Rare Disease Day 2016

In just over a week it is Rare Disease Day 2016. "The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives." This can only be a good thing, although I must admit to being a bit out of my comfort zone with these mass movement things. However, they have an important role to play, especially for conditions as rare as CLIPPERS. 

Rare Diseases UK have information about the scale of the problem where I am located - but the numbers translate more or less to most other places. The most important relationship is that although there may be very few sufferers of any particular rare condition (even down to a handful), the number of identified rare conditions is so large (around 7000) that (in the UK) 7% of the population will be affected by a rare condition at some point in their lives.

CLIPPERS seems to be a rare condition amongst rare conditions at the moment. Four-fifths of rare diseases have a genetic component and there is no evidence of that (so far) in CLIPPERS. Three-quarters of rare diseases affect children and although there are a few reports of CLIPPERS in children, most reported cases seem to be in adults, with some hints that it is more prevalent when heading towards middle age. According to Rare Diseases UK, a rare condition may affect up to 30,000 people in the UK, but I doubt there are more than 20 diagnosed cases of CLIPPERS here at the moment. Please prove me wrong on this if you know different and I'll report back here.

So, like it or not, to be diagnosed with CLIPPERS is to be a member of a small and exclusive club, and unless CLIPPERS turns out to a be a "missing link" which unlocks the mysteries of other, better-known, conditions, then it is cross-community campaigns like Rare Disease Day which can do the most to push the agenda of CLIPPERS as a rare disease in the wider world.

P.S. I received a nice graphic - posted below - from Cameron Von St. James, a mesothelioma cancer caregiver and advocate. Cameron works with the Mesothelioma Cancer Alliance to spread awareness of another rare disease, Mesothelioma, caused by exposure to asbestos, as well as all rare diseases.

Image provided by www.mesothelioma.com.

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Living With CLIPPERS by Bill Crum is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

Auto-immune or not?

Recent posts have been few and far between - sorry about that. I hope to up the frequency a little now that small details like getting a new job have been resolved.

CLIPPERS has been proposed as an "autoimmune disease", a view supported by the fact that effective treatment is focussed on immune-suppressing agents such as Prednisolone, Methotrexate and Azathioprine. With this in mind, there have been a couple of recent news-items on the nature and treatment of other auto-immune disorders which are interesting.

One concerns a possible future treatment for early Multiple Sclerosis which involves destroying and then regenerating the patient's immune system. In a recent trial, this treatment reduced auto-immune attacks on myelin - the cause of MS - by up to 75%. This therapy is at a very early stage of research but the fact there has been proof of concept in human trials is very exciting. Having said that, the technique as it stands involved aggressive chemotherapy which is not trivial to administer or tolerate. Whether this research results in some general principles which can translate to other auto-immune disorders is unclear at the moment, but worth keeping an eye on for the future.

The other story has been floating around in various forms for several years, but was recently revisited in a British newspaper ("Why a diet of worms could be good for you", The Guardian, February 2016). The essence of this story is that in the past our bodies were used to the presence of parasitic worms and developed a complex relationship with them. Quoting the doctor from the article, "I can give a mouse multiple sclerosis, rheumatoid arthritis or colitis, and when I give it worms, the disease goes away. Can we do that in humans too? I don’t see why not.” Researchers think that parasitic worms adjust the immune system of the host to dampen it down which could have beneficial results when auto-immune disease is present. However the mechanisms are not understood and there have been virtually no studies in humans. Given the choice in a few years time of immune-system destroying chemo or having a few worms to stay, I know which I would choose. However, please note that I am not a doctor and definitely not advocating treating CLIPPERS using worms.

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Living With CLIPPERS by Bill Crum is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.