Weeks of preparation had gone into preparing my body for this Herculean physical exertion of a big day out! And, incidentally, it was 12 years and 1 day since I had qualified as a practising barrister on 1st March 2004!
- Empowering those affected by rare diseases
- Identifying and preventing rare diseases
- Diagnosis and early intervention
- Coordination of care
- The role of research
The immense value of patient voices for rare diseases was recognised by all of the speakers, with the recognition that each patient is an expert in their own diagnosis, and who, have often had to educate the medical professionals they encounter.
This is a huge comfort to me, given that there is currently no cure, and my life has been turned upside down, due to my diagnosis and the debilitating symptoms it brings.
As, delayed diagnosis can have a significant impact on a patient’s health, treatment options and even life expectancy’.
‘Following the onset of symptoms nearly half of all respondents waited over one year to receive a diagnosis and 1 in 4 patients had to wait over five years for a diagnosis.
Rare disease patients wait an average of four years for their diagnosis’.
However, when I first became his patient, he had just qualified as a Consultant in Dame Prof Blacks’ team, 1998!
This continuity of expert care, I believe, is of HUGE importance in the treatment of rare disease patients.
Ben expressed his commitment to the rare disease landscape and affirmed his dedication to improve the current situation, keeping the patient voice at the forefront of his work, and honouring the UK Strategy commitment. Here is a photo of myself with Ben and Dr Larissa Kerecuk, who is the Rare Disease Lead at Birmingham Children’s Hospital and is developing the Rare Disease Centre there. A blessing to her patients.
- the need for an early diagnosis
- where no cure is available, evidence based treatment options ‘to plug in the gaps’, as Drew so aptly describes.
- find out what works and stick with it so that you can try and lead a life similar to a healthy person.
Currently there is no cure for Ssc or Raynaud's, just treatments which suppress the symptoms and of course, added unpleasant side effects.
I stopped taking my 2g daily dose of immunosuppressants (mmf) of the previous five years, on the same day I appeared in court as a practising barrister (1.3.2004) – 4months later I was back on my back and forced to make lifestyle choices to address the symptoms as opposed to returning to chemotherapy.
I changed my diet in 2012 and have seen a remarkable improvement in my symptoms by including daily fresh fruit and vegetables juices.
- raising awareness is key to improving the potential for better treatments and ultimately a cure.
- And, as Drew describes, the access to a clinical expert team is paramount for survival and optimum patient safety and care.
I am eternally grateful for the medical expertise of Dame Professor Black and the super human-being Professor Denton, whose commitment to the diagnosis and to his patients is my elixir, to keep on board ‘the rare disease patient-voice fun bus’, in the hope of being a patient voice for improvements across the full rare disease spectrum.
|This article was published on the Rare Disease Day website and the Rare Disease Day social media platforms. As well as, on the Rare Disease UK website here.|
Planning for the Future, Click here
Rare Disease Day 2020:
Listen to my interview with John Smeeton, (Silver Fox), from the Royal Free Radio, here
Raise awareness and donate to medical research, order your #SclerodermaFreeWorld #RaynaudsFreeWorld tshirt here
Rare Disease Day 2020: NIHR 'Research gives hope to Rare Disease patients', Click here
Rare Disease Day 2019: 11am 97.4RockFM headlines, NO CURE, Click here
2017 Rare Disease Day Flashback
provides the brightest light,
for the illumination of
the rare disease patients’ plight.
To read about medical research at the scleroderma unit, Click here
If we only had more RESEARCH investment for Scleroderma, Raynaud's, Autoimmune Rare Disease, Click here
The Importance of Medical Research and Awareness to the Scleroderma, Raynaud's, Autoimmune Rare Disease patient, Click here
2018 Scleroderma Awareness Raising and Medical Research, Click here
Unmet Medical Needs, Click here
Calcinosis Video, Click here
The scleroderma tooth fairy, Click here
Skin Cancer and scleroderma, Click here
|Prof Chris Denton and I, Sept 2017|
|Chat Magazine May 2019|
|James Carver, myself, Prof Chris Denton|
I am immensely grateful to James Carver, former MEP, for organizing this event in memory of his late wife Carmen, who sadly passed from Scleroderma.
|The global Raynaud's trailblazer - Dr Howell and I, Sept 2017|
#SclerodermaFreeWorld #RaynaudsFreeWorld #Research
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