Life as a Raynaud’s, Scleroderma, Rare Disease Patient Advocate
Living with a rare disease brings many challenges, along with becoming an expert on your own medical condition. The rare disease patient’s Holy Grail is to actually receive a diagnosis whereby a treatment care plan then can be put together and, at best, will be focused on symptom suppression, since there is no cure.
I always have considered myself to be a “lucky” scleroderma patient, in that I have minimal internal organ damage, with my gastrointestinal system and my musculoskeletal systems taking the biggest hit. My diagnosing doctor told me back in 1997 that I would be in a wheelchair by Christmas (three months away, at that time), that I was looking at 15 months as a prognosis, and to give up my idea of being a barrister (professional advocate). He then prescribed me a cocktail of immunosuppressants and steroids. (I described this in a previous column).
A year later, I changed my medical care to that of the global expert and trailblazer, Professor Chris Denton at The Royal Free Hospital in London. Almost 18 years to the day from when I first dragged my painful, stiff, tired and swollen body there, Professor Denton confirmed to me that my skin is cured from scleroderma.
However, it really is a full-time job to manage my symptoms, with me using all of my “spare time” devoted to the Raynaud’s and scleroderma awareness plight.
Educational and informative
I have been writing my column here at Scleroderma News for a year. As I detailed at the outset, it was, and remains, my intention to make the content of my articles educational and informative, from not just the Raynaud’s-scleroderma patient perspective, but also from the rare disease patient’s perspective in general, along with being a voice for patients by presenting the true reality of our daily experience of living with this body hijacker. I very much hope I have achieved this.
During the first few years of having been told those three words, “You have scleroderma,” I was not overtly fluent at speaking about the disease, and was more focused on having my head in law books so that I could pass my exams. I occasionally would give radio or magazine interviews, usually further to the persuasion from Anne Mawdsley OBE, the president of the Raynaud’s and Scleroderma Association, as it was then. Sadly, Anne is no longer with us, having lost her 30-year battle with Raynaud’s and scleroderma in 2014.
The entire global Raynaud’s and scleroderma community are extremely grateful to Anne for her tireless fundraising and awareness raising, and for all that she did to improve the lives of patients with this disease. Last year, I started my Raynauds Scleroderma Awareness Global Patients’ Facebook page in Anne’s memory.
During the summer of 2013, my incognito status came to a sudden end by way of me sharing my “tin man-like” symptoms.
Although this aspect to scleroderma puts me under house arrest, along with my Raynaud’s super-sensitivity, I have been actively following and participating in the work of the APPG on Rare, Genetic and Undiagnosed Conditions here in the U.K., chaired by Ben Howlett, MP
In essence, the golden hallmarks for the rare disease patient best practice care are:
– expert specialist centers with expert coordinated care
– research centers along with access to innovative medicines
The UK Rare Disease Strategy sets out further details.
March 28 was a very encouraging day for the U.K. rare disease community. Following a debate led by Ben, Philip Dunne, MP, Minister of State for Health, announced that NHS England will develop an implementation plan by the end of the year, as to its commitments as outlined in the strategy.
To read the full transcript of the debate click here.
To watch the televised recording starting at 16.25 click here.
I highlighted the importance of the strategy here.
All in all, on a day-to-day level, every rare disease patient is coerced into a world where being their own advocate is not a choice, but is a necessity for survival.
Please make a donation to help fund vital medical research where 100% of your donation will be used for research and no other purposes.
Living the dream, Scleroderma style.
Note: Scleroderma News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Scleroderma News, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to scleroderma.