Rare Disease Day

I was reminded that today is Rare Disease Day 2015. So I will simply post the message from Rare Disease UK and suggest that everyone reading this blog takes some small feeling of recognition in being part of a much larger collection of affected people world-wide.

It's Rare Disease Day today! Today we are paying tribute to the millions and millions of parents, siblings, grandparents, spouses, aunts, uncles, cousins, and friends whose daily lives are impacted and who are living day-by-day, hand-in-hand with rare disease patients.
We know that many of you have a rare condition or care for someone who does. Yet you have helped RDUK to ensure that policy makers, public authorities, researchers, and health professionals understand that rare diseases are a public health priority. So would like to thank you - our dedicated members - for a all the hard work you and support you have shown. We couldn't have done it without you!

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.

CLIPPERS Without Steroids?

One key thing that characterises CLIPPERS is that it responds to steroids in the first instance. So characteristic is this that "Responds to Steroids" is the "RS" in CLIPPERS. Everyone who is treated for CLIPPERS, at some point or another, receives steroid treatment, which for many patients means high-doses of intra-venous Prednisolone.

 

A recent case study (but only a single case) hints that other treatment paths may be possible. I must stress that a single case in a condition that is hard to diagnose like CLIPPERS can't be definitive, but this is interesting none-the-less.

 

This patient had diagnoses first of Multiple Sclerosis and subsequently of neurosarcardosis (both conditions that were considered in my case also). Treatment was with hydroxychloroquine which is an anti-inflammatory used in the treatment of neurosarcoidosis. (Interestingly, the FAQ here, suggests that Prednisolone is the drug of choice for neurosarcoidosis, showing once again that there are many overlapping conditions which can be treated somewhat similarly.) The patient had good resolution of symptoms however, after their symptoms, tests and records were re-examined, the diagnosis was changed to CLIPPERS; the patient has remained well on maintenance doses of hydroxychloroquine since. Also interestingly, Dr Pittock at the Mayo Clinic, had previously tried hydroxychloroquine in one CLIPPERS patient but did not have as good results as in this case study.

 

The authors suggest hydroxychloroquine be considered as an alternative treatment for CLIPPERS because it is well-tolerated by patients, although it is not without side-effects. It will be interesting to see if this study affects treatment decisions in any future patients and whether the good results gained here can be reproduced.

 

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.

CLIPPERS 2015

A "Happy" meal I had over Christmas

A belated Happy New Year to everyone out there. January 2015 marks the 3-year "anniversary" of when my CLIPPERS symptoms retreated far enough for me to function more or less normally. At the time I was still on tapering Prednisolone and attempting to ramp up Azathioprine while dealing with a few wobbles in various blood tests along the way. I remember book-keeping the changing doses of various drugs needed a certain amount of organisation. There were worries about long-term prospects in 2012 (there still are!) but I have been lucky to be stable on Azathioprine for some time now. 

Although Azathioprine is a common CLIPPERS treatment in conjunction with steroids, I don't recall any cases being reported who have remained stable for this long after the complete removal of steroids. It would be interesting to know if anyone out there is being treated similarly. Am I simply lucky, an anomaly or living on borrowed time? I still occasionally try walking "heel-to-toe", standing on one leg with/without eyes shut etc to try and pick up any early signs of recurring problems. It will be interesting if, as part of their CLIPPERS study, the Mayo team have any comments on my case compared with others.

Finally, a reminder that for those interested in events which raise the profile of rare conditions, the annual Rare Disease Day is coming in February (28th to be precise).

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.