The Rare Autoimmune Rheumatic Disease Alliance (RAIRDA) launched a new report today, highlighting the needs of people living with non-genetic rare diseases this Rare Disease Day (28 February 2018)
RAIRDA members are: Lupus UK, Vasculitis UK, Scleroderma & Raynauds UK, British Sjögrens Syndrome Society, British Society for Rheumatology Alliance .. Please follow this link for more information and read the full report vasculitis.org.uk/news/rair...
I am very impressed by this report - not least because it is short and therefore reasonably likely to be read in full by busy professionals.
How are its recommendations to be pursued through the NHS clinicians and administrators concerned? Does RAIRDA have resources - staff, volunteers, money - to do this effectively?
Can this be discussed at the forthcoming Vasculitis UK AGM please?
We do not currently have an implementation plan but this will be discussed at the RAIRDA meeting next week.
RAIRDA does not have resources of its own but it is an alliance between British Society for Rheumatology, VUK, Lupus UK, SRUK and now Sjogrens Society. RAIRDA does have a Parlimentary Affairs Officer who lobbies on behalf of RAIRDA.
This all could be discussed at the VUK AGM but we do need to arrange a speaker.
John
Thanks. I hope you can arrange a speaker. Otherwise, perhaps we can give it a mention under AOB.
This is really great. I plan on sharing with my doctor(s). I’m in the limbo stage— signs, symptoms, and no definitive diagnosis— while juggling multiple doctors.
How could autoimmune rheumatic diseases be classified as non-genetic when it has a huge genetic influence and it runs in the family/certain race e.g. Behcet's, for example, and it runs over multiple generations? Puzzled slightly. . .
Most of the Diseases covered by the UK Rare Disease Strategy are mono genic diseases often occurring initially in childhood. Whereas the rare autoimmune diseases are aquired diseases often not affecting people until middle or later life. Although it is believed that there is a genetic component in these diseases, it seems to require an environmental factor to trigger the onset of the disease. Whereas each of the 7,000 mono genic diseases affect only a handful of people, the rare autoimmune diseases each affect hundreds or thousands of people. Bechets is unusual in having a stronger genetic element. There is on going research into genetics which underpin autoimmune diseases but it is a very complex picture involving many genes in combination.
It was really lovely of you to explain.
My rheumatic V version was from infancy. Based on what I read on HU, it's not so unusual to have infancy-onset rheumatic diseases. I have seen posts by infancy-onset "familial" SLE with several SLE in one family/ first-degree relative and beyond. As you know JA is also an early onset. "Vasculitis" was unheard of, let's say 40-60 years ago. Mother suffered a lot, based on her symptoms, it could well have been V. Once during her infancy, then in her middle-age. Maybe, there are likely rheumatic V risk genes which would be located, eventually. I also know that NHS genetics won't test you unless you already have developed the known complications of a known genetic disorder which is too obvious to miss.
There is a difference between heritable and inherited. As John says, inherited disorders involve a single gene which passes down generations, sometimes dominant, sometimes recessive and then it can skip generations. Heritable disorders involve a lot of different factors/genes. A given family may have a far higher risk of something turning up because of shared history in many different ways including genes.
Interesting. Appreciated your medical input, too.
My V is clearly an infancy-onset. To be honest, there may well be other mechanisms which "triggered" the development of V as J kindly pointed out. I often think it was an infection and immune issues in the background (in my case), nothing immunology department would "diagnose" as "deficiencies" but the immune faults that immunology wouldn't consider anything "serious" and shrug it all off. It's just that in my family, there are too many weird heritable disorders with far more overt presentations. I used to think how unlucky until I realised that I was also affected. People do not know what they got. That's just my impression. Some people may well be affected by the single gene disorder, but they never know.
Congratulations to John Mills for his MBE
Trying to connect the dots
