Thursday, 5 April 2018

Rare Disease Day 2016, Scleroderma, Raynaud's, Autoimmune Rare Disease

Rare Disease Day 2016. Patient Voice.

Scleroderma, Raynaud's, Autoimmune Rare Disease. 

#RaynaudsFreeWorld #SclerodermaFreeWorld 



I am very excited to make Rare Disease Day 2016 the focus of my first post for Scleroderma News.  


 
What is Rare Disease Day? 
 
Eurordis.org:   
‘Held each year on the last day of February, Rare Disease Day is an annual awareness-raising event coordinated by EURORDIS.  
 
The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. 

The campaign targets the general public and also seeks to raise awareness amongst policy makers, public authorities, industry representatives, researchers, health professionals and everyone with an interest in rare diseases.  

Since Rare Disease Day was first launched by EURORDIS and its Council of National Alliances in 2008, thousands of events have taken place throughout the world, reaching hundreds of thousands of people and resulting in a great deal of media coverage. 

The political momentum resulting from Rare Disease Day also serves advocacy purposes. It has notably contributed to the advancement of national plans and policies for rare diseases in a number of countries.  

Even though the campaign started as a European event, Rare Disease Day has progressively become a worldwide phenomenon, with the USA joining in 2009, and patient organisations in 85 countries around the world participating in 2015. Our objective is for the World Health Organization to recognise the last day of February as the official Rare Disease Day.’ 

I was deeply honoured for Eurordis to have included my “Living with scleroderma” story within their first e-newsletter of 2016, as well as to feature it on their website. 

Read the full article here.   

 
Systemic Sclerosis: A Rare Disease   
 
Systemic sclerosis (SSc), scleroderma, is a rare multisystem systemic autoimmune disease affecting the connective tissue of the skin, blood vessel wall, and internal organs, and is capable of causing a wide range of tissue damage mediated mainly via microvascular injury and excessive fibrotic response.  
 
The most common vascular manifestation of SSc is Raynaud’s phenomenon due to excessive vasoconstriction, but more marked vascular involvement resulting in digital ulceration occurs at some point in up to 55% of SSc patients.   

Diffuse cutaneous SSc differs from the limited SSC by the extent of skin involvement, specific auto antibodies and worse prognosis.  

(References 1. Ferri C, Valentini G, Cozzi F et al. Systemic sclerosis: demographic, clinical and serologic features and survival in 1,012 Italian patients. Medicine (Baltimore) 2002; 81:139-53. 2. Khimdas S, Harding S, Bonner A et al. Associations with digital ulcers in a large cohort of systemic sclerosis: results from the Canadian Scleroderma Research Group registry. Arthritis Care Res 2011; 63:142-9).  

Organ involvement includes skin (telangiectasias, Raynaud’s symptoms, digital ulcers, gangrene, fibrosis), kidney (up to renal crisis), heart (cardiomyopathies, CHF, arrythmis), interstitial lung disease (fibrosis) and PAH, joint tenderness, oesophageal and GI tract motility disturbances leading in severe cases to malabsorption and pseudo-obstruction.  

The disease is devastating, with 30-50% 5-year mortality, 60-80% 10-year mortality, depending on organ involvement (especially lung). An updated ACR/EULAR classification for diagnosis was published in 2013 (Frank van den Hooge et al.Ann Rheum Dis;  2013).  

Currently, there is no approved medical treatment available to prevent the vascular and fibrotic damage in patients with SSc and the treatment is symptomatic.  

Rare Disease Day is a fantastic opportunity to bring rare disease patient communities together across the globe.   


Global collaboration is key to deciphering the rare disease trigger and the treatment codes.  

The UK scleroderma facebook family, in recognition of Rare Disease Day posted their real life photos to be grouped together, for a poster in support of the Rare Disease Day awareness campaign to give a snap shot and visual aid as to the true reality of living with this rare disease.  

 
Rare diseases at a glance:  
 
According to Eurodis: A rare disease, also referred to as an orphan disease, is any disease that affects a small percentage of the population.  

Most rare diseases are genetic, and are present throughout a person’s entire life, even if symptoms do not immediately appear. In Europe a disease or disorder is defined as rare when it affects less than 1 in 2000 citizens.  

Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease. (Particularly so, with scleroderma and Raynaud’s).  

Relatively common symptoms can hide underlying rare diseases, leading to misdiagnosis. (Particularly so, with scleroderma and Raynaud’s).  

FACT SHEET  

According to the European Medicines Agency: about 30 million people living in the European Union (EU) suffer from a rare disease.  

Rare diseases are defined as life-threatening or chronically debilitating conditions that affect no more than 5 in 10,000 people in EU. This is equivalent to around 250,000 people or less for each disease.  

This equates to approximately 3.5 million people in the UK and 30 million people across Europe, as by raredisease.org.uk,  
 
‘In the UK, a single rare disease may affect up to about 30,000 people. The vast majority of rare diseases will affect far fewer than this – some will affect only a handful, or even a single person in the whole of the UK.  

80% of rare diseases have a genetic component. Rare diseases can be single gene, multifactorial, chromosomal or non-genetic due to degenerative and proliferative causes.  

75% of rare diseases affect children, and 30% of rare disease patients die before their fifth birthday.’  

Medical and scientific knowledge about rare diseases is lacking. The number of scientific publications about rare diseases continues to increase, particularly those identifying new syndromes. However, fewer than 1,000 diseases benefit from even minimal amounts of scientific knowledge. These tend to be the rare diseases that occur most frequently.  

The European Medicines Agency ‘plays a central role in the development and authorisation of medicines for rare diseases. These medicines are termed ‘orphan medicines’ in the medical world.  

Since the pharmaceutical industry has little interest, under normal market conditions, in developing and marketing medicines intended for small numbers of patients, the EU offers a range of incentives to encourage the development of these medicines.  

The EU’s Seventh Framework Programme for Research and Technological Development (FP7), ran between 2007 and 2013, boosting research into rare diseases.  

Its first phase focused on innovative and multidisciplinary projects investigating non-infectious, non-cancer rare diseases.  

This knowledge provides the basis for future development of new approaches to diagnose, treat and prevent rare diseases’.  

I hope that I have given a brief-ish synopsis as to the concept of Rare Disease Day and the descriptive elements of having a rare disease. 

 
References:  




 



An edited version of this article was published here, in my Column with Scleroderma News. 
Feb 28th 2016. 

I was elated to see the official Rare Disease Day social media platforms feature my article. 
 
My article for Rare Disease Day 2016 was published on the Rare Disease Day website and the Rare Disease Day social media platforms. 


  

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 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.


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.       



Rare Disease Day 2016. Patient Voice.

Scleroderma, Raynaud's, Autoimmune Rare Disease. 

#RaynaudsFreeWorld #SclerodermaFreeWorld 









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