Sunday, 16 April 2017

Skin Tests, Scleroderma Raynaud's, Autoimmune Rare Disease - Nicola Whitehill


Skin Tests: 
Scleroderma Raynaud's, Autoimmune Rare Disease


 

The skin is the largest organ in the body and more often than not, will be affected by scleroderma, as the name ‘sclero’ - thickening, ‘derma’ - skin, implies. 

The exceptions are a SINE scleroderma diagnosis, as well as, a limited scleroderma diagnosis, could present with little or no skin involvement. 

Here is a visual from my June Scleroderma Awareness Month Campaign 2016



I wrote a more general article about skin involvement and the skin symptoms which I presented with in 1997, Click here

One of the usual diagnostic tests carried out to determine a scleroderma diagnosis is a skin biopsy. 

Other tests, include those which I discussed, here

I am delighted to have avoided a skin biopsy- an invasive painful test on my scleroderma tight sensitive skin, for 19 years now. 

However, the growing lump on my forehead of the last three years has been a cause for concern and intrigue, further to me being prone to calcium lumps, which is now one of my long term scleroderma symptoms. 

Although calcinosis is not as life threatening as organ damage, it can be extremely painful and contribute to organ damage. 

It is my view that calcinosis is one of the biggest unmet needs of the stable scleroderma patient. I discussed in more detail about calcinosis, here
 

 
The lump on my forehead appeared as most of my calcium lumps have appeared – pain and tenderness to the skin at the site of injury, and then gradual discolouration to a white-ish colour, similar to a spot. 

Although, they are actually a lot different to a spot, as spots can be squeezed and these lumps can not, and which, I have hours of experience of squeezing and prodding, and the scars to show for it.

The start of the red lump can just about be seen on this photo, which was used for Raynaud’s and Scleroderma awareness in The Daily Mail in 2013. View article, here



Further to the lump’s appearance I was referred to my local Dermatology clinic for an assessment and measurements to be taken. 

I was advised at this time, that a skin biopsy would be an option, in an attempt to identify more about the lump. 

However, due to my years of experience with calcium lumps, I chose to delay any invasive surgery, mindful that my skin does not repair as quickly upon injury, and another scar, this time on my face.

As well as, I am susceptible to infections due to 7 years of immunosuppressant use, even though I am now 12 years immunosuppressant free. 

Being a long term patient with a rare disease with no cure, and little known about the cause, has taught me that ‘prevention is most certainly better than cure’ especially when it comes to infections which may have been avoided, such as coughs and colds.

My gastro-intestinal system is still in recovery from having to have taken continuous antibiotics for my digital ulcers, prior to taking bosentan, along with the damage to my GI system caused by scleroderma. I wrote about my diet changes, here

As I stated above, I really am elated that I managed to get to year 19 of my diffuse scleroderma diagnosis without having to have a skin biopsy. 

And, I am extremely grateful to the Dermatologist Doctor, Dr Tiberiu Bontea, at Ormskirk General Hospital (my local Dermatology center) for his expertise and patience over the last 18months, whilst I plucked up the courage to have the procedure, as advised from the outset.

On the day of the procedure, I was very much comforted knowing that Dr Bontea had taken into account my scleroderma ‘special needs’ – tight skin and compromised blood supply combined with slow healing tissue repair issues, and so, he used a type of anaesthetic which would not cause extra contraction of my blood vessels (lignocaine).

The medical requirement of this procedure shows the importance and need of a ‘shared care multidisciplinary approach’ for best practice and care for the scleroderma patient. 

I wrote about the necessity of expert specialist centers, here 

The entire procedure took about 20minutes, with only slight discomfort at the point of entry of the needle administering the anaesthetic, lasting a minute or so. 

Dr Bontea kindly let me look at the ‘specimen’ which had been excised, prior to it being sent for further testing. It did not look like a calcium lump.

I am extremely grateful to Dr Bontea and the nurses for making the procedure as pleasant as it could be. 

As well as, I am very grateful for my fellow long term scleroderma survivor friend Leyla, for her support, when I was having to accept that the biopsy road was the only avenue available, and of course, Thank You to all of my facebook global scleroderma friends for your comments and support and for sharing your personal experience of this scleroderma ‘added extra’.



This photo was taken at the end of the procedure, and 4days later there is little change. 

In the meantime, I am under house arrest in an attempt to provide the best conditions for a ‘speedy’ healing recovery. 

Living the dream, scleroderma style, hoping for a cure.




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



RARE DISEASE DAY:
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. 

VIDEO



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

Links

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
#Raynauds
#RareDisease  

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.
#HOPE 


 

Last Update: April 2018







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