Rare Disease Day 2016. Patient Voice.
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
What is Rare Disease Day?
‘Held each year on the last day of February, Rare
Disease Day is an annual awareness-raising event coordinated by EURORDIS.
The main objective of Rare Disease Day is to raise
awareness amongst the general public and decision-makers about rare diseases
and their impact on patients’ lives.
The campaign targets the general public and also
seeks to raise awareness amongst policy makers, public authorities, industry
representatives, researchers, health professionals and everyone with an
interest in rare diseases.
Since Rare Disease Day was first launched by
EURORDIS and its Council of National Alliances in 2008, thousands of events
have taken place throughout the world, reaching hundreds of thousands of people
and resulting in a great deal of media coverage.
The political momentum resulting from Rare Disease
Day also serves advocacy purposes. It has notably contributed to the
advancement of national plans and policies for rare diseases in a number of
countries.
Even though the campaign started as a European
event, Rare Disease Day has progressively become a worldwide phenomenon, with
the USA joining in 2009, and patient organisations in 85 countries around the
world participating in 2015. Our objective is for the World Health Organization
to recognise the last day of February as the official Rare Disease Day.’
I was deeply honoured for Eurordis to have included
my “Living with scleroderma” story within their first e-newsletter of 2016, as
well as to feature it on their website.
Systemic Sclerosis: A Rare
Disease
Systemic sclerosis (SSc), scleroderma, is a rare
multisystem systemic autoimmune disease affecting the connective tissue of the
skin, blood vessel wall, and internal organs, and is capable of causing a wide
range of tissue damage mediated mainly via microvascular injury and excessive
fibrotic response.
The most common vascular manifestation of SSc is
Raynaud’s phenomenon due to excessive vasoconstriction, but more marked
vascular involvement resulting in digital ulceration occurs at some point in up
to 55% of SSc patients.
Diffuse cutaneous SSc differs from the limited SSC
by the extent of skin involvement, specific auto antibodies and worse
prognosis.
(References 1. Ferri C, Valentini G, Cozzi F et al.
Systemic sclerosis: demographic, clinical and serologic features and survival
in 1,012 Italian patients. Medicine (Baltimore) 2002; 81:139-53. 2. Khimdas S,
Harding S, Bonner A et al. Associations with digital ulcers in a large cohort
of systemic sclerosis: results from the Canadian Scleroderma Research Group
registry. Arthritis Care Res 2011; 63:142-9).
Organ involvement includes skin (telangiectasias,
Raynaud’s symptoms, digital ulcers, gangrene, fibrosis), kidney (up to renal
crisis), heart (cardiomyopathies, CHF, arrythmis), interstitial lung disease
(fibrosis) and PAH, joint tenderness, oesophageal and GI tract motility
disturbances leading in severe cases to malabsorption and pseudo-obstruction.
The disease is devastating, with 30-50% 5-year
mortality, 60-80% 10-year mortality, depending on organ involvement (especially
lung). An updated ACR/EULAR classification for diagnosis was published in 2013
(Frank van den Hooge et al.Ann Rheum Dis; 2013).
Currently, there is no approved medical treatment
available to prevent the vascular and fibrotic damage in patients with SSc and
the treatment is symptomatic.
Rare Disease Day is a fantastic opportunity to
bring rare disease patient communities together across the globe.
Global collaboration is key to deciphering the rare disease trigger and the treatment codes.
Global collaboration is key to deciphering the rare disease trigger and the treatment codes.
The UK scleroderma facebook family, in recognition
of Rare Disease Day posted their real life photos to be grouped together, for a
poster in support of the Rare Disease Day awareness campaign to give a snap
shot and visual aid as to the true reality of living with this rare disease.
Rare diseases at a glance:
According to Eurodis: A rare disease,
also referred to as an orphan disease, is any disease that affects a small
percentage of the population.
Most rare diseases are genetic, and are present
throughout a person’s entire life, even if symptoms do not immediately appear.
In Europe a disease or disorder is defined as rare when it affects less than 1
in 2000 citizens.
Rare diseases are characterised by a wide diversity
of symptoms and signs that vary not only from disease to disease but also from
patient to patient suffering from the same disease. (Particularly so, with
scleroderma and Raynaud’s).
Relatively common symptoms can hide underlying rare
diseases, leading to misdiagnosis. (Particularly so, with scleroderma and Raynaud’s).
FACT SHEET
According to the European Medicines Agency: about 30 million people living in the European Union (EU) suffer from a rare disease.
According to the European Medicines Agency: about 30 million people living in the European Union (EU) suffer from a rare disease.
Rare diseases are defined as life-threatening or
chronically debilitating conditions that affect no more than 5 in 10,000
people in EU. This is equivalent to around 250,000 people or
less for each disease.
This equates to approximately 3.5 million people in
the UK and 30 million people across Europe, as by raredisease.org.uk,
‘In the
UK, a single rare disease may affect up to about 30,000 people. The vast
majority of rare diseases will affect far fewer than this – some will affect
only a handful, or even a single person in the whole of the UK.
80% of rare diseases have a genetic
component. Rare diseases can be single gene, multifactorial, chromosomal
or non-genetic due to degenerative and proliferative causes.
75% of rare diseases affect children, and 30% of
rare disease patients die before their fifth birthday.’
Medical and scientific knowledge about rare
diseases is lacking. The number of scientific publications about rare diseases
continues to increase, particularly those identifying new syndromes. However,
fewer than 1,000 diseases benefit from even minimal amounts of scientific
knowledge. These tend to be the rare diseases that occur most frequently.
The European Medicines Agency ‘plays a central role
in the development and authorisation of medicines for rare diseases. These
medicines are termed ‘orphan medicines’ in the medical world.
Since the pharmaceutical industry has little
interest, under normal market conditions, in developing and marketing medicines
intended for small numbers of patients, the EU offers a range of incentives
to encourage the development of these medicines.
The EU’s Seventh Framework Programme for Research and Technological Development (FP7), ran between 2007 and 2013, boosting research into rare diseases.
Its first
phase focused on innovative and multidisciplinary projects investigating
non-infectious, non-cancer rare diseases.
This knowledge provides the basis for
future development of new approaches to diagnose, treat and prevent rare
diseases’.
I hope that I have given a brief-ish synopsis as to
the concept of Rare Disease Day and the descriptive elements of having a rare
disease.
References:
An edited version of this article was published here, in my Column with Scleroderma News.
Feb 28th 2016.
I was elated to see the official Rare Disease Day social media platforms feature my article.
 | ||
| My article for Rare Disease Day 2016 was published on the Rare Disease Day website and the Rare Disease Day social media platforms. |
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.
2016 Rare Disease Day Patient Voice
2016 Rare Disease UK Parliamentary Reception
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 |
 |
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.
Rare Disease Day 2016. Patient Voice.
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
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