Rare Disease Day

In the absence of a picture of a rare disease, here is a picture of a rare fruit.
(A Dragon Fruit)

I recently found out about Rare Disease Day which is next Thursday (28th February). This was because I came across Rare Disease UK ("The National Alliance for people with rare diseases & all who support them"). Apparently, in Europe the definition of a rare disease is one that affects less than 1 in 2000 people, and in the USA it is one which affects less than 200,000 Americans at any one time. So CLIPPERS is officially rare by either of these definitions, and on current numbers I suspect at the rarer end of the spectrum.

 

The point of Rare Disease Day and of Rare Disease UK (and similar organisations in other countries) is to raise awareness and particularly make the point that, although individual diseases and conditions may be rare, collectively it is not unusual to have experience of a rare disease. Indeed the statistic they quote is that 1 in 17 people will develop a rare disease at some point in their life. Rare Disease UK's longer term mission is to "campaign for the development and implementation of an effective strategy for rare diseases in the UK" which can be no bad thing.

 

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

One That Slipped Under the Radar

Or something like that.

I held off talking about this abstract in the hope I might find some more material.

0918: Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS): No Evidence For Antibodies To Neuronal Surface Antigens

P Maddison, P Gozzard, T Jaspan. Nottingham University Hospitals NHS Trust, UK

This was a paper presented at the Association of British Neurologists Annual Meeting 2011. I was hoping in the mean-time a full-length follow-up paper might appear but no joy. I don't pretend to understand the detail of this abstract but what makes it interesting is it is one of the only bits of work I have seen which focuses specifically on possible mechanisms from analysis of tissue samples rather than patient studies. The key phrase is (I think) "we looked for evidence of antibodies to neuronal surface antigens that could be pathogenic, or act as biomarkers of CLIPPERS". Deconstructing this as best I can, the authors believe that CLIPPERS has an auto-immune component which presumably means that antibodies are involved somewhere or other. According to Wikipedia, antigens are things which "evoke the production of ... antibodies" and pathogens are things which cause disease. So in this work, experiments were performed to see if specific kinds of antibodies could be found which either were the cause of CLIPPERS and/or were characteristic of it so that their presence in tissue could be used as a test for CLIPPERS i.e. be a biomarker for CLIPPERS.

Unfortunately they didn't find anything but finish by saying: "It is possible that CLIPPERS could be mediated by other organ-specific antibodies to perivascular antigenic targets in the central nervous system, or alternatively a predominantly cell-mediated immune process.". So the jury is still out on this one.

In other news, my first clinic visit for a while is next week. Will report back as and when.

Read other articles in this series at Living With CLIPPERS.



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

I'll Have Mayo With That ...

... Light Mayo Obviously

I came across an interesting article on the website of the Mayo Clinic recently. Doctors from the Mayo were the first to characterise CLIPPERS and of course define the CLIPPERS acronym. The article - Multiple Sclerosis Mimickers - discusses conditions that can be mistakenly diagnosed as Multiple Sclerosis in the clinic. CLIPPERS is number two on the list, after Neuromyelitis Optica and before lymphoma. I'm sure I'm not the only one with first-hand experience of the diagnostic challenge that CLIPPERS presents. Really, the article is about recognising the contribution that Mayo researchers have made to our understanding of these diseases and conditions. Particularly interesting is how cases of what is now thought to be CLIPPERS were investigated by Dr Keegan very early in his career and then later in conjunction with Dr Pittock.

If anyone reading has picked up any interesting CLIPPERS-related snippets from the Mayo let me know and I'll post them here.

Read other articles in this series at Living With CLIPPERS.

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

A Cold Start to 2013

A slightly delayed Happy New Year to everyone. It's been a quiet Christmas break on all CLIPPERS fronts. Nothing seems to have changed either personally (still taking the tablets) or research-wise (nothing new that I have found).  I passed my blood-monitoring test just before Christmas which was a minor relief as the levels of various things have fluctuated a bit previously. The next scheduled medical appointment I have is at the "Demyelinating Clinic" with my consultant in February, even though CLIPPERS is not thought to be a demyelinating disease (see e.g. Pittock et al, but of course I am not a doctor) - there's not enough of us in London to have a CLIPPERS clinic!

Currently we're pretty much snowed in and, like the garden birds,  waiting for the cold air to shift back East!

Read other articles in this series at Living With CLIPPERS.

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