Monday, 10 April 2017

The Importance of an Early Diagnosis and Medical Research to the Raynaud's Scleroderma, Rare Disease patient- Nicola Whitehill

The Importance of an Early Diagnosis and Medical Research
to the Scleroderma, Raynaud’s, Autoimmune Rare Disease Patient 

Living with a rare disease, is quite frankly, a most daunting experience in every way imaginable. 

The mystery of the biological cause combined with ‘hit and miss’ medication options, due to there being no known cure, makes for 'Hope' being a permanent companion, to the rare disease patient.

Sadly, the current data shows that most rare disease patients will wait on average at least 5 years before receiving a diagnosis. In relation to my diagnosis of Scleroderma (systemic sclerosis) and Raynaud’s, this length of time would have most definitely caused irreversible life threatening damage to my body. 

Scleroderma is a chronic autoimmune disease which affects the connective tissue and vascular systems of the body.

Raynaud’s is the constriction of blood vessels throughout the body, most usually at the extremities (hands and feet), causing discoloration and intense pain. 

Currently, there is no known cause or cure to either Scleroderma or Raynaud’s. 

Treatment options are targeted at symptom suppression. In my situation, I have Raynaud’s secondary to Scleroderma. Raynaud’s can also present on its own without any other medical condition. 

October is Raynaud’s awareness month.

I consider myself to be a lucky rare disease patient in that I only waited a matter of months for my symptoms of tight puffy skin, swollen joints and blue fingers, to be interpreted into a diagnosis, following a specific blood test. 

I must admit, I have had much better days than that autumnal day in 1997, aged 24. 

However, the diagnostic label did provide relief, to finally know what was happening to my body. 

Intense immunotherapy and chemotherapy agents were started, with an initial prognosis of 15months due to the severity of my symptoms and the aggression of the disease. 

After a year of taking this toxic pharmaceutical combination with little symptom improvement, I swapped my medical care to the Scleroderma Unit expert centre at the Royal Free hospital in London, which was then headed up by Dame Prof Carol Black, now Prof Chris Denton, and to whose medical expertise I am eternally grateful for.

Two ‘very critical’ years followed. My symptoms finally stabalised following a further six years of chemotherapy infusions, combined with immunosuppressant agents. 

I am now delighted to be 13 years chemotherapy free, although, my entire lifestyle and quality of life has been totally turned upside down due to my diagnosis. 

Read more, Click here 

I consider myself to be a 'lucky' scleroderma patient in that I have minimal internal organ damage. My Gastro-intestinal system and musculo-skeletal system have been affected the most. 

Read more about my 'tin-man like symptoms', here

Some patients experience irreversible internal organ damage which could be life threatening or the patient may require an organ transplant as a final option. I am extremely grateful that this is not my reality. 

Clearly, an early diagnosis is essential to prevent life threatening damage

To read about the miracle who is Alice from Switzerland who has had a double lung transplant, Click here

Medical research provides huge hope to the rare disease patient. 

The hope being that a medic / scientist will have the ‘eureka’ moment to identify why the body is doing what it is doing, put a stop to it and press the reset button for a return to wellbeing and the ability to live ‘a normal life’, which is not ruled by medical appointments and symptom demands. As is, my current reality.

Medical research can be painstakingly slow due to various factors. 

This includes low numbers of rare disease patients eligible to take part, posing a difficulty for sound, scientific, statistically significant conclusions to be drawn. 

This could be improved for the rare disease patient, by way of expert centers from around the globe collaborating together with their medical research. 

The Eurordis European Reference Networks (ERNs) initiative supports this method of collaboration. 

In my view, there is a best practice duty owed to the rare disease patient for medical research global collaboration. 

To view my post 'Why Global Collaboration is so Important to the Raynaud's Scleroderma patient', Click here

During last year’s bi-annual World Systemic Sclerosis congress, The Journal of Scleroderma and Related Disorders, (JSRD), was launched. 

This is a most welcome advancement for progress to the Scleroderma patient, whilst waiting for a much needed improvement in treatment options, and of course a cure. 

I wrote about Volume 1 Number 1 and 'the importance of medical research to the Raynaud's Scleroderma patient' here, as well as, 'taking part in a clinical trial', here.

I discussed the contents of Volume 1 Number 2, here

On a personal level, it is unlikely that the discovery of the cure for Scleroderma will be of much assistance to me, since I am now living with the damage which the Scleroderma, when at its most aggressive and active, has caused. 

However, this does not make me less hungry for wanting to see this disease designated extinct with a scleroderma-free-world being a reality.

It must also follow that the newer, more innovative medications and treatments must be made available to the rare disease patient immediately, in an attempt to achieve the rare disease patients’ best outlook and outcome. 

The importance of Expert Specialist Centers, Click here

To view the BSR and BHPR guidelines for Systemic Sclerosis treatment and management, Click here

An edited version of this article was published here, on the Rare Disease UK website
October 2016. 

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  

More unmet clinical needs  

Rare Disease Day 2016

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. Thank You. 


Last Update: April 2018

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