Thursday, 27 April 2017

Rare Disease Day 2017: Unmet Medical Research Needs Raynaud's, Scleroderma, Autoimmune Rare Disease, Nicola Whitehill

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

Less than a week remains until Rare Disease Day, February 28th, the theme for which, this year, is research. In this article I discuss some of the many current unmet research needs of the systemic scleroderma and Raynaud’s patient.   

Clearly, a cure, combined with understanding to the disease cause, are the ultimate dream. 

#SclerodermaFreeWorld #RaynaudsFreeWorld.

In the meantime, there remains a huge medical need for improvement on current medications and treatments, which, are disease modifying agents at best. 

Sadly, they are not a true certainty that the patient will respond optimally, since no two patients are alike, presenting with the same set of symptoms.  

Here in the UK, we are extremely fortunate to have fantastic trail blazer medics and other scleroderma health professional experts, who, last year published the UK Scleroderma Treatment  Guidelines.

In my first article, about Rare Disease Day 2017, I focussed on the current research global landscape along with Government commitments to Rare Disease Strategies, including the UK Strategy and research investment.

If you live in the UK, Click here to download a letter drafted by Rare Disease UK, which can be sent to your MP.

Last year the Journal of Scleroderma and Related Disorders (JSRD) was launched at The Systemic Sclerosis World Congress 

Volume 1 Number 3 can be accessed, here

An article of particular interest, highlighting a clinical unmet need is ‘Gastrointestinal manifestations of systemic sclerosis’ discussed by Andrew B. Shreiner, Charles Murray, Christopher Denton, Dinesh Khanna.

The Abstract of which reads:

‘In patients with systemic sclerosis (SSc), gastrointestinal (GI)-tract involvement is almost universal. 

Any segment of the GI tract from mouth to anus can be involved, and GI symptoms are a frequent cause of morbidity. 

In several cases, GI-tract involvement can progress to the point of malnutrition requiring parenteral nutrition. 

GI-tract involvement in SSc contributes to disease-related mortality although mostly as a co-morbdity rather than direct cause of death.’  

I highlighted in 'My Skin is Cured from Scleroderma' article, as to, how my 
gastro-intestinal symptoms remain a challenge to me, which I have eased further to changing my diet. Read more, here

As I stated in my introduction, the unmet clinical needs of the scleroderma patient are plentiful, providing a plethora of avenues for further research and pharmaceutical company interest.

Often, these clinical unmet needs can be overlooked since they are not life threatening where time is a luxury. I wrote about 'The Importance of an Early Diagnosis', here

Systemic Scleroderma affects the entire body, targeting the body’s organs as well as the vascular, musculo-skeletal and connective tissue systems.  

Symptoms can often overlap with other autoimmune diseases, such as fatigue, mobility, pain and hair loss.

On Day 18 of Scleroderma Awareness Month Campaign 2016, I focussed on the contracture of the mouth, as well as the dental issues which systemic scleroderma can cause, in addition to sclerodactyl hands- where the fingers shorten and curl in on themselves. 

US patient Karen Baker has undergone two surgeries on her right hand. The first of which was to add bone from her wrist to reconstruct her fingers. 

The second surgery was to add 'artificial' knuckles. 

Karen says, ‘My hand's will never be perfect but I can use my right hand now. I now have much better blood flow to this hand and no more ulcers'. Read more, here  


Although calcinosis is not a direct life threatening symptom when comparing to severe internal organ involvement such as heart failure or renal crisis, it is a huge unmet, painful, need of the scleroderma patient.  

Currently, there are no adequate treatments or medications for calcinosis. 

Some patients report a marginal improvement when taking the antibiotic Minocycline, but personally, I saw no improvement. 

I have also spoken with patients who had undergone surgery for calcium removal, with the calcium only returning in time. I am not brave enough for this option being a reality for me!  


Telangiectasia, although not life threatening as such, can be extremely distressing to the patient due to the change in appearance of the skin. 

My face has taken on its own dot to dot puzzle, which has emerged over the course of the last ten years. 

I also have telangiectasia covering my trunk and the palm of my hands.  


Most scleroderma patients will experience symptoms relating to their musculoskeletal system, including their bones, and in some cases this can lead to osteoporosis. 

All of my joints are swollen, stiff, and painful. 

This includes my toes, feet, ankles, knees, hips, elbows, shoulder, neck, wrists, and hands. 

These symptoms are an overlap with rheumatoid arthritis.  

Some patients experience hypopigmentation (vitiligo), whereby skin patches can appear with the skin losing its natural coloring pigmentation.   


Scleroderma can also affect and alter the soft tissue in the body, with symptoms such as cellulitis, being an added extra, painful complication.   


Prevention is most certainly the way to manage these excrutiatingly painful wounds. 

Read more about digital ulcers, here, and DAY 24

By no way is this an exhaustive list of unmet clinical needs.  

I hope to have included the most frequently seen non-critical life threatening symptoms, but as I constantly emphasise,  

no two scleroderma patients present with the exact same set of symptoms  
This is a further demonstration of the desperate need and requirement for investment in clinical research.

Wishing you all a blessed Rare Disease Day, feeling good, living the dream, scleroderma style.

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

To read my articles: 

Rare Disease Day 2018, Research - Taking Part in Clinical Trials, Click here   

March Autoimmune Disease Awareness Month 2018, Click here   

Global patient video, Click here   

Becoming a Patient Research Ambassador for the NIHR, Click here  

If we only had more RESEARCH investment for Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here   

Scleroderma Awareness Month 2017 Patient Profiles Campaign, Click here     
Scleroderma Awareness Month 2017 Patient Profiles Campaign Patient Index, Click here        
The Pandora’s Box of the rare autoimmune disease Scleroderma, Raynaud's and Cancer, Click here

Key Event Dates 2018, 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, Click here    

World Scleroderma Day 29th June 2016, Click here

World Scleroderma Day 29th June 2017, Click here   

Why Global Collaboration is important to the Rare Disease Patient, Click here      

The theme to this years Rare Disease Day is Research

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   

2017 Rare Disease Day Flashback  

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. 

I highlighted other areas of medical research interest within Week 3 of my Patient Profiles Campaign for Scleroderma Awareness Month 2017. 


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: 

Early Diagnosis
Expert Specialist Centres
Access to Innovative Medicines

Where MEDICAL RESEARCH investment is VITAL.

Research is the key. Abstracts from 2016 World Congress, Click here

Scleroderma Awareness Month Campaign 2016, Click here


View video, here   

Preamble - here

The Family Day at the Scleroderma Unit, The Royal Free Hospital is taking place on the 19th May 2018. Browse the program, here

This year, I am celebrating 20 years of being a patient at this world leading expert specialist research centre. 

Sept 2017

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.
I am truly humbled and inspired by their work ethic. 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.
For latest updates follow: 

Facebook Page:

Twitter: @SclerodermaRF  @RaynaudsRf  

#SclerodermaFreeWorld           #RaynaudsFreeWorld
#ADAM #Scleroderma

Living the dream, scleroderma style.  

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: April 2018


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