Friday 2 March 2018

Rare Disease Day 2018. Research, Taking Part in Clinical Trials. Scleroderma, Raynaud's, Autoimmune Rare Disease. Nicola Whitehill.

Rare Disease Day 2018: Research, Taking Part In Clinical Trials. 
Scleroderma, Raynaud's, Autoimmune Rare Disease. 

#RaynaudsFreeWorld #SclerodermaFreeWorld 

Today, February 28th, is Rare Disease Day. 


This year’s theme is Research.   

Living with a rare disease is daunting in every way imaginable. Having been a diffuse scleroderma, rare disease patient for 21 years, in my view, Research provides immense hope.     

Hope that the desperately needed understanding as to cause and cure will be discovered. With an improvement in medicines, being a soother in the meantime.    
Rare Disease Day provides a spotlight for the rare disease community to come together. 

So, what is a rare disease?
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. 
There are 2.5 million scleroderma patients worldwide, as by The World Scleroderma Foundation

The Role of Medical Research to the Rare Disease Patient, plays a pivotal role in improving the rare disease patient experience.  

This year’s theme of Research focusses on how important the patient is, to the entire medical research arena.  
Including, clinical trials, from the design to the actual live participation.   
During the course of the last few decades, I have taken part in several clinical research trials.   
I am not the most willing of participants for taking any kind of drug, especially not licensed drugs. However, for medical research clinical trial purposes, all ‘mystery’ medications have undergone rigorous testing, prior to reaching the clinical trial stage of testing on humans. Although, this does not eliminate every or any potential risk of taking the drug.    

For a new medication to reach the market place, strict criteria must be met for the medication to become licensed for the indications which it represents. This is where the design of the clinical trial is imperative with its detail.   
In 2015 I became a patient expert adviser with The European Medicines Agency.  
I very much enjoy this role   
I have taken part in various  Scientific Advice Working Party SAWP and Committee for Orphan Medicinal Products COMP meetings.     
It is very exciting for me to see in this setting, the increase in pharmaceutical interest for scleroderma patients.   
I have been involved with many clinical trial design set ups with chemical substances which only have a number, and have not even been named yet.    
In relation to the clinical trial design for scleroderma patients- ALL clinical trial assessment criteria now includes digital ulcer involvement, further to my insistence!   
I am delighted to have recently become a Patient Research Ambassador for the Dermatology and Musculoskeletal departments at The Royal Free Hospital.

There are many clinical trials currently taking place at the Scleroderma Unit.  

The Christmas 2017 newsletter gives a summary of Research progress so far at the Scleroderma Unit. 

All of the trials which I have participated in, have been conducted at the Unit.  

Sadly, there remains many unmet clinical needs to the scleroderma patient.    

The Pandora’s Box continues to present challenging surprises, making my symptom management a full time job.    

This year’s Scleroderma Family Day is to be held on Saturday 19th May in the atrium at the Royal Free Hospital. To view the program, click here.  
I am very much hoping to attend this year's family day, as I am celebrating my 20th year anniversary of being a patient at the Unit. 

This Scleroderma Olympian is already in training, currently in full time hibernation. 
Unfortunately, I will not be attending the Rare Disease UK Parliamentary Reception, this year. 

However the 2016 parliamentary reception still remains one of my few patient highlights.  

The UK has a Strategy for Rare Disease. 
2017 Rare Disease Day Flashback   
I discussed other areas of medical research interest within Week3 of my Patient Profiles Campaign  for Scleroderma Awareness Month 2017, Flashback  

As well as, highlighting the need for RESEARCH investment.   

The 'rare disease' label can often feel like a bleak and lonely existence.
Although rare disease patients are few in number, eg. 2.5 million scleroderma patients worldwide (as by the World Scleroderma Foundation), the commonalities and golden hallmark for each rare disease patient are the same:

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

Where MEDICAL RESEARCH investment is VITAL to improving the entire rare disease landscape, including, the rare disease patient's day to day reality. 
Thereby, unlocking the rare disease enigma. 
Living the dream, scleroderma style. 

Please DONATE to help fund medical research at The Scleroderma Unit,The Royal Free Hospital, London where 100% of all of your monies will be used for medical research purposes only. Thank You.  

Wishing you a very happy Rare Disease Day, feeling good. 
#SclerodermaFreeWorld #RaynaudsFreeWorld  #HOPE
Follow Raynauds Scleroderma Awareness Global Patients Facebook Page for latest updates 

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


Scleroderma Family Day 2020

25th Anniversary Meeting

The Atrium, Royal Free Hospital, London, NW3 2QG

Chair: Professor Chris Denton


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  

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. 


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    


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, 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:  



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 2018: Research, Taking Part In Clinical Trials. 
Scleroderma, Raynaud's, Autoimmune Rare Disease. 

#RaynaudsFreeWorld #SclerodermaFreeWorld 

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