Rare
Disease Day 2017: Unmet Medical Research Needs.
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
Less than a week
remains until Rare Disease Day,
February 28th, the theme for which, this year, is research. In this
article I discuss some of the many current unmet research needs of the systemic
scleroderma and Raynaud’s patient.
Clearly, a cure,
combined with understanding to the disease cause, are the ultimate dream.
#SclerodermaFreeWorld #RaynaudsFreeWorld.
In the meantime, there remains a huge medical need for improvement on
current medications and treatments, which, are disease modifying agents at
best. #SclerodermaFreeWorld #RaynaudsFreeWorld.
Sadly, they are not a true certainty that the patient will respond optimally, since no two patients are alike, presenting with the same set of symptoms.
Here in the UK, we
are extremely fortunate to have fantastic trail blazer medics and other
scleroderma health professional experts, who, last year published the UK
Scleroderma Treatment Guidelines.
In my first article, about Rare Disease Day 2017, I
focussed on the current research global landscape along with Government
commitments to Rare Disease Strategies, including the UK Strategy and research investment.
If you live in the
UK, Click here
to download a letter drafted by Rare Disease UK,
which can be sent to your MP.
An article of
particular interest, highlighting a clinical unmet need is ‘Gastrointestinal
manifestations of systemic sclerosis’ discussed by Andrew B. Shreiner, Charles
Murray, Christopher Denton, Dinesh Khanna.
The Abstract of which
reads:
‘In patients with
systemic sclerosis (SSc), gastrointestinal (GI)-tract involvement is almost
universal.
Any segment of the GI tract from mouth to anus can be involved, and GI symptoms are a frequent cause of morbidity.
In several cases, GI-tract involvement can progress to the point of malnutrition requiring parenteral nutrition.
GI-tract involvement in SSc contributes to disease-related mortality although mostly as a co-morbdity rather than direct cause of death.’
Any segment of the GI tract from mouth to anus can be involved, and GI symptoms are a frequent cause of morbidity.
In several cases, GI-tract involvement can progress to the point of malnutrition requiring parenteral nutrition.
GI-tract involvement in SSc contributes to disease-related mortality although mostly as a co-morbdity rather than direct cause of death.’
I highlighted in 'My
Skin is Cured from Scleroderma' article, as to, how my gastro-intestinal
symptoms remain a challenge to me, which I have eased further to changing my
diet. Read more, here
As I stated in my introduction, the unmet clinical needs of the scleroderma patient are plentiful, providing a plethora of avenues for further research and pharmaceutical company interest.
As I stated in my introduction, the unmet clinical needs of the scleroderma patient are plentiful, providing a plethora of avenues for further research and pharmaceutical company interest.
Often, these clinical
unmet needs can be overlooked since they are not life threatening where time is
a luxury. I wrote about 'The Importance of an Early Diagnosis', here
Systemic Scleroderma affects the entire body, targeting the body’s organs as well as the vascular, musculo-skeletal and connective tissue systems.
Systemic Scleroderma affects the entire body, targeting the body’s organs as well as the vascular, musculo-skeletal and connective tissue systems.
Symptoms can often
overlap with other autoimmune diseases, such as fatigue,
mobility,
pain and hair loss.
On Day 18 of Scleroderma Awareness Month Campaign 2016, I focussed on the contracture of
the mouth, as well as the dental issues which systemic scleroderma
can cause, in addition to sclerodactyl hands- where the fingers shorten
and curl in on themselves.
US patient Karen Baker has undergone two surgeries on her right hand.
The first of which was to add bone from her wrist to reconstruct her fingers.
The second surgery was to add 'artificial' knuckles.
The second surgery was to add 'artificial' knuckles.
Karen says, ‘My hand's
will never be perfect but I can use my right hand now. I now have much better
blood flow to this hand and no more ulcers'. Read more, here
Calcinosis
Although calcinosis
is not a direct life threatening symptom when comparing to severe internal
organ involvement such as heart failure or renal crisis, it is a huge unmet,
painful, need of the scleroderma patient.
Currently, there are
no adequate treatments or medications for calcinosis.
Some patients report a marginal improvement when taking the antibiotic Minocycline, but personally, I saw no improvement.
I have also spoken with patients who had undergone surgery for calcium removal, with the calcium only returning in time. I am not brave enough for this option being a reality for me!
Some patients report a marginal improvement when taking the antibiotic Minocycline, but personally, I saw no improvement.
I have also spoken with patients who had undergone surgery for calcium removal, with the calcium only returning in time. I am not brave enough for this option being a reality for me!
TELANGIECTASIA
Telangiectasia,
although not life threatening as such, can be extremely distressing to the patient
due to the change in appearance of the skin.
My face has taken on its own dot to dot puzzle, which has emerged over the course of the last ten years.
I also have telangiectasia covering my trunk and the palm of my hands.
My face has taken on its own dot to dot puzzle, which has emerged over the course of the last ten years.
I also have telangiectasia covering my trunk and the palm of my hands.
BONES, JOINTS,
MUSCLES
Most scleroderma
patients will experience symptoms relating to their musculoskeletal system,
including their bones, and in some cases this can lead to osteoporosis.
All of my joints are
swollen, stiff, and painful.
This includes my toes, feet, ankles, knees, hips, elbows, shoulder, neck, wrists, and hands.
These symptoms are an overlap with rheumatoid arthritis.
This includes my toes, feet, ankles, knees, hips, elbows, shoulder, neck, wrists, and hands.
These symptoms are an overlap with rheumatoid arthritis.
SKIN
DISCOLORATION
Some patients
experience hypopigmentation (vitiligo), whereby skin patches can appear with
the skin losing its natural coloring pigmentation.
CELLULITIS
Scleroderma can also
affect and alter the soft tissue in the body, with symptoms such as cellulitis,
being an added extra, painful complication.
DIGITAL ULCERS
Prevention is most
certainly the way to manage these excruciatingly painful wounds.
By no way is this an
exhaustive list of unmet clinical needs.
I hope to have
included the most frequently seen non-critical life threatening symptoms, but
as I constantly emphasise,
This is a further demonstration of the desperate need and
requirement for investment in clinical research.
no two scleroderma patients present with the exact
same set of symptoms
Wishing you all a
blessed Rare Disease Day, feeling good, living the dream, scleroderma style.
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: Unmet Medical Research Needs.
Scleroderma,
Raynaud's, Autoimmune Rare Disease.
#RaynaudsFreeWorld
#SclerodermaFreeWorld
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