Friday, 28 April 2017

Autoimmune Disease Awareness Month, March 2017. Scleroderma, Raynaud's, Autoimmune Rare Disease. Nicola Whitehill.

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

Sadly, we know too well, that Scleroderma (Systemic Sclerosis) is classified as a Rare Disease    




February 28th was, Rare Disease Day Europe, and, Rare Disease Day US, with this year’s theme being ‘Research’. 

I wrote about how this impacts the scleroderma patient and rare disease patient, in general, here   


As well as, I wrote about the Scleroderma patients’ unmet clinical needs, here   


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’: 

‘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   


 




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: NIHR 'Research gives hope to Rare Disease patients', Click here  

  


 
Rare Disease Day 2019: Leaving a Legacy Gift, Click 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     

2017 Rare Disease Day Medical Research  


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.


To read about medical research at the scleroderma unit, Click here   

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:




supported by a medicaldream team’ 
(expert specialist as the clinical lead).

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  

2018 Scleroderma Awareness Raising and Medical Research, Click here    


SCLERODERMA:

Importance of an early diagnosis, Click here   
    
Taking Part in Clinical Research Trials, Click here     

The Importance of a Multi Disciplinary Medical ‘Dream Team’, Click here    

Expert Specialist Centres, Click here      
  
My Skin is Cured from Scleroderma, Click here   
    
UK Guidelines for Managing and Treating Scleroderma, Click here        

Fatigue, Click here         

Mobility, Click here      

Diet and nutrition, Click here      


Raynaud's- How to Diagnose, Click here        

'All you need to know', 2016 Awareness Video, Click here    

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   

 

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.  

Read more, here.    

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 2018, Click here  

World Scleroderma Day 2017, 29th June, Click here    

World Scleroderma Day 2016, 29th June. Origins of the date, Click 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.  

To view the presentation, Click here 

Raynaud's

October:  
Raynaud's, Click here  
 
To view the UK treatment guidelines for Raynaud’s Phenomenon, Click here   

To view the EULAR treatment guidelines, Click here    
To view Thermograph Video, Click here    

To view Thermograph image, Click here    

   
My Raynaud’s reality, Click here     


The global Raynaud's trailblazer - Dr Howell and I, Sept 2017

To view Nailfold Capillaroscopy equipment (used to identify possible blood vessel damage), Click here   

Invisible Disability Awareness Video, Click here

To read My ‘Invisible Disability’ experience, Click here   

50 Shades of Blue, Click here



 

For latest updates follow / subscribe:  

@SclerodermaRF 

@RaynaudsRf 

Twitter, Instagram, Blogger, YouTube, Facebook Page:

#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. 

  

  
Last Update: Feb 2020.       



Autoimmune Disease Awareness Month, March 2017.
Scleroderma, Raynaud's, Autoimmune Rare Disease. 



#RaynaudsFreeWorld #SclerodermaFreeWorld  









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