to attack itself.
In scleroderma
patients this is characterised by increased synthesis of collagen (leading to
the sclerosis), damage to small blood vessels, activation of T Lymphocytes and
production of altered connective tissues. Source: Wikipedia
Currently the
American Autoimmune Related Diseases Association Inc, AARDA, lists there to be over 80
different identified autoimmune diseases.

The most commonly known, include: Multiple Sclerosis, Rheumatoid Arthritis and Diabetes.
All autoimmune diseases are
identified by a specific blood test identifying the presence of specific
antibodies.
The presence of the anti-scl70
anti-topoisomerase antibody indicates diffuse scleroderma, where as the
presence of anti-centromere antibodies indicate the limited systemic form.
Other autoantibodies can be seen, such as anti-U3 or anti-RNA Polymerase which
indicates probable kidney involvement.
Other non laboratory tests for
a scleroderma diagnosis include skin score and organ function tests, such as
ECG, ECHO, lung function tests. Learn more about this, here

To know more about my skin
biopsy tests, Click here

February 28th was, Rare Disease Day Europe, and, Rare Disease Day US, with this year’s theme being ‘Research’.
I wrote about how this impacts
the scleroderma patient and rare disease patient, in general, here
As well as, I wrote about the
Scleroderma patients’ unmet clinical needs, here
The British Society for
Rheumatology, BSR, states within their report,
‘A collaborative approach to improving outcomes in rare rheumatic and musculoskeletal diseases: report from a National Workshop | 7’:
‘A collaborative approach to improving outcomes in rare rheumatic and musculoskeletal diseases: report from a National Workshop | 7’:
‘The spectrum of rheumatic and musculoskeletal diseases that are treated
by rheumatology teams includes over 200 conditions affecting blood vessels,
joints, bones, muscles and connective tissues.

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).
… Although these are distinct, individual conditions, for the purpose of
implementing the UK Rare Disease Strategy, they are best 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;
-
impact across
multiple (similar) organ systems and hence need the same MDT composition.
All these conditions have significant diagnostic delay, which is likely
to affect outcomes, (more organ damage at presentation) and higher treatment costs if organ
damage has already occurred e.g. renal replacement therapy.
The multisystem nature of these conditions, often requires simultaneous
care across several specialties.
For rare autoimmune conditions this is rheumatology, nephrology, respiratory
medicine, ENT and dermatology, and for rare bone diseases, rheumatology and
specialised orthopaedics, specialised endocrinology, and clinical genetics.
This can often result in fragmented care, with poor communication and
delayed decision- making leading to patients feeling ‘lost’ in the system.
There is therefore a prime opportunity to improve the coordination of
care, with multidisciplinary ‘one-stop-shop’ clinics enabling greater cost
efficiency and clinical effectiveness than existing systems of uncoordinated
care.
In common with other rare diseases, these conditions are also slow to
benefit from therapeutic advances; for example there has been only one new licensed
drug for Systemic Lupus Erythematosus in the last 50 years, Belimumab, which is
the subject of an on-going NICE appraisal which started in 2011.’
I had the pleasure and honour to present the ‘Raynaud’s and Scleroderma
patient’s reality’ at the BSR Conference in 2015. Click here, to view my presentation.
I wrote about the BSR published Scleroderma Management Guidelines, published
in June 2016, Click here
This year the
conference is to be held in Liverpool. For more details, Click here

On behalf of the
entire global scleroderma and Rare Disease community, I would like to take this
opportunity to offer immense thanks to the trailblazers Prof Chris Denton, and Dr Peter Lanyon, this year’s President, for their dedication and commitment to
improving our patient community’s reality, via their work with the BSR.
#superhuman

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.
I
discussed the necessity for expert specialist centres, Click here
as well
as, the importance of an early diagnosis, Click here
and, the
role of medical research to the scleroderma patient and the rare disease patient
in general, Click here
Autoimmune
Disease Awareness Month gives us the perfect opportunity to continue raising
awareness of Scleroderma, Raynaud’s and other autoimmune related conditions.
I discussed several of the ‘overlap symptoms’ such as Pain, Mobility, and, Fatigue, previously, with these being only a few examples of symptom commonality.
To view my June Scleroderma Awareness Campaign 2016, Click here
I discussed several of the ‘overlap symptoms’ such as Pain, Mobility, and, Fatigue, previously, with these being only a few examples of symptom commonality.
To view my June Scleroderma Awareness Campaign 2016, Click here


![]() |
Thanks to USA Patient Sharon Esposito for her image |
To keep up to date with the
social media campaign follow
#ADAM #SclerodermaFreeWorld
#RaynaudsFreeWorld
Living the dream, scleroderma
style


An edited version of this article was published here, in my Column with Scleroderma News. March 2017.
To read my articles:

Rare Disease Day 2018, Research - Taking Part in Clinical Trials, Click here
March Autoimmune Disease Awareness Month 2018, Click here
Global patient video, Click here
Becoming a Patient Research Ambassador for the NIHR, Click here
If we only had more RESEARCH investment for Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here
The Importance of Medical Research and Awareness to the Scleroderma, Raynaud's, Autoimmune Rare Disease patient, Click here

The Pandora’s Box of the rare autoimmune disease
Scleroderma, Raynaud's and Cancer, Click here


World Scleroderma Day 29th June 2017, Click here
Why Global Collaboration is important to the Rare Disease Patient, Click here

RARE DISEASE DAY:
Rare Disease Day 2018 – Research, Taking
Part in Clinical Trials. Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here
2016 Rare Disease Day Patient Voice
2016 Rare Disease Day Patient Voice


Rare
Disease Day is a fantastic opportunity for the entire rare disease
community to shine a spotlight on their reality, combining as one unified
voice. Where, at least one commonality presides –
Medical
Research provides the brightest light
for the illumination of the rare disease
patients’ plight.
I
highlighted other areas of medical research interest within Week 3 of my Patient Profiles Campaign for Scleroderma Awareness Month 2017.
VIDEO
VIDEO

Although
rare disease patients are few in number, eg. 2.5 million scleroderma patients
worldwide, (the World Scleroderma Foundation), the commonalities and golden
hallmark for each rare disease patient are the same:
Early Diagnosis
Expert Specialist Centres
Access to Innovative Medicines
Where MEDICAL RESEARCH investment
is VITAL.
Research
is the key. Abstracts from 2016 World Congress, Click here


The Family Day at the Scleroderma Unit, The Royal
Free Hospital is taking place on the 19th May 2018. Browse the
program, here
This year, I am celebrating 20 years of being a
patient at this world leading expert specialist research centre.
Sept 2017 |
I am eternally grateful to the global scleroderma
trail blazers Dame Prof Black and Prof Chris Denton, whose commitment and
dedication to unlocking the scleroderma enigma, is nothing other than,
superhuman.
I am truly humbled and inspired by their work
ethic. I am wholly appreciative for Prof Denton’s continued medical expertise
and support, especially during my barrister qualifying years, 1997 -
2004.
1st March 2004, I qualified as a self
employed practising barrister. Further to having been told in 1997, by my
diagnosing doctor, that I was looking at a 15month prognosis.
I very much hope to utilise my professional skills
and qualifications along with my patient experience, to help achieve the
#SclerodermaFreeWorld dream, hoping to improve understanding and best practice,
in the meantime.
For latest updates follow:

Facebook Page:
Twitter: @SclerodermaRF @RaynaudsRf
Google Plus: Raynauds Scleroderma Awareness Global Patients
#SclerodermaFreeWorld
#RaynaudsFreeWorld
#ADAM #Scleroderma
#Raynauds
#RareDisease
Living the dream, scleroderma style.

Please DONATE to help
fund medical research at The Scleroderma Unit,The Royal Free Hospital, London.

100% of your monies will be used for medical
research purposes only. No wages or admin costs. Thank You.
#HOPE



Last Update: April 2018
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