Rare Disease Day 2016.
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
On Wednesday 2nd March 2016, I had
the honour of attending the Rare Disease UK reception for rare diseases at the
House of Commons hosted by Liz Kendall MP.
This is the fourth time that Liz has hosted the
annual reception for recognising rare disease day, which is scheduled as the
last day in February, with the hope that the World Health Organisation will
recognise it as the official ‘rare disease day’.
I blogged about this in my last post, as well as
‘why Rare Disease Day is so important to patients’, here.
I arrived at the House of Commons to the thunderous
peal of Big Ben alerting London to the fact that, it was midday.
This was quite a poignant moment for me, as anyone
who knows me, will know that at this time on a ‘normal’ Wednesday, I am glued
in front of my television for the weekly Prime Minister’s Questions, if
Parliament is sitting.
And so, it was a huge honour for me, to be away
from my sofa and dressing gown, in person, at the House of Commons at this time
and day.
Weeks of preparation had gone into preparing my body for this Herculean physical exertion of a big day out! And, incidentally, it was 12 years and 1 day since I had qualified as a practising barrister on 1st March 2004!
Weeks of preparation had gone into preparing my body for this Herculean physical exertion of a big day out! And, incidentally, it was 12 years and 1 day since I had qualified as a practising barrister on 1st March 2004!
Here is a photo, which the taxi driver kindly
snapped, quickly, of my eskimo disguise, arrival – so quick that I had not had
chance to put my glove back on, having shown him how to operate the camera!
The reception started promptly at 12.30pm whereby
Alastair Kent OBE, Genetic Alliance UK; George Freeman MP, Minister for Life
Sciences; Dr Gina Radford, Deputy Chief Medical Officer; Elizabeth Kendall MP;
Fiona Marley, NHS England; Ben Howlett MP, all gave insightful, encouraging
talks to the 150 attendees, 87 different organisations/ diseases who were
represented.
Insightful, by way of the Government’s commitment,
along with cross party support, to the implementation of the UK Strategy for
Rare Disease and its 51 commitments, which has been set out to be achieved by
2020.
The strategy can be broken down into the following
5 subheadings:
- Empowering those affected by rare diseases
- Identifying and preventing rare diseases
- Diagnosis and early intervention
- Coordination of care
- The role of research
‘Effective implementation of the Strategy will
ensure people living with a rare disease have access to the best evidence-based
care and treatment that health and social
care services, working with
charities, researchers and industry can provide’
~ Alastair Kent, OBE, Chair of
Rare Disease UK.
The theme of this year’s rare disease day was
‘patient voice’.
The immense value of patient voices for rare diseases was recognised by all of the speakers, with the recognition that each patient is an expert in their own diagnosis, and who, have often had to educate the medical professionals they encounter.
The immense value of patient voices for rare diseases was recognised by all of the speakers, with the recognition that each patient is an expert in their own diagnosis, and who, have often had to educate the medical professionals they encounter.
In relation to my diagnosis, I am blessed to be a
patient of one of the world leaders and trailblazers for Systemic Sclerosis and Raynaud's (Ssc), Professor Denton.
This is a huge comfort to me, given that there is currently no cure, and my life has been turned upside down, due to my diagnosis and the debilitating symptoms it brings.
This is a huge comfort to me, given that there is currently no cure, and my life has been turned upside down, due to my diagnosis and the debilitating symptoms it brings.
Liz Kendall stressed the importance for patients to
hold the politicians to account with the Government’s commitment to the
strategy, and given that my diagnosis no longer allows me to continue as a practising
barrister, my dream job, which I studied and worked hard for- I will most
certainly be keeping a keen eye on the progress of the strategy!
Fiona Marley from NHS England stressed the
importance of an early diagnosis to prevent a potentially damaging and life
threatening prognosis and endorsed the UK Strategy for Rare Diseases commitment
to ‘work to achieve reduced times for diagnosis of rare diseases.
As, delayed diagnosis can have a significant impact on a patient’s health, treatment options and even life expectancy’.
As, delayed diagnosis can have a significant impact on a patient’s health, treatment options and even life expectancy’.
A recent study, The Rare Reality, undertaken by
Rare Disease UK, found that,
‘Following the onset of symptoms nearly half of all respondents waited over one year to receive a diagnosis and 1 in 4 patients had to wait over five years for a diagnosis.
Rare disease patients wait an average of four years for their diagnosis’.
‘Following the onset of symptoms nearly half of all respondents waited over one year to receive a diagnosis and 1 in 4 patients had to wait over five years for a diagnosis.
Rare disease patients wait an average of four years for their diagnosis’.
Fiona also went on to mention the advantage of
specialised expert centres, with the potential to be applicable as European
Reference Networks, as led by Eurordis, where collaborative care would be of
huge benefit to rare disease patients.
Again, on a personal level, I feel blessed to be
under the care of the specialist centre for Ssc at The Royal Free hospital in
London, with Prof Denton as Head.
However, when I first became his patient, he had just qualified as a Consultant in Dame Prof Blacks’ team, 1998!
This continuity of expert care, I believe, is of HUGE importance in the treatment of rare disease patients.
However, when I first became his patient, he had just qualified as a Consultant in Dame Prof Blacks’ team, 1998!
This continuity of expert care, I believe, is of HUGE importance in the treatment of rare disease patients.
The final speaker of the day was Ben Howlett MP.
Ben has recently been elected as the Chair of the APPG (All Party Parliamentary
Group) on rare, genetic and undiagnosed conditions.
Ben expressed his commitment to the rare disease landscape and affirmed his dedication to improve the current situation, keeping the patient voice at the forefront of his work, and honouring the UK Strategy commitment. Here is a photo of myself with Ben and Dr Larissa Kerecuk, who is the Rare Disease Lead at Birmingham Children’s Hospital and is developing the Rare Disease Centre there. A blessing to her patients.
Ben expressed his commitment to the rare disease landscape and affirmed his dedication to improve the current situation, keeping the patient voice at the forefront of his work, and honouring the UK Strategy commitment. Here is a photo of myself with Ben and Dr Larissa Kerecuk, who is the Rare Disease Lead at Birmingham Children’s Hospital and is developing the Rare Disease Centre there. A blessing to her patients.
During the reception, a certificate of appreciation
for ‘Commitment to the rare disease community’ was presented to Lord Walton,
who at 93 years of age was an inspiration to us all, with his thank you speech!
If you are a resident of the UK you can invite
(email, tweet, facebook message, write) to your local MP inviting them to join
the APPG for rare, genetic and undiagnosed conditions and I urge every rare
disease patient to do this, as together the patient voice becomes much louder!
The reception was concluded by watching a very
moving film clip of a very brave young man called Drew, explaining about living
with CVID (Common Variable Immune Deficiency).
This made me think about my reality of having lived
with Ssc (scleroderma) and Raynaud's since 1997, aged 24, and although, rare diseases are
rare, the commonality which can be seen with all of the 6000-8000 listed rare
diseases is plain to see, namely:
- the need for an early diagnosis
- where no cure is available, evidence based treatment options ‘to plug in the gaps’, as Drew so aptly describes.
- find out what works and stick with it so that you can try and lead a life similar to a healthy person.
Currently there is no cure for Ssc or Raynaud's, just treatments which suppress the symptoms and of course, added unpleasant side effects.
I stopped taking my 2g daily dose of immunosuppressants (mmf) of the previous five years, on the same day I appeared in court as a practising barrister (1.3.2004) – 4months later I was back on my back and forced to make lifestyle choices to address the symptoms as opposed to returning to chemotherapy.
I changed my diet in 2012 and have seen a remarkable improvement in my symptoms by including daily fresh fruit and vegetables juices.
- raising awareness is key to improving the potential for better treatments and ultimately a cure.
- And, as Drew describes, the access to a clinical expert team is paramount for survival and optimum patient safety and care.
I am eternally grateful for the medical expertise of Dame Professor Black and the super human-being Professor Denton, whose commitment to the diagnosis and to his patients is my elixir, to keep on board ‘the rare disease patient-voice fun bus’, in the hope of being a patient voice for improvements across the full rare disease spectrum.
It is with huge thanks to Rare Disease UK for
providing the space to make this event happen, which is most definitely one of
the highlights of my rare disease patient journey of the last 19 years.
And of course, HUGE thanks and appreciation, for
the tireless work and dedication Rare Disease UK shows to the rare disease
patient community, providing the next best thing to a cure = HOPE.
An edited version of this article was published here, in my Column with Scleroderma News, March 2016.
Planning for the Future, Click here
Rare Disease Day 2019: Leaving a Legacy Gift, Click here
Rare Disease Day 2019: 11am 97.4RockFM headlines, NO CURE, Click here
 |
| This article was published on the Rare Disease Day website and the Rare Disease Day social media platforms. As well as, on the Rare Disease UK website here. |
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 UK reception at the House of Commons 2.3.16.
Rare Disease Day 2016.
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
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