Wednesday, 22 February 2017

Rare Disease Day 2017 - Research, Raynauds, Scleroderma

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

#RaynaudsFreeWorld #SclerodermaFreeWorld 

 

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. 
Namely:  

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. 

Please check the corresponding Facebook links out:
 

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. 

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  

#SclerodermaFreeWorld 
#RaynaudsFreeWorld




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: 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     

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

#RaynaudsFreeWorld #SclerodermaFreeWorld 








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