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.
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.
October is Raynaud’s awareness month.
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.
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.
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
Read more about my 'tin-man like symptoms', here
To read about the miracle who is Alice from Switzerland who has had a double lung transplant, Click here
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.
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
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 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.
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.
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
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
2016 Rare Disease Day Patient Voice