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  

Calcinosis
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  


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.  
BONES, JOINTS, MUSCLES  
 

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



CELLULITIS  

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

DIGITAL ULCERS  

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. 



 
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    

 

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      


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
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  
 
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 
#RareDiseaseDay   

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. 

  
My article for Rare Disease Day 2016 was published on the Rare Disease Day website and the Rare Disease Day social media platforms.

 
 
Last Update: February 2019.




  

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