Rare Disease Day 2017: Medical Research.
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
The theme for this year is ‘Research’, which is a most welcome topic to the
global Raynaud’s and Scleroderma patient.
Investment in medical research
provides immense hope and some comfort, to the rare disease patient living with
a currently, incurable, diagnosis.
Last year, I made the
focus of Rare Disease Day 2016:
–
Making the voice of the patient be heard -
the focus of my first article
for my ‘Living the Dream, Scleroderma Style’ Column at Scleroderma
News.
A disease or
disorder is defined as rare in Europe when it affects fewer than 1 in 2000.
A
disease or disorder is defined as rare in the USA when it affects fewer than
200,000 Americans at any given time.
In May 2016 I had the
pleasure to co-present with the lovely Aortic Dissection survivor, Timo Soderlund from
Sweden, and Rob, from RareConnect on ‘How to start an
awareness day for your rare disease’.
View Video, here
At 43minutes in, I discuss meeting the needs of
the rare disease patient.
Namely:
Early diagnosis, to prevent life threatening
damage therefore increasing life survival
Education and Awareness, with a holistic
approach from a multidisciplinary medical healthcare specialist center
Research and Development investment with
immediate access to innovative treatments
Specialist Centres are essential for best
practice in managing the medical needs of the rare disease patient
The Rare Disease Day
website states:
'80% of rare diseases have
identified genetic origins whilst others are the result of infections
(bacterial or viral), allergies and environmental causes, or are degenerative
and proliferative.
Over 6000 rare diseases are characterised by a
broad diversity of disorders and symptoms that vary not only from disease to
disease but also from patient to patient suffering from the same disease.
Relatively common symptoms can hide underlying
rare diseases leading to misdiagnosis and delaying treatment.
Quintessentially
disabling, the patients quality of life is affected by the lack or loss of
autonomy due to the chronic, progressive, degenerative, and frequently
life-threatening aspects of the disease.’
These statistics highlight the magnitude of
combating the rare disease plight.
However, although there are currently 6000 –
8000 identified named rare diseases, they all bare the same hallmarks, whereby
an early diagnosis and access to innovative medicines is crucial to increase
survival rates.
I have previously written about the importance
of an early diagnosis, Click here
As well as, the importance of the importance of expert specialist centres, Click here
This is particularly relevant to the Raynaud’s and Scleroderma patient where no two patients present with exact identical symptoms, making for a medical diagnostic and treatment challenge to the healthcare practitioner, and a journey of anxiety and hope to the patient.
As well as, the importance of the importance of expert specialist centres, Click here
This is particularly relevant to the Raynaud’s and Scleroderma patient where no two patients present with exact identical symptoms, making for a medical diagnostic and treatment challenge to the healthcare practitioner, and a journey of anxiety and hope to the patient.
However, as I highlighted in a previous
article, The Role of Medical Research, the landscape for the Raynaud’s and Scleroderma
patient in relation to medical research, has never looked so encouraging.
This
is particularly enhanced by the launch of the Journal of Scleroderma and
Related Disorders (JSRD) at the 4th Systemic
Sclerosis World Congress. Read more, here
There is just a year
left until the 5th Systemic
Sclerosis World Congress to be held in Bordeaux, France.
It is my current BIG
goal / personal challenge to be physically able to move this 'tin man' body, out of hibernation, to
attend the 5th Systemic Sclerosis World Congress.
However, I must be
realistic, as I have been wanting to attend all of the previous World Congress
meetings, but sadly, the physical exertion of travelling, combined with a few
days away from my home comforts (bed/ couch / dream team) has been too much to
even contemplate.
However, this year,
other than my medical appointments and any APPG Rare
Disease meetings, my time this year, is dedicated to getting this body into
training to try and realise the World Congress attendance dream, in a year.
Here in the UK, the
Government has committed to implementing the UK Strategy for Rare Diseases by
2020. To view the document, Click here
I will be writing more about this and the significance to the Raynaud’s and Scleroderma patient in due course.
I will be writing more about this and the significance to the Raynaud’s and Scleroderma patient in due course.
Sadly, this year I
will not be in attendance at the Rare
Disease UK Parliamentary reception, at the Houses of Parliament (my
favourite place).
Having attended last year, this experience still remains one
of my few patient highlights of the last 20 years. Read more, here
I was delighted to
have had my article included on the official Rare Disease Day 2016
press site as well as, my article was shared on the official Facebook page.
I think that this
video is a fantastic reflection of the rare disease patient’s faith placed in
the hope, which medical research brings.
To keep up to date
with events, please follow the Rare Disease Day updates at Scleroderma News, and, follow my ‘Raynauds Scleroderma
Awareness Global Patients’ Facebook Page.
Due to the necessary
requirement for funds for medical research I have set up the following Just
Giving Page for Raynaud’s medical research at the Raynaud’s Unit, The Royal
Free Hospital, as well as, Scleroderma medical research at the Scleroderma
Unit.
Please check the
corresponding Facebook links out:
100% of any donation
will be used to fund medical research led by Prof Chris Denton and Dr Kevin
Howell – both super geniuses in this niche rare disease, medical field, and
whom, share the same dream #SclerodermaFreeWorld #RaynaudsFreeWorld.
We have to find that
cure and better, improved treatments…..Let’s tell the world about the rare
disease of scleroderma on Rare Disease Day 2017….
Living the dream, scleroderma
style
#SclerodermaFreeWorld
#RaynaudsFreeWorld
An edited version of this article was published here, in my Column with Scleroderma News. February 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.
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 2017: Medical Research.
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
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