Wednesday, 26 April 2017

Rare Disease Day, February 28th 2017: Medical Research. Raynaud's, Scleroderma, Autoimmune Rare Disease

Rare Disease Day 2017: Medical Research.
Scleroderma, Raynaud's, Autoimmune Rare Disease.

Only a few weeks remain until this year’s Rare Disease Day, February 28th.   

The theme for this year is ‘Research’, which is a most welcome topic to the global Raynaud’s and Scleroderma patient.   

Investment in medical research provides immense hope and some comfort, to the rare disease patient living with a currently, incurable, diagnosis.  

Last year, I made the focus of Rare Disease Day 2016:  

– Making the voice of the patient be heard -  

the focus of my first article  for my ‘Living the Dream, Scleroderma Style’ Column at Scleroderma News. 
A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000. 
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time. 

In May 2016 I had the pleasure to co-present with the lovely Aortic Dissection survivor, Timo Soderlund from Sweden, and Rob, from RareConnect on ‘How to start an awareness day for your rare disease’. 
View Video, here  

At 43minutes in, I discuss meeting the needs of the rare disease patient. 

Early diagnosis, to prevent life threatening damage therefore increasing life survival  

Education and Awareness, with a holistic approach from a multidisciplinary medical healthcare specialist center  

Research and Development investment with immediate access to innovative treatments 

Specialist Centres are essential for best practice in managing the medical needs of the rare disease patient 

The Rare Disease Day website states:
   '80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative. 

Over 6000 rare diseases are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. 

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. 
Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.’  

These statistics highlight the magnitude of combating the rare disease plight. 
However, although there are currently 6000 – 8000 identified named rare diseases, they all bare the same hallmarks, whereby an early diagnosis and access to innovative medicines is crucial to increase survival rates.
I have previously written about the importance of an early diagnosis, Click here
As well as, the importance of the importance of expert specialist centres, Click here
This is particularly relevant to the Raynaud’s and Scleroderma patient where no two patients present with exact identical symptoms, making for a medical diagnostic and treatment challenge to the healthcare practitioner, and a journey of anxiety and hope to the patient. 

However, as I highlighted in a previous article, The Role of Medical Research, the landscape for the Raynaud’s and Scleroderma patient in relation to medical research, has never looked so encouraging. 
This is particularly enhanced by the launch of the Journal of Scleroderma and Related Disorders (JSRD) at the 4th Systemic Sclerosis World Congress. Read more, here 

There is just a year left until the 5th Systemic Sclerosis World Congress to be held in Bordeaux, France.
It is my current BIG goal / personal challenge to be physically able to move this 'tin man' body, out of hibernation, to attend the 5th Systemic Sclerosis World Congress.
However, I must be realistic, as I have been wanting to attend all of the previous World Congress meetings, but sadly, the physical exertion of travelling, combined with a few days away from my home comforts (bed/ couch / dream team) has been too much to even contemplate.
However, this year, other than my medical appointments and any APPG Rare Disease meetings, my time this year, is dedicated to getting this body into training to try and realise the World Congress attendance dream, in a year. 
I wrote about The Raynaud’s, Scleroderma Olympian, here
Here in the UK, the Government has committed to implementing the UK Strategy for Rare Diseases by 2020. To view the document, Click here
I will be writing more about this and the significance to the Raynaud’s and Scleroderma patient in due course. 
Other - European policies, and, USA policies.
Sadly, this year I will not be in attendance at the Rare Disease UK Parliamentary reception, at the Houses of Parliament (my favourite place). 
Having attended last year, this experience still remains one of my few patient highlights of the last 20 years. Read more, here

I was delighted to have had my article included on the official Rare Disease Day 2016 press site as well as, my article was shared on the official Facebook page.

Here is the link to the official Rare Disease Day 2017 video.
I think that this video is a fantastic reflection of the rare disease patient’s faith placed in the hope, which medical research brings.
To keep up to date with events, please follow the Rare Disease Day updates at Scleroderma News, and, follow my ‘Raynauds Scleroderma Awareness Global Patients’ Facebook Page.

Due to the necessary requirement for funds for medical research I have set up the following Just Giving Page for Raynaud’s medical research at the Raynaud’s Unit, The Royal Free Hospital, as well as, Scleroderma medical research at the Scleroderma Unit. 
100% of any donation will be used to fund medical research led by Prof Chris Denton and Dr Kevin Howell – both super geniuses in this niche rare disease, medical field, and whom, share the same dream #SclerodermaFreeWorld #RaynaudsFreeWorld.
Please check the corresponding Facebook links out:
We have to find that cure and better, improved treatments…..Let’s tell the world about the rare disease of scleroderma on Rare Disease Day 2017….   

Living the dream, scleroderma style  


An edited version of this article was published here, in my Column with Scleroderma News. February 2017. 

2019 theme: Bridging Health and Social Care. 
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    



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

March 2018 Autoimmune Disease Awareness Month, Click 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, 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 

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: February 2019.

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