Monday, 10 April 2017

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

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
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.

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 about '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 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. 

To view the importance of Expert Specialist Centers
To view the BSR and BHPR guidelines for Systemic Sclerosis treatment and management click here
Please DONATE to help fund medical research at the Scleroderma Unit where 100% of your monies will be used for research only.
An edited version of this article can be found here on the RareDiseaseUK website

Living the dream, scleroderma style, hoping for a cure
#SclerodermaFreeWorld #RaynaudsFreeWorld 
April 2017 

Nicola Whitehill 30.11.16 'My skin is cured from scleroderma' 19 years post diagnosis
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