Saturday, 31 March 2018

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

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

An autoimmune disease is one where the body’s natural defence system, the immune system, malfunctions / ‘trips out’, resulting in the body attacking itself. 

The American Autoimmune Related Diseases Association Inc, AARDA, list there to be over 100 different, currently identified, autoimmune diseases. 




With the rare disease Scleroderma, the body’s autoimmune system becomes activated causing fibrosis / thickening to the skin, blood vessels, muscles, connective tissue, bones and internal organs. In essence, the ENTIRE body is attacked.    
 
Currently, this activation process, ‘on switch’, is still not fully understood, scientifically. And, sadly, neither is the ‘off switch’. Current treatments target symptom suppression, as opposed to disease eradication. 

Investment in medical research is crucial for progress in scientific understanding.   

Common presenting symptoms for most of the autoimmune diseases include, tiredness by way of extreme exhaustion, as well as, swelling and inflammation of the body of the joints, hairloss

And of course, PAIN. Making for the daily mantra ‘Ah great, another day to spend in bed’.    


 
These presenting symptoms can often lead to a slow diagnosis. Which, can lead to further complications, which maybe, potentially, life threatening.  
  
Another commonality which presides amongst the autoimmune disease community is the ‘Invisible Disability’ label. 



For, most autoimmune patients, and scleroderma patients alike, hearing ‘But you look so well’ is a welcome compliment, however, it can be extremely frustrating, when the actual reality, is that, you feel quite the opposite.  

Hottest day of 2013, Im wearing Uggs and gloves
Some patients have told me of their frustration of not being believed as to the severity of their ‘invisible symptom’, not just by their families, but also by the medical professionals, with whom they have seen.  

    
 
A common symptom seen within the autoimmune disease community, is the presence of Raynaud’s phenomenon

However, not all Raynaud’s patients will have an autoimmune condition, this is when it is known as primary Raynaud’s.  

When Raynaud’s presents with another condition, eg. an autoimmune disease, it is known as secondary Raynaud’s.  

Throughout the course of March, for Autoimmune Disease Awareness Month, I have been reposting the global patient profiles from my scleroderma awareness 2017 campaign.   

ALL of the patients, who kindly took part, reported experiencing Raynaud’s, along with, digital ulcers, being a foregone conclusion. 



All of the patients reported exhaustion, swelling and pain to be current ongoing unmet clinical needs.   

 
The British Society for Rheumatology, BSR, has a clear strategy to try and improve the current treatment for such patients: 


‘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, Beh├žet’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). ’


The BSR recommends that:

‘This group of patients can be best served, along with the implementation of the UK Rare Disease Strategy by being 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

-        multisystem nature of these conditions, often requires simultaneous care across several specialties. Multidisciplinary ‘one-stop-shop’ clinics enabling greater cost efficiency and clinical effectiveness

-        In common with other rare diseases, these conditions are also slow to benefit from therapeutic advances.'  




I had the pleasure and honour to present the ‘Raynaud’s and Scleroderma patient’s reality’ at the BSR Conference in 2015.
BSR 2018 Conference, 1st – 3rd May, Liverpool, UK.
BSR published Scleroderma Management Guidelines, June 2016. 

Huge thanks to the current president, Dr. Peter Lanyon, for his outstanding commitment to the rheumatological community as a whole.


Future key events for this year, 2018, include the Family Day  at The Scleroderma Unit, 19th May, which this Scleroderma Olympian is already in training for!  


  
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.
However, for best practice and care:
Where MEDICAL RESEARCH investment is VITAL.
Living the dream, scleroderma style.  
 
Please DONATE where 100% of your donation will be used for medical research purposes only.  Thank You.  
#SclerodermaFreeWorld #RaynaudsFreeWorld
Follow Raynauds Scleroderma Awareness Global Patients Facebook Page for latest updates 
Twitter: @SclerodermaRF @RaynaudsRf   

An edited version of this article was published here in my Column with Scleroderma News.
March 2018. 


This video shows all of the global patients who kindly shared their Scleroderma, Raynaud’s, autoimmune Rare Disease experience for awareness purposes:
Autoimmune Disease Awareness Month 2018
Scleroderma Awareness Month 2017
#SclerodermaFreeWorld #RaynaudsFreeWorld

To Read My Articles: 
2019: Leaving a Legacy Gift, Click here  
2018: Research.   
 
Rare Disease Day 2018 – Research, Taking Part in Clinical Trials. Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here     

2017 Rare Disease Day Flashback  
 
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.
 
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).

Where, investment in medical research is crucial, to improve the day to day reality, as well as, the long term outlook for the entire global scleroderma community. 
 
To read my articles:
 
Becoming a Patient Research Ambassador for the NIHR, 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      


Sept 2017

Prof Chris Denton and I, Sept 2017
 
This year, 2019, I am celebrating 21 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 diagnosing doctor, that I was looking at a 15month prognosis.  

 
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     
 
 
The annual Family Day at the Scleroderma Unit, The Royal Free Hospital, is taking place on the 18th May 2019. Browse the program, 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 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  
 
To read My ‘Invisible Disability’ experience, Click here  

  


Facebook Page: Raynauds Unit Royal Free Hospital
  
Twitter: @RaynaudsRf 

 

 
 

 
For latest updates follow: 
 
  
Facebook Page:
Twitter: @SclerodermaRF  @RaynaudsRf  
#SclerodermaFreeWorld           #RaynaudsFreeWorld    #Research
#ADAM #Scleroderma #Raynauds #RareDisease  #RareReality #ShowYourRare 
#RareDiseaseDay   

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. Thank You. 

  

  
 
Last Update: March 2019.