Autoimmune
Disease Awareness Month, March 2017.
Scleroderma, Raynaud's,
Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
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’.
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
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 |
All in all, increased investment in clinical and medical research is desperately needed to improve the day to day reality of the patients who are living on the autoimmune and rare disease diagnostic journey.
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.
Scleroderma Family Day
2020
25th
Anniversary Meeting
The Atrium, Royal Free
Hospital, London, NW3 2QG
Chair: Professor Chris
Denton
PROVISIONAL PROGRAMME
09.30 – 10.00 Registration
and Coffee
10.00 – 10.20 Welcome Dame
Carol Black
Prof Chris Denton &
David Abraham
10.20 – 10.40 What
is a Biopsy? Dr Kristina Clark
10.40 – 11.05 Dental
aspects of Scleroderma Prof Stephen Porter
11.05 – 11.25 Gastrointestinal
problems – Dr Fiza
Ahmed
shedding
new light on old problems
11.25 – 11.50 Pulmonary
hypertension and the heart Dr Gerry
Coghlan
11.50 – 12.15 Scleroderma
cohort studies – Dr
Francesco
‘Learning
from our patients’ del Galdo
12.15 – 14.15 LUNCH
BREAK – see below
14.15 – 14.45 25
years of progress – Prof
Chris Denton
from
‘black box’ to ‘positive trials’
14.45 – 15.15 International
speaker – Dr
Madelon Vonk
Scleroderma
Management in Netherlands
15.30 Raffle
Lunchtime Discussions Groups /
Demonstrations include:
Clinical Trials Rachel
Ochiel and team
National Institute of Health Research Christine Menzies
Drug Information / monitoring Pharmacy
Massage Keith Hunt MBE
Pulmonary Hypertension Education / nursing Sally
Reddecliffe/Adele Dawson
Rheumatology Laboratory Research
Laboratory Staff
Scleroderma Education / Nursing Louise
Parker/ Joseph Cainap
Thermography Dr Kevin Howell
SRUK Ollie Scott
Sjogren’s syndrome British
Sjogren’s Society
To Read My Articles:
Gift in My Will, Click here
Planning for the Future, Click here
Rare Disease Day:
Rare Disease Day 2020:
Listen to my interview with John Smeeton, (Silver Fox), from the Royal Free Radio, here
Raise awareness and donate to medical research, order your #SclerodermaFreeWorld #RaynaudsFreeWorld tshirt here
Rare Disease Day 2020:
Listen to my interview with John Smeeton, (Silver Fox), from the Royal Free Radio, here
Raise awareness and donate to medical research, order your #SclerodermaFreeWorld #RaynaudsFreeWorld tshirt here
Rare Disease Day 2019: 11am 97.4RockFM headlines, NO CURE, Click here
Rare Disease Day 2018 – Research, Taking
Part in Clinical Trials. Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here
2018 Scleroderma Awareness Raising and Medical Research, Click here
This year, 2020, I am celebrating 22 years of being a patient at the Scleroderma Unit, The Royal Free Hospital - a world leading expert specialist, research centre.
Read more, here.
#SclerodermaFreeWorld #RaynaudsFreeWorld #Research
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.
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.
provides the brightest light,
for the illumination of
the rare disease patients’ plight.
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 overall.
For optimum
patient care, 3 hallmarks preside:
INVESTMENT in MEDICAL RESEARCH is CRUCIAL.
To read my articles:
Celebrating 20 years of being a patient at the Scleroderma Unit, Click here
2019 New Challenges, Click here
NIHR Video: 'My
Experience of Clinical Trials', 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
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
2018 Scleroderma Awareness Raising and Medical Research, Click here
SCLERODERMA:
Global Patient Profiles 2018 Video, Click here
Unmet Medical Needs, Click here
Calcinosis Video, Click here
The scleroderma tooth fairy, Click here
Skin Cancer and scleroderma, Click here
Unmet Medical Needs, Click here
Calcinosis Video, Click here
The scleroderma tooth fairy, Click here
Skin Cancer and scleroderma, Click here
 |
| Sept 2017 |
 |
| Prof Chris Denton and I, Sept 2017 |
 |
| June 2019 |
 |
This year, 2020, I am celebrating 22 years of being a patient at the Scleroderma Unit, The Royal Free Hospital - a world leading expert specialist, research centre.
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. Along with the
Raynaud's world trail blazer, Dr Kevin Howell.
I am truly humbled and inspired by their work ethic and commitment to
their patients.
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 original diagnosing doctor, that I
was looking at a 15month prognosis.
 |
| Chat Magazine May 2019 |
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. Read more, here
World Scleroderma Day
2015, 29th June.
 |
| James Carver, myself, Prof Chris Denton |
I had the pleasure of being a presenter and part of
the European co-hort who gave a presentation at the European Parliament,
Brussels, in honour of World Scleroderma Day 2015.
I am immensely grateful to James Carver, former MEP, for organizing this event in memory of his late wife Carmen, who sadly passed from Scleroderma.
I am immensely grateful to James Carver, former MEP, for organizing this event in memory of his late wife Carmen, who sadly passed from Scleroderma.
To view the presentation, Click here
Raynaud's:
October:
Raynaud's, Click here
 |
| The global Raynaud's trailblazer - Dr Howell and I, Sept 2017 |
For latest updates follow / subscribe:
@SclerodermaRF
@RaynaudsRf
@SclerodermaRF
@RaynaudsRf
Twitter, Instagram, Blogger, YouTube, Facebook Page:
#SclerodermaFreeWorld #RaynaudsFreeWorld #Research
100% of your monies will be used for medical research purposes only. NO wages or admin costs. Thank You.
Last Update: Feb 2020.
Autoimmune
Disease Awareness Month, March 2017.
Scleroderma, Raynaud's,
Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
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